F A L L 2 0 0 7 V 1 7 I s s DIRECTIONS u Advancing research. Supporting families. e 5 FAMILIES OF SPINAL MUSCULAR ATROPHY SMA Treatment Acceleration Act Introduced in U.S. House and Senate
By Spencer Perlman, FSMA Legislative Affairs
or the first time ever, legis - lation has been introduced Fin the United States Con - gress to steer greater federal resources towards finding a Zeke Lerner with Hugh Laurie (Dr. Gregory House) treatment for Spinal Muscular Atrophy. The “SMA Treatment Acceleration Act” has been intro - duced in the House of Represen - tatives by Rep. Patrick Kennedy Cast & Producers Host (D-RI) and Rep. Eric Cantor (R- FSMA Fundraiser VA) as H.R. 3334 and compan - ion legislation has been Families of SMA is extremely grateful for the sup - Martha Slay, Fight SMA; Senator Debbie introduced in the Senate by Sen. port of HOUSE Executive Producer Garrett Stabenow (D-MI); Kenneth Hobby, FSMA; Debbie Stabenow (D-MI) and Lerner and the entire cast and production crew Cynthia Joyce, SMA Foundation. Sen. Johnny Isakson (R-GA) as of the show. In October, Garrett arranged for the S. 2042. Introduction of these inclusion of SMA in an episode of the dark com - bills is the result of a collaborative effort by the SMA edy, plus the cast, network and studios held a community; the legislation is supported by Families very special Hollywood fundraiser for FSMA. of SMA, the SMA Foundation, and Fight SMA. This amazing event was sponsored by tv.com The SMA Treatment Acceleration Act is designed to and raised over $70,000 for research into SMA. aid the efforts of the investigators, clinicians, and We thank all of those involved with HOUSE who families who have been striving to find a treatment or cure for SMA by providing federal support to the contributed so generously to our cause. national non-profit organizations like Families of The event was covered in newspapers from New SMA that are investing substantial private funding York to Los Angeles, and was broadcast on into SMA research, clinical trials, and drug develop - numerous TV stations and web sites including ment. Passage of this landmark legislation will enable Entertainment Tonight, Fox News, and tv.com. investigators to mount national clinical trials to Garrett Lerner, his wife Kim, their son Zeke (SMA demonstrate that identified therapeutics are safe and effective for SMA patients. II) and daughter Lilly joined with the celebrities to help educate millions about SMA and raise funds for Families of SMA! Thank you. continued on page 4 www.curesma.org DEAR friends www.curesma.org
his has been a fantastic year of fundraising events and research accomplishments. Our thanks go out to all of our chapters and Tindividual families who put so much effort into raising funds for SMA research. 2007 had many highlights for our organization and com - munity. The biggest was certainly the selection of a clinical candidate from the FSMA Quinazoline drug discovery program in June. We are Mission Statement working as fast as possible now to prepare an application to the FDA to Families of SMA is the largest interna - begin human clinical trials in 2008. tional organization dedicated solely to: Our work inside Project Cure SMA has progressed very well. We are now · Eradicating spinal muscular atrophy able to run several trials at once inside this leading multi-center clinical (SMA) by promoting and supporting network for SMA. Our main goal for the coming year is to expand the research network with new locations to allow for easier travel and recruitment · Helping families cope with SMA into trials. through informational programs and Legislative activity picked up as the SMA Acceleration Act was intro - support duced into both the House and the Senate this fall. Our joint commu - · Educating the public and professional nity-wide efforts with other advocacy groups have been successful in community about SMA creating interest and momentum with this bill. We now are entering the We are a non-profit, 501(c)3 tax exempt hard work of building support with as many members as possible for this organization. Funds will be specifically legislation. Your involvement with local representatives is so important directed to scientific, educational or literary for this effort to succeed. purposes in keeping with a charitable organ - ization. The organization is proud to pro - The SMA Drug Summit in September was a truly groundbreaking vide funding to the FSMA newsletter and moment when 13 drug companies came together to hear updates from website, which provide information and net - clinicians and the FDA and NIH on drug development in SMA. This working opportunities to its members. We demonstrated the success of our past and current efforts to attract these are a volunteer-driven organization. companies into the SMA field. Company involvement in clinical develop - ment will be critical to our future progress. Submissions There are several review articles in this edition of Directions from the To submit articles or make other contribu - 2007 family and researchers conference. However, we are already well tions to our newsletter, please contact Lenna into planning for next year. In 2008 we will be holding our annual con - Scott at: [email protected]. ference in Boston, MA. We are so excited to have the support of the Deadline for the next newsletter is: amazing New England FSMA Chapter. Additionally, we selected Boston Nov. 20th 2007. as it is home to many of the biotech and pharmaceutical companies now Digital images are encouraged! Send your showing interest in SMA. It should be a great location for us all to come digital pictures to: [email protected] together next year. Watch out for our annual holiday campaign starting soon. This year we Change of address are focusing on our efforts and funding of clinical trials. Send changes, including ZIP code to: So, it has definitely been a year of great progress, but every single day [email protected] or call 1-800/886-1762 or continues to matter in our mission to find a treatment and cure for SMA. mail to: FSMA, Membership, PO Box 196, Libertyville, IL 60048-0196 Sincerely, This newsletter is published 4 times per year. ©2007 Families of SMA. All rights reserved. No portions of this publication can be reprinted without written consent from FSMA. Kenneth Hobby FSMA does not support or endorse any par - Executive Director, FSMA ticular treatment or therapy. Information contained in this newsletter should not be used as a substitute for consultation with a qualified healthcare professional.
Design: Evan Hill Design, Inc. Printing: AIM Business Printers 2 Directions | Fall 2007 1-800-886-1762 MATCHING challenge Help FSMA Raise $300,000 for Stem Cell Research. The Dhont Family Foundation has already donated $100,000 to FSMA for stem cell research.
Now Dhont has challenged FSMA members to raise an additional $100,000 by the end of the year for this work and they will match that amount with an additional $100,000 making a total of $300,000!
To participate, donations must be earmarked by indicating “Stem Cell Research” or “Dhont Hans Keirstead, anatomy & neurobiology associate profes - sor and co-director of the Sue & Bill Gross Stem Cell Challenge” in your donation to FSMA. Research Center, is joined by representatives from the Thank you to those who have already contributed Dhont Family Foundation. The Foundation gave a $100,000 $40,000 to our target of $100,000, and a special thank grant for the purpose of stem cell research. In addition to the grant, which was facilitated by Families of Spinal Mus - you to the Dhont Family Foundation for their cular Atrophy, the Dhont Family Foundation has offered a generosity to FSMA and the SMA community. challenge: If FSMA can raise an additional $100,000 for safety research, the foundation will match the funds. Call or email the National Office if you have any questions about this challenge. Excerpted from the Congressional Record, September 12, 2007, p.S11510 Ms. Stabenow: Mr. President, today I am pleased to SMA Drug Summit introduce the SMA Treatment Acceleration Act. I also thank my colleagues, Senators ISAKSON, WARNER, FSMA Joins with Other Advocacy Groups in and WHITEHOUSE, for joining me in sponsoring Sponsoring Summit this important legislation. On September 28th and 29th a historic meeting of In April, I met with Malorie Fox, a beautiful 4-year- SMA Advocacy Groups, representatives of biotech and old from Ada, Michigan, and several other Michigan pharmaceutical industries, the U.S. Federal Govern - families about Spinal Muscular Atrophy, SMA, the ment and SMA clinicians joined together for the The number one genetic killer of children under 2 years SMA Summit on Drug Development. These stake - of age. SMA is a degenerative disease that weakens holders in the drug discovery and clinical research the body’s muscles until they can no longer function, process discussed infrastructure, regulatory, and com - that includes the ability to breathe. munity support needs for evaluating treatments for Sadly, Malorie was diagnosed with SMA shortly SMA. The goal was to assist in the acceleration of before her first birthday. Her parents were told by her development and approval of these drugs. doctors that most children diagnosed with SMA Families of SMA was proud to join other members of never reach this milestone. Thankfully, Malorie sur - the International Coordinating Committee for SMA; vived, and with her parents Michelle and James, she including: MDA, Fight SMA and the SMA Foundation continues to fight this disease. On her homepage, in sponsoring and organizing this event. Malorie wrote: ‘‘My mommy & daddy focus on the things I CAN do, not those that I cannot.”
Directions | Fall 2007 3 LEGISLATIVE update www.curesma.org
SMA Treatment Acceleration Act cont.
Specifically, the bill authorizes federal • Establish and imple - funding in order to: ment a program for • Upgrade and unify existing SMA clini - providing informa - cal trials networks, like Project Cure, tion and education and establish a national clinical trials on SMA to health network for SMA; professionals and the general public related • Establish a Data Coordinating Center to advances in the to provide expert assistance and advice diagnosis and treat - to SMA clinical trials sites; ment of SMA and • Expand and intensify federally sup - the provision of care ported research programs with respect to SMA patients. to pre-clinical translational research Families of SMA is related to SMA; encouraging all of its • Enhance and provide ongoing support member families to to the existing SMA patient registry at continue contacting SMA community members thank Senator Johnny Isak - Indiana University, which presently is their Representatives son (R-GA) for his sponsorship of the SMA Treatment funded by Families of SMA, in order and Senators to urge Acceleration Act. to provide for expanded research on them to cosponsor the the epidemiology of SMA; SMA Treatment Acceleration Act. An www.curesma.org/la_main.shtml, • Establish an SMA Coordinating Com - active grassroots campaign is crucial to contains instructions for how to iden - mittee, consisting of representatives forging a critical mass of congressional tify your Members of Congress, tips from relevant government agencies, support for the bill and moving it for contacting them, and a sample let - investigators, clinicians, and affected through the legislative process towards ter and talking points. families and individuals, to coordinate passage and enactment into law. Legis - We strongly urge you to take the time to government activities relating to SMA, lation rarely moves through Congress participate in this important grassroots serve as the principal advisor to agency without broad demonstrated support effort and to ask your family and heads, and conduct a study to identify from several Members of Congress, and friends to join you. Please do not hesi - barriers to the development of drugs Members of Congress are significantly tate to contact me at [email protected] for treating SMA and report its find - more willing to cosponsor legislation if if you have any questions about the bill ings and legislative recommendations their constituents are actively lobbying or contacting your Members. Addition - to Congress; on the bill’s behalf. ally, please send me a copy of your cor - • Establish a cooperative research initia - You are already making a difference: as respondence so that we can track which tive at the National Institutes of Health a direct result of your calls, emails, and Members have been contacted by fami - to ensure collaboration across multiple faxes to your Members of Congress in lies. With your assistance, we can build Institutes regarding research related to response to the Families of SMA“Call further support for the SMA Treatment SMA; to Action” alert in September, there are Acceleration Act and begin moving the • Require the Secretary of Health and now nearly 20 cosponsors of H.R. bills through the legislative process. Human Services to collaborate with 3334! However, we hope to increase the Food and Drug Administration to that number significantly and to spur make recommendations for improv - similar results in the Senate for S. Join the legislative ing and expanding existing industry 2042. This can only happen with your action commitee, email: incentives to promote SMA drug help – your Members need to hear development; and from you. The Families of SMA legisla - [email protected] tive action website,
4 Directions | Fall 2007 1-800-886-1762 LEGISLATIVE update Date Sample Letter
The Honorable ______Member of Congress/United States Senate ______House/Senate Office Building Washington, DC 20515 (House) /20510 (Senate)
Dear Senator/Congress(wo)man ______: As your constituent, I am writing to you today to ask you for your support of H.R. 3334 (or S.2042 for Senators) “The SMA Treatment Acceleration Act”, which has been introduced by Congressman Patrick Kennedy (D-1st-RI) and Congressman Eric Cantor (R-7th-VA) in the U.S. House of Representatives and Senator Debbie Stabenow (D-MI) and Senator Johnny Isakson (R-GA) in the Senate. This Act will go a long way in our efforts to find a cure for Spinal Muscular Atrophy (SMA), the leading genetic killer of children under the age of two. [If you wish, this is the ideal place to insert a few lines about your personal experience with SMA.] As you may know, SMA is a hereditary disorder that destroys the nerves controlling voluntary muscle movement. It is the number one genetic killer of children under the age of two. SMA is a relatively common “rare disorder.” It is estimated that SMA occurs in about 1 in every 6,000 births. Approximately 1 in 40 individuals (7.5 million Americans) carry the gene that causes SMA, making it the second most common autosomal recessive genetic disorder. This incidence rate shows neither racial nor gender bias. Presently, there is no known treatment for SMA, though there have been several exciting research breakthroughs over the past decade. Among more than 600 neurological disorders, SMA has been singled out by the National Institutes of Health as the disease closest to treatment based on scientists’ advanced genetic understanding of the disease. In order to support the investigators, clinicians, and families who are working to find a treatment or cure for SMA, the SMA community, including Families of SMA, the SMA Foundation, and Fight SMA, has united behind the “The SMA Treatment Acceleration Act.” Specifically, “The SMA Treatment Acceleration Act” would provide for the following: Federal support for a national clinical trials network for SMA; Federal support to enhance the existing SMA patient registry and for expanded research on the epidemiology of SMA; Establishes an SMA Coordinating Committee to include federal agencies, SMA researchers, and SMA families; Establishes a trans-Institute research collaboration at NIH under the Director of NIH to ensure all relevant Institutes at NIH are contributing and collaborating on SMA research; Requires the Secretary of the U.S. Department of Health and Human Services (HHS) to study and report to Congress on ways to improve existing incentives, as well as to recommend additional incentives, necessary to promote SMA drug development among private industry; Lastly, the bill provides for the Secretary of HHS to establish a program to provide information and education on SMA to health professionals and the general public We are excited about this legislation and to that end; we encourage you to sign on as a Cosponsor to the “The SMA Treatment Acceleration Act.” If you are interested in Cosponsoring or if you have any questions feel free to contact Rachael Bornstein in Congressmen Kennedy’s office at (202) 225-4911 or Lindsay Shore in Congressman Cantor’s office at (202) 225-2815/ Oliver Kim in Senator Stabenow’s office at (202) 224-4822 or Tyler Thompson in Senator Isakson’s office at (202) 224-3643. With your help, there is real hope for finding a cure for SMA. Thank you for your help!
Sincerely,
Name Home Address City, State, Zip Email address (for response)
Directions | Fall 2007 5 FSMA announcements www.curesma.org Standard of Care Document Published The International Standard of Care Committee for Spinal Mus - New Clinical Trials cular Atrophy was formed in 2005, with a goal of establishing practice guidelines for clinical care of patients with SMA. The 12 1. Controlled Trial of Valproic Acid in Ambulant core committee members worked with more than 60 spinal Adults with Spinal Muscular Atrophy (VALIANT muscular atrophy experts in the field. SMA STUDY) . Location: Ohio State University. The primary objective of this Phase II trial is to This document has been published in the August 2007 supple - assess the efficacy of oral valproic acid (VPA) in ment of the Journal of Child Neurology. adults with SMA. While it is designed for medical professionals, this document, 2. STOP SMA, Phase I/II Study to Evaluate Effects of representing up-to-date insights of an international body of Sodium Phenylbutyrate in Pre-symptomatic clinical experts, lays out a comprehensive discussion of the many Infants with Spinal Muscular Atrophy at the Uni - care considerations in SMA, and highlights the critical impor - versity of Utah. The purpose of this study is to eval - tance of multidisciplinary approaches for patients’ and families’ uate early treatment intervention in moderating benefit. SMA symptoms in pre-symptomatic infants. The article is available as a free download on the Journal of If you are interested in being involved in a clinical Child Neurology website. study or trial, please contact the Indiana Patient We offer our thanks to all those who contributed to this project, Registry. which was lead by Dr. Ching Wang of the International Coordi - http://www.iupui.edu/~medgen/hereditary/sma.html nating Committee for SMA Clinical Trials (ICC). Special thanks to the Patient Advisory Group of the ICC for supporting this ini - tiative and to the Journal of Child Neurology for making the article available to the public. You can access this article in the “Research” section of the Families of SMA web site.
Genetics Pamphlet—Now Available Families of SMA is excited to introduce the first in a series of educational pamphlets about Spinal Muscular Atrophy, The Genetics of SMA. This pamphlet was reviewed and edited by the Families of SMA Medical Advisory Board. It is available for download online or a hard copy can be ordered at no charge from the office. Families of SMA would like to thank the Angel Baby Foundation. This brochure was produced thanks to their generous donation.
SMA Awareness Month Proclaimed in Michigan, Oklahoma, South Carolina and Cincinnati Left: South Carolina Proclamation with a picture of Jackson Hedgepeth. Center: At the Crosstown Roll-out the Cincinnati Mayor’s Proclamation was announced. Top Right: Ian Zurowski with the Michigan Proclamation. Bottom Right: Brody Henry with the Oklahoma Proclamation.
6 Directions | Fall 2007 1-800-886-1762 FSMA announcements A Canine Companion for Shea Shea, an 11-year-old from Centreville, VA, uses a wheelchair due to spinal muscular atrophy. But her friends and passersby notice her for a different reason: her constant com - panion, a silky black retriever named Mercer. “I’m not known as the kid in a wheelchair,” Shea says. “I’m the kid with the really cool dog. That changes a lot for me.” Her disease has left her with limited arm strength and compromised motor skills. So Shea’s mother Megan started looking for an assistance dog for her daughter. Megan says she learned about Canine Companions for Independence (CCI) on the Internet and was attracted to the organization because it was the only one she could In the spring of 2004, Shea Megale find that did not charge up to $25,000 for a dog. (SMA II) received her “Canine Com - In fact, CCI provides the dog totally free of charge, including training and ongoing fol - panions for Independence.” Shea's low-up services to each team for the working life of the dog. dog, Mercer, helps her with her day-to- Founded in Santa Rosa, Calif., in 1975, CCI uses golden retrievers, Labrador retrievers day activities—like turning on the lights, or a cross of the two breeds from specially selected breeder dogs. Volunteer breeder picking items off the floor, getting her caretakers care for CCI breeder dogs and nurture newborn puppies for eight weeks food card at lunch and giving her more until they are brought to one of CCI’s five regional training centers. independence! From ages eight weeks to 18 months, volunteer puppy raisers care for, provide basic Mercer also inspired Shea to become obedience training and socialize the puppies. Professional CCI instructors then teach an author who has been featured on the dog to master over 40 commands for six to nine months. The canine is then ready to attend Team Training and be matched with an adult or child. Team Training culmi - the Today show, USA Today, and more. nates in a joyful graduation ceremony for graduates beginning a new journey and for “MARVELOUS MERCER!” is the first puppy raisers witnessing their puppies’ achievements. book available in the series and there There are 1250 active CCI graduate teams in the USA, consisting of a dog and human are three others in the works. In Mer - partner. Most CCI dogs assist people with various disabilities, working with people in cer's first adventure, he does all his wheelchairs and the hard of hearing. Other CCI dogs work with rehabilitation profes - daily chores for Shea, carries her back - sionals, helping to improve the physical or emotional health of their patients, or in pack, picks things up for her, tucks her special education settings. in at night, and then lastly, turns her In addition to helping Shea with physical tasks, Mercer also offers companionship. “He light off and settles into his kennel. makes her life better,” Megan says. “This has absolutely changed her world.” She Mercer has a secret, he and his friends explains that when Mercer accompanies Shea to her doctor's appointments, he lowers spend their nights thinking about all her anxiety level considerably. kinds of crazy ways to help their own - “When she has to go to (Johns) Hopkins, he lifts the burden just by being with her.” ers experience many of the things Shea beams when she talks about Mercer. At the mall, he carries her purse and will put you can, but author 12-year-old Shea his paws on the counter to hand a clerk a credit card. During the school year, he rides Megale cannot. the bus with Shea. When they go into their classroom, he lies down under Shea's desk. Congratulations to Shea she is truly an “When I drop a pencil or something, I say, “Get it.” And he retrieves it. If I need some - inspiration! thing, he’s right there. And he knows it instinctively. He gets up and waits for the com - To purchase the book or learn mand.” more about Shea visit her website Shea says she might like to move to Manhattan when she is older because it is an www.walkforshea.com “accessible city” and relatively easy to navigate. She says she might want to become a dentist or a lawyer or have a military job. Most importantly though, proceeds But for now, Shea plans to enjoy elementary school with Mercer by her side. from the book are going to two cool causes, Spinal Muscular Atrophy “We’re two peas in a pod,” she says. research, and Canine Companions for For more information on applying and volunteer opportunities, please visit Independence. www.cci.org or contact your local CCI regional office by calling 1-800-572-BARK (1- 800-572-2275).
Directions | Fall 2007 7 FSMA announcements www.curesma.org
Mentoring Programs for Adults & Teens Families of SMA, since its inception, has been commit - Holiday ted to supporting individuals and families connected to Spinal Muscular Atrophy in a variety of ways, and has Fundraising recently decided to expand its support services by utiliz - ing the assistance of several adults successfully living Families of SMA is proof that grassroots efforts with SMA, despite the limitations and obstacles that can add up to major contributions and the holi - typically come along with the disease. days are a great time to implement a smaller The panel of adults, known as the Adults with SMA giving campaign in your hometown or among Committee, will, as its first task, dedicate their energies friends and family. to the teenagers and adults who need guidance with “life 1. Letter Writing Campaign. (see page 22). Sev - issues” that tend to emerge in adulthood, providing eral years ago, families around the country individuals a place to turn throughout such transitional wrote letters to families and friends which periods via an official Mentoring Program. Individuals they included in their holiday cards. Those approaching these developmental stages often fade into letters (provided by FSMA with return the background, however FSMA recognizes that it is envelopes), helped FSMA raise over $250,000. crucially important for them to have someone to iden - 2. Angel trees – The FSMA office has paper tify with, talk and vent to, relate experiences with, and angels designed with the letters SMA. Ask a share a common ground. local store to hang the angels from a tree (or Furthermore, the Mentoring Program will allow oppor - on the wall) and customers can take a tag and tunities for others to network with peers in regards to turn it in at the checkout counter with a accessibility issues, employment issues, personal assis - donation. tance issues and/or concerns, relationship issues, etc. 3. Donation cans – The FSMA office will send you a donation can that you display at local The Adults with SMA Committee consists of: businesses. You can personalize the cans with Rocco Arizzi pictures or brochures to encourage participa - Troy Justesen tion. Amy Marquez 4. Campaigns for specific items – Schools and Melissa Milinovich other community organizations like to “give- Collin Pollock back” during the holidays. Tying a campaign to a specific item like a conference scholarship Rachel Stewart or an adaptive toy helps to both set a John (JJ) Wett fundraising goal and give donors a sense of Angela Wrigglesworth accomplishment. 5. Gift Card Purchases – Do you purchase gift Individuals representing various age groups, genders, cards for the holidays? Could you use a gift career specialties, SMA types, and lifestyle choices. They card to purchase an item for a family member are a wonderful group of people who are approachable or friend? When you purchase gift cards at any time of the day and more than eager to lend their through FSMA in our “scrip” program, we assistance. For more information about the Program, to receive a percentage of your purchase price as reach members of the Committee, or to request being a donation to the organization. The dollars paired with a mentor, please send all correspondences really add up. to: To share other great fundraising ideas go to the By U.S. Mail: Families of SMA - “Fundraising” discussion on the FSMA forums Attn: Mentoring Program and add your ideas. These do not have to be P.O. Box 196 large events, the smaller contributions we Libertyville, Illinois 60048 receive collectively become a significant portion of our fundraising success. By E-Mail: [email protected] By Phone: (847) 224-9233
8 Directions | Fall 2007 1-800-886-1762 FSMA announcements SMA Family Camping Trip in Beautiful BC The 7th annual SMA family camping trip is over for another year, with a change of location this year. It was held on the Vander Wyk dairy farm. The kids had a ball, they rode horses, collected eggs, made bonfires, swam, made rockets, made ice-cream, played board games and cards and scavenger hunts. They also made their own marshmallow shooter guns and had their own war! We also had our regular marshmallow war, something nobody ever wants to miss out on. Next year the trip will be planned for the second half of July. Both Canadian and U.S. families are welcome. Please contact Susi VanderWyk if you are interested in joining us. Email [email protected].
Pen Pals am 16 years old Did you ever want to connect with another parent who is going I ing is l (when everyth through a similar situation? Does your child wish to get to know I enjoy schoo e, y english, scienc going ok) I enjo . other kids with SMA? If your answer is yes, FSMA may have the metimes maths ltimedia and so solution—FSMA Pen Pals. mu d I atch movies an I like to read, w We will highlight various members looking for pen pals in each hy. njoy photograp issue and then you can mail/email us and ask to be their pen pal. e helping nly thing that is We will help connect you together. I think the o ng each day is havi me get through For more information email [email protected]. d. my belief in Go e speaking to really appreciat I would ugh what ho is going thro someone w will ars old d hope that it an is 14 ye I am. I think an Meg MA. ngs a bit better. s Type II S Hi, my name is Dan Brace. I'm p me accept thi and she ha hel England. interested in becoming an fsma you She lives in thank playing on pen pal. My younger brother, Sam e She enjoys Jacquelin do DS and Jantzen, is 13 and has type 2. I also her Ninten ross bikes, had an older brother that died likes motoc My n nd every- ame is And animals a from type 1 at a few months old. I am rea art, Lavallee, my g pink. unaffected. To tell you a little about son thin Maxime myself, I’m 22, and have lived in Cocoa has SMA typ II e and I would r Hello Beach, FL for the past year after eally , I’m Katharina love and I have SM moving from Michigan. If their is to be in tou II to III. I’m f A ch with ifteen years old ano in Ge and I live anyone that would be a good match ther family rmany . Five ye or parent ars ago I began that to learn Englis please give them my name and e-mail is experien h in school and cing what want to now I I am practice with w address. . Maxime w o riting e-mails as just r letters. I’m se diag arching for a gi nosed a mo boy betw rl or a nth ago een thirteen an toda te d seven- y and it wo en. I love playin uld be g chess, swimm grea listen to th ing, t to have so e radio and pla meone to com ying on the talk puter. Is anybo to. dy interested to write to me?
Directions | Fall 2007 9 2007 conference summary www.curesma.org Schaumburg, Illinois 2007 FSMA Family & Professional Conference
forwMOVINGard 2007 FSMA CONFERENCE
For those of you who were able to join Then an anonymous donor contributed us for this years' conference, it was $250,000 toward stem cell research in great seeing you. For everyone else, honor of Audrey Lewis' years of hard we wanted to take this opportunity to work and service to FSMA. share some highlights of this years' This was followed by an announcement event. One of the most exciting of a grant and a challenge. The Dhont announcements is that at this years' Family Foundation has given FSMA conference over $1 Million was raised $100,000 to be directed to speed up stem cell research at the University of to fund SMA Research. California, Irvine. The Foundation has Plans are now underway for next years' promised FSMA an additional $100,000 conference in BOSTON, MASSACHU - if our community can raise $100,000 Some Amazing Kids SETTS! So watch out for details. for stem cell research. Already, the Jacob The fundraising and awareness work Isaac Rappoport Foundation has wasn’t limited to the adults at this years' pledged an additional $10,000 to this Amazing Fundraising conference. A group of enterprising kids challenge. decided to make their time in childcare How did we reach $1 Million in just a If you are interested in contributing to productive and began creating and sell - few short days? It started with a match - this challenge, please mark your dona - ing bracelets and paper ties to raise ing donation by the Wyatt Kyle Sutker tion with either “Dhont Challenge” or funds for SMA. Their efforts continued Foundation, challenging attendees to “For Stem Cell Research.” all weekend, some kids even giving up the conference banquet to raise $12,500 their play time at the carnival to man a in the silent and live auction. The Sutk - Finally, the weekend was capped off with a $500,000 pledge by real estate booth to continue selling. They raised ers were so moved by the generosity of almost $200 ! the community, and the dedication of developer Jon Morrow and his family to the researchers, that they increased their fund drug discovery. Jon, an adult with Another group of kids published the donation to $20,000 . SMA, encouraged the community to first edition of their very own newspa - continue their efforts and push SMA per. They interviewed researchers and The Jacob Isaac Rappoport Foundation research ahead. other attendees. announced a $100,000 gift with half being dedicated to a new Type I clinical This is proof once again of the com - trial planned by Project Cure SMA and bined strength of Families of SMA. half to drug discovery. Both large and small donations come together for an ultimate result that is truly amazing!
10 Directions | Fall 2007 1-800-886-1762 2007 conference summary
We’re NEWS ANNOUNCED : asking about FSMA the CLINICAL CANDIDATE SELECTED Family Confe H rence! Families of Spinal Muscular elp us to evalua te and improve FSMA confer the Atrophy Selects First Novel ence by taking a vey. Just vis quick sur- Clinical Candidate for SMA it the FSMA we on the s b site and click urvey link. This At the conference, FSMA announced our p will help us in lanning of futu the selection of a clinical candidate re conferences. from the drug discovery program FSMA is con - ducting at deCODE Chemistry. FSMA will now be funding the studies necessary to apply to the FDA to begin clinical trials.
Thank You to the volunteers from Mario Tricocci who helped the kids at our conference feel like celebrities.
Directions | Fall 2007 11 2007 conference summary www.curesma.org
Special thanks to Audrey, Joe Lewis and the Lewis family for their sponsorship of the pony rides. They were a favorite activity.
Thank you to Wynne Lacey, Jackie Graney and The Chicago Rush Arena Football Adrenaline Rush Dancers for leading a cheerleading clinic at the conference.
way e now under Plans ar e in rs’ conferenc for next yea S! SSACHUSETT BOSTON, MA e for details See back pag
12 Directions | Fall 2007 R ESEARCH D IRECTOR C ONFERENCE S UMMARY FALL 2007
F AMILIES OF S PINAL M USCULAR ATROPHY
CA PublicOation DedicaMted To ResearchPUpdateAs SS This issue was produced based on transcripts from the 2007 FSMA Family and Professional Conference in Chicago. Dear Families and Friends
opefully, everyone now Project Cure SMA at 7 sites; 5 in how SMA is working in motor should have read about the the US, 1 in Argentina, and 1 in neurons and in cells. Understand - Hexciting announcement Montreal. The Project Cure SMA ing this is critical to designing that we have a clinical candidate for Network has been working on a effective drug discovery strategies. our SMN enhancing drug discov - Phase II trial for the last several The drug discovery strategies then ery program. With a lot of work years to look at the combined regi - lead to compounds to be tested in and effort, and making many men of Valproic Acid and Carnitine humans in clinical trials. So, all of related molecules to our original in children with Type II and Type these activities must go on simulta - hit that came out of the Aurora III SMA. We heard at a Project neously to be effective and efficient. screen, we have been able to opti - Cure SMA meeting this week that In addition, we also fund alterna - mize a drug candidate so that it is 91% of study visits have been com - tive therapies like stem cells and available in the brain, it stays in the pleted and the trial will end in some gene therapy work. human body for a long enough November of 2007. We are expect - I now want to talk a little bit on time, and it has efficacious activity. ing data from the trial by the time why basic research remains so We are now beginning to embark of this conference next year. Also, important to SMA. Even though on the studies that are needed to go the Ohio State site, under the direc - we have now gotten to the point into an IND application to the FDA tion of Dr. John Kissel, started an that we are testing drugs in the which will allow us to do first in adult SMA ambulatory trial. We clinic, there is still a lot we do not human testing. have also been funding the Indiana understand about the basic mecha - So, now that we have heard the SMA Registry to help patient nisms of SMA and how the protein punch line to this entire talk, I’ll recruitment into clinical trials. This SMN works. Understanding these just start at the beginning and give is a registry that all of you can join mechanisms is going to be critical you a more comprehensive and then be contacted to enter clin - to designing new drugs and mak - overview of the Families of SMA ical trials. This registry, which we ing them better and more effective. research programs for the last year. started 20 years ago, is open for use So what we do know is that SMN by all researchers around the world. In the last year, Families of SMA protein is required for motor neu - funded $4,000,000 in research. We Now I would like to go into a bit ron function. We know that motor funded 28 different basic research more detail about the three areas of neurons are very specialized cell grants to academic laboratories and research that Families of SMA types. They have cell bodies which universities. We funded two differ - funds. For the last couple of years, are in the spinal cord and they ent drug discovery programs: The we have been funding basic expand very long axons out to the one that I mentioned above, which research, drug discovery, and clini - muscles in your body. This can be a are Quinazoline compounds to cal testing about at equal levels. very long distance from your spinal enhance SMN expression, and the Therefore, our research funding is cord to your foot say. SMN is found other at Paratek Pharmaceuticals, basically divided into thirds, with a in two places in this cell. First, in which is a much earlier stage pro - third of our money going to each the main cell body, and second way gram to look at Tetracyclines to of those areas. The reason we allo - down in the axon. We still do not correct SMN2 splicing defects. We cate our funds like this is that we know whether or not the critical have also been funding the Project feel these three areas are very inter - function of SMN in SMA is up in Cure SMA Clinical Trials Network. connected and essential to develop - this cell body or in the distinct There are about 30 people now in ing SMA therapies. The basic function down in the axon, or it research allows us to understand may be both. But basic research is continued on next page R ESEARCH D IRECTOR C ONFERENCE S UMMARY
continued the path to answering this question. ment, so luckily these statistics do not ing thousands of versions of that com - Knowing the function of SMN is critical directly apply to our situation. pound, is essential because a drug needs to help us really focus in and develop When we started our first drug discov - to do many things at once. It does not drugs in a better way. There are also a ery program at Aurora BioSciences, only have to increase SMN levels, but it number of other questions that basic which was seven years ago now, we needs to be present in the blood stream, research can answer, such as how far began at the start of this whole process and in our case, cross the blood-brain into SMA disease progression can SMN where we knew that there was a target: barrier. This is something that has to be levels be increased and still have a thera - the SMN2 gene whose expression could engineered into our compound. In peutic benefit? We do not know very potentially be increased to have thera - addition, the compound has to be safe much about how SMN expression or peutic benefit. At Aurora, they devel - and selective. It can’t be toxic. Many levels are controlled and regulated? oped an assay to see whether SMN2 compounds will have a few of these Knowing these things, and having a expression could be increased. They characteristics but not all, and that greater understanding about the way used this assay to test thousands of means they are not going to be a human that SMN functions, will also allow us compounds to look for some that could drug. This is what makes drug discov - to intervene at different points in this increase SMN protein levels. At the ery a long, complex, expensive and pathway. If SMN requires other proteins point where you find compounds that high-risk process. A, B, and C to do its job, you may be do this, they are called hits. A hit is then Just to give you a quick update on the able to do drug discovery projects shown in cellular models of SMA to status of the Paratek program: Paratek is directly on proteins A, B, and C – and increase SMN levels. When you have a focusing on a tetracycline compound not just focus on SMN. This could really compound that does something desir - that can directly correct SMN2 splicing. help us move forward. able in a Petri dish it does not mean it It causes exon 7 to be included in the There are also other questions that we can act as a human drug however. A SMN protein, so making it fully func - can ask in our basic research such as can huge amount of effort has to go into tional. As I said, this project is in very we replace SMN protein with gene ther - turning that hit into a real drug. That early stages of lead optimization. We are apy? Can we directly replace motor neu - process is called lead optimization. just starting to understand what parts of rons with stem cell therapy? All of these In order to turn a hit into a drug, many the compound are required for activity. questions are really important and they relatives of this original hit compound Over the next year, we are going to make are mostly looked at in the academic are made - usually several thousand - hundreds of analogs of our hit and look labs in the universities. They are funded until you have one that looks good for one that can cross the blood-brain through our basic research program. enough to be considered a clinical can - barrier. Now I want to return to the subject of didate. When your clinical candidate is Note: More details on our clinical pro - drug discovery and drug development selected you then run through a pre- grams will be included in the next edi - and give you an update on where the clinical package of safety studies, which tion of Compass which should be two drug discovery programs that we takes about 9 to 12 months to complete. available in a few months. Some quick fund are in this process. Before I do that, When we do pre-clinical safety studies notes from Dr. Sandra Reyna on the I am going to give you an overview of we are looking to see if this compound current clinical trials we are funding are how drug development works so you is safe enough to be tested in human opposite. Also, to learn more about the have some kind of context to put all this beings. Once you have that data, you status of the Quinazoline project, I information into. can file an application to the FDA, and encourage you to read the remarks Drug development is divided into two they will review it and let you know if given by Dr. Mark Gurney from main steps. One is preclinical drug dis - you can begin testing in humans in deCODE Genetics. covery and the other is clinical develop - phase I clinical trials. Sincerely, ment. They are very distinct steps. For the Families of SMA Quinazoline Jill Jarecki, Ph.D. Preclinical is the stage before you test in collaboration with deCODE chemistry, Research Director, Families of SMA. humans, and then clinical development we have just selected a clinical candidate is when you begin testing drugs in for the program and are now beginning In the spring 2007 issue of Compass humans. Getting to this milestone of pre-clinical safety tests. In our second was a transcript of a clinical trials chat testing in humans is a huge step in the drug discovery program, with Paratek with Dr. John Kissel. During the chat process. You probably have all heard sta - Pharmaceuticals, we are currently work - Dr. Kissel referred to a study of tistics about this process taking about 10 ing on compounds to correct SMN2 hydroxyurea. The study which he to 15 years and costing about 1 billion splicing. This is a much earlier stage referred to was conducted in Taiwan dollars. As SMA is an orphan disease the project where we have a hit that we are and was not the study currently FDA has different guidelines to help beginning to optimize into a drug. underway at Stanford University. The expedite orphan disease drug develop - This process of lead optimization, mak - Stanford Study is still blinded and the results entirely unknown. COMPASS FALL 2007 Quinazoline Project Update Given by Dr. Mark Gurney at the 2007 FSMA Conference am pleased to report that the compound that we have created of the compound in healthy adults, and we ask: when we give a sin - for you is showing benefit in a genetic model of the disease, the gle dose of the drug, is it absorbed, does it appear into the blood, ISMA mouse model. Also, the data that is emerging is showing and then is there any indication that it is acting via the mechanism that the compound is quite tolerable in baby mice and also in adult of action that we designed? If we find that in the single dose that the rats. These are the two main things that are needed to now advance compound is behaving properly, then we would do a second study towards the clinic: the first is that our compound works and then in healthy adult subjects which is called multiple dose tolerability. second, that the compound looks as if it has the potential to be safe. From that study, we obtain information as to whether the drug The next step is to show, in fact, that it is safe enough to advance accumulates in the body on repeat dosing, and again check that is it into human clinical trials. That is a fairly straightforward process. exerting the mechanism that we desired. The FDA works with drug companies and has clearly articulated At that point in time we would have preliminary data on tolerability what are the safety studies that need to be done. that allows us to move into actual patient clinical trials. From our Those safety studies basically fall into three types. First, we have to experience, this has usually taken about eight months with the first show that the compound does not have an effect on the functioning dose in a human, to a completion of Phase I. of any organ systems: so that it does not adversely affect the brain, So I think from where we are standing now, if everything goes the lungs, or the heart. Second, we need to show that on repeat dos - smoothly, and this is not an easy industry to be working in, but if ing, the compound has no toxicity, or at least if we dose up, we can everything goes smoothly, we could see maybe 9 months to an IND show that the window between toxicity and the efficacious dose is and then another 8 months in Phase I that you would need to begin wide enough to enable the compound to go in to the clinic. Third, your initial studies in SMA patients. for a pediatric disease such as SMA, we need to show that the com - pound does not affect either prenatal development, or postnatal I think we have come a long way. FSMA has been one of the very development. first disease foundations to try and undertake drug discovery. You have shown that you can conduct a high throughput screening So, this is a big hurdle. It was a big hurdle to get this far to show that campaign, that you can identify hits, that you can work with a we could make a compound that was drug like; that had efficacy in chemistry company to turn those hits into leads, and now show that the animal model; and that had pharmacokinetics that would sup - those lead compounds have benefited animal models of SMA. So port treatment for a disease that affects primarily the brain. that has been quite a long road, a very difficult one, and now we will The time required at deCODE to conduct pre-IND studies is gener - see as we progress, do we have a compound that is safe enough to ally on the order of 9 months. This data generated from these stud - take into human clinical trials, and we should know that on the ies allows us to file the Investigational New Drug application, the order of months rather than years! IND. At that point in time, we begin conducting preliminary studies Current Clinical Trials in Project Cure SMA By Dr. Sandra Reyna CARNI-VAL. Project Cure SMA’s first randomized, placebo-con - Pharmaceuticals, who donated the carnitine in the form of study trolled trial tested valproic acid (VPA) and carnitine in children drug elixir and placebo. with SMA type II. When the remaining dozen study visits are com - VALIANT. The preliminary data of the Utah pilot trial on VPA also pleted by Thanksgiving CARNI-VAL will meet its ambitious goal of led to the decision to embark on an adult trial of VPAs. Thus taking a full 90 participants through the entire trial. So what’s the VALIANT was conceived. In late November, 2006, FDA approval upshot? First, achieving that participation goal is scientifically cru - was sought for this trial of adults with Type III SMA. To focus the cial. It allows us determine the safety and efficacy of VPA in treating research and give VPA its optimum chance at showing efficacy in the symptoms of SMA. Second, having produced a rigorous study adults, only those adults who are still able to walk unaided were by requiring random assignments of drug and placebo arms in the included between the ages of 18-60 years. larger cohort of type II children, we meet the FDA requirements for a well defined study of efficacy. In other words, if analysis of the The Project Cure SMA adult trial is conducted under the direction data shows that VPA does improve the motor function of SMA of John Kissel, M.D., of The Ohio State University. Families of SMA children, we could move closer to possible FDA approval of this has provided full funding, while Abbott has donated study drug promising treatment. and placebo. Following the design of CARNI-VAL, our adult trial is randomized and placebo-controlled. However, unlike CARNI-VAL, In mid-November 2007, Project Cure SMA researchers begin the half of all 36 project participants will begin with placebo, half with final step in the process -- data collection and entry will be com - study drug, and then switch after 6 months. Dr. Kissel received FDA pleted and sophisticated biostatisticial analysis will take place. approval for the trial at the end of 2006 and all institutional regula - Results will be ready by mid-2008. Currently our investigators tory requirements have been met, allowing enrollment to begin in remain blinded to the drug and placebo assignments, as required. mid-summer 2007. To date, 4 participants have been screened and Project Cure SMA owes much to Families of SMA, who funded this included. Each participant to complete the study will engage in trial in its entirety and to Abbott Laboratories, who donated the study visits over a 13-month period. VPA in the form of study drug and placebo, and to Sigma-Tau FUNDRAISING stars www.curesma.org Dear Families of SMA: Please accept these donations of behalf of my niece Tayler Dyrda. I raised the funds by com - pleting the Goofy Challenge at Walt Disney World in January of this year. I ran half a marathon on Saturday and a full marathon on Sunday. That is 39.3 miles in two days. A challenge yes, but nothing like the challenges Tayler faces every day. Tayler is my running inspiration. She is a spirited 11 year old, who enjoys school and dressing-up. She is a bless - ing in our lives, as are you. I appreciate all you do to find a cure for SMA. Thank you and God Bless. “Team Skylar’s Sincerely, Fight” had a fun- April Novak, from Muscle Shoals, AL filled summer, swimming and Dear Friends of FSMA, swinging to On Sunday fundraise over July 15, 2007, $55,000 and still the Kropsch and Magnago counting. In late Family, in June, 20 team members, ranging in ages from 15 to 50, braved honor of their 58 degree water and swam from Alcatraz Island to the shore daughter Cata - as part of the 3rd biannual Skylar’s Swim . We are pleased rina – SMA Type I, hosted that everyone completed successfully and we are already her 1st birthday recruiting and training for 2008. In August, 28 aspiring Ryder party and Cup golfers then participated in The Wannabe Cup decided to help the fight against SMA by asking (www.wannabecupgolf.com) in Solvang, CA. During the clos - for donations instead of presents. Catarina’s 1st Birthday Lunch was a success! She turned 1 year ing ceremonies, Steve Astephen graciously volunteered to old surrounded by family and friends with a lot donate the profits from a week’s worth of sales from the golf of good vibes. As she shares with her Daddy a apparel company, Pahr72.com. Whew....what a great great affection for all that is under the sea, summer. We can’t wait including the love for the family aquarium and especially for the clown fish, there was no other to do it again! perfect decoration but “Finding Nemo”! From, Lots of colored balloons, Finding Nemo figures Jim and Liz Bahren - and a very special under the sea cake made the party a big hit!! Mommy did a panel with lots of burg of Sonoma, CA Caterina’s pics and SMA posters for awareness- In honor of Skylar raising. We were amazed by the extraordinary Bahrenburg people who stepped up to be a part of the cure, helping dreams come true! Family and friends enjoyed a lovely lunch and afternoon. Catarina’s 1st Birthday was a great triumph raising over $2,600 for FSMA! Kind Regards, Izabel Kropsch Magnago From Rio de Janeiro, Brazil
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Stevens Walk 2007 was held in May at Newton Lake Park NJ, by Mike, Terri, Steven and Matthew Potter. There were over 200 walkers at the event. There was great live entertainment (Steven’s grandfather's band), prizes, wonderful weather, a great playground for everyone to enjoy, and special guests including Hammer from the Riversharks and Vince Papale. The event raised an incredible $25,741 for SMA research. They are already looking forward to Steven’s Walk 2008!
Mary McHale, Nancy Dindzans, along graphed sports items, which went on a received $5,000 from their local Milton with family, friends and committee silent and live auction. This SMA event Union Eagles #3621 Aerie and Auxiliary. members, held the 7th Annual Concert would not take place without the help They already have the next event sched - for a Cure . This year was a record of many volunteers and SMA families. uled for March 1, 2008. breaking year! Concert for a Cure raised The event raised $90,000 for Families of $105,000 for Families of SMA. The SMA. This past June, Rod & Kristi Gellner attendees enjoyed a wonderful evening hosted their annual Jack Attack on at Blackhawk Country Club, featuring SMA in West Fargo, ND, in honor of music, dinner, and a live/silent auction. their son Jack Gellner. This year’s event, To date, Concert for a Cure has raised despite the rain, raised almost $19,000 $430,000 for FSMA, in honor of Danny to benefit FSMA. Even those wrapped McHale, Ariana Dindzans and Isabella in garbage bags and shielded with Andrade! umbrellas had a blast! The 8th Annual Bommarito Automo - tive/Ford Motor Credit & Mazda American Credit Golf Tournament held May 6th 2007 with 232 Golfers enjoying the beautiful day at Whitmoor Country Club for a four person scram - ble, dinner and auction. The auction On March 3rd, Mike and Theresa Smith displayed jewelry items, a Florida Gulf held the 2nd Annual Night to Remem - Condo, baseball tickets and auto - ber Auction for SMA , a silent auction fundraiser for FSMA’s Ohio Chapter. It Family and Friends gathered at the was held in memory of their son Logan Rally for Reagan Golf FORE a Cure on Michael who died in February of 2005. August 19, 2007 at the Oaks Golf They had over 150 people in attendance Course in Cottage Grove, WI. They had and were able to raise $26,000 for Fami - a beautiful day of golf and a fun filled lies of SMA. City Barbeque Restaurant dinner reception with a raffle and silent helped out with some excellent food auction. The event raised an outstand - and Dan Edwards from their local news ing, $16,500 for FSMA, in honor of WDTN-TV donated his time to emcee Reagan Imhoff. for the evening. They had over 100 auc - tion items, including round trip airline tickets for two from AirTran Airways and Southwest Airlines. They also
Directions | Fall 2007 17 FUNDRAISING stars www.curesma.org The 5th Annual Nicole Nadeau Golf Tournament was a huge success!The event, held by Jack & Kim Nadeau of Springboro, OH, raised $13,150 in honor of their daughter, Nicole Nadeau. This is an amazing event that grows each year. The 10th Annual Walk for Shea was held in Centreville, VA, on April 29, 2007 with almost 600 people in attendance. The Shea Racheal Luccasen held a SMA Car Megale Fund raised $10,000 , in Wash in Homewood, AL, in memory of honor of Shea, for Families of her nephew Zachary Luccasen. The SMA to continue funding event raised over $4,800 for FSMA on research for a treatment and what would have been Zachary’s 2nd cure for SMA. birthday. Chris Neeb , of Medfield, MA, partici - Kay and Vince Wittman , of Jerseyville, pated in the Ironman Triathlon. He had IL, held the 12th Annual Amy Wittman an amazing time of 11 hours, 51 min - Golf Classic for Medical Research on utes and 22 seconds. He did so with the June 16th at the Wolves Crossing Golf inspiration of William Johnson, to ben - On March 31st, Brandy Baugher and Course. This event is the largest golf efit Families of SMA, and raised over family , as well as the Star Fund, held the tournament in Jerseyville and is held in $8,000! Crop for a Cure Fundraiser. The event honor of their 21-year-old daughter was held at Parkville Fire Company in Amy. The event charges $30 per golfer Hanover, PA, where 88 women partici - or $120 per team and they usually have pated in a scrapbooking fun-filled day 50 – 60 teams. They give out prizes to from 9am – 9pm. “Crop for a Cure” included great food, door prizes and raffles, free make and take classes, on-site vendors and a silent auction as well as plenty of room to scrapbook and have wonderful conversations with family and friends. They raised over $6,400 for Families of SMA, in memory of Emmy Rose Baugher. Several of the Cleveland-areas top chefs gathered on June 18th at Lockkeeper’s Restaurant in Valley View, OH for the first Amy Wittman Golf Classic Amelia’s Feast, in honor of Chris Neeb and Willian Johnson Amelia Wong. Guests dined on an ele - the golfers and hold a raffle and silent gant seven course meal, each paired auction. With their extremely large fam - Amy Drysdale , of Rochester, MN, held with wines. The event raised $5,260 for ily and many friends they are always another successful pancake breakfast FSMA. able to hold a successful and fun event! fundraiser and raised over $7,200 for This year they raised almost $4,500 for James Robbins and Janet Morgan , of Families of SMA! FSMA, in memory of her daughter Baltimore, MD, donated $5,050 to Fam - Lindsey Ronnigen. ilies of SMA by hosting many benefit concerts between December and May, in honor of their son Callum Robbins.
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Derek Smith Golf Outing
The 9th Annual Derek W. Smith Memorial Golf Tournament was held on May 18th in Winchester, VA, and was Sotero & Marla Ramirez hosted the another great success! The golfers were Peter’s Walk-n-Roll for a Cure , in Monti - a bit damp, but their spirits were high as cello, AR, and raised over $2,300 for they played in the rain. The determined FSMA. The Sugartown Riders won first 75 golfers and 20 volunteers brought place for the most money raised - $350. the tournament to a successful conclu - With such a good time had by all, the sion. The tournament ended with a Ramirez family is thinking about having luncheon and award of trophies. The another walk in the spring! event, held annually by Delores and Bruce Fry, raised $4,400 for Families of SMA. On June 9, 2007, Tim Teehan of Alexandria , Virginia, a good friend of Rocco Arizzi , participated in Granny Gear’s “24 Hours of Big Bear” moun - tain bike race. Tim and Rocco solicited friends and family to sponsor the ride to benefit FSMA. The 24-hour-long race was held at Big Bear Lake Campland in Hazelton, West Virginia. Tim partici - pated in the individual division and raised over $2,700 from sponsors all over the country. My name is Ashley The first annual “Ayden’s Swim for a Hendrickson and I live in The Narragansett, RI Lions Club , along Cure” was held in Phillipsburg, KS on with Denny and Diane Denelle and the July 8, 2007. Ayden Trammell was diag - Carterville, IL. Denelle family held the Pier Plunge nosed with SMA Type 1 in December, On June 11, 1998 I was blessed with a Fundraiser event on January 1, 2007. 2006. Ayden’s friends and family organ - beautiful little SMA angel named Brooke The event was held in honor of Daryl ized the event which consisted of a bal - Leigh Binning. Denelle. The Pier Plunge raised $4,000 loon launch and swim party for all In memory and recognition of Brooke and all for Families of SMA. children who collected donations for the other angels I have started making neck - SMA research. The kids did a great job laces and bracelets/anklets that are the FSMA and collected $2,673 in dona - tions. Bicycles were awarded colors (red and black). for 1st and 2nd prizes and If you are interested in ordering one for your - Walmart donated a $50 gift self or for friends and family you can do so by card for 3rd prize. Many busi - emailing me at [email protected]. nesses in town and Mattel also The necklaces are $5.00 each + shipping and donated many other prizes. handling and the bracelets/anklets are $3.00 Everyone had a great time and Ayden was there and took his each + shipping and handling. first swim. Ashley Hendrickson Ayden’s Sw im for a Cure
Directions | Fall 2007 19 FUNDRAISING stars www.curesma.org The staff and students of Charles A. Thank you to everyone who partici - Bernazzani Elementary School , in pated in Kennedy’s Chick-Fil-A day! Quincy, MA held a gingerbread deco - The Caldwell family raised $400 for rating night at the school. The students Families of SMA, which was awesome! got to decorate their gingerbread men Chick-Fil-A donated 15% of sales, so with all sorts of frosting and candy all they ate an awful lot of chicken and the while knowing that their donation milkshakes!!! The support Kennedy was going to a very worthy cause. They received was just incredible. It really held the event in honor of their fellow made her feel GREAT! student, 3rd grader Aileen Farrell and raised $2,356 for Families of SMA. Wayne & Della Waggoner set up an Donna Abraldes , of Holbrook, NY, vis - information booth at Della’s hospital The students from the Awareness of ited PS 100 school in South Ozone Park, retirement party, in Auburn, CA, in Rare Diseases Club , at Convent of the NY to work with the Penny Harvest honor of their son Jeremy’s 22nd birth - Sacred Heart in Greenwich, CT chose to Team and make some of the care pack - day. They raised $300 for FSMA and raise funds and awareness for FSMA. ages that are sent to newly diagnosed raised awareness about SMA in their They held both a Penny War and talent type I infants. The students also community. show fundraiser. The combined events brought in pennies from home. The raised $2,200 for FSMA. Peter Roper of Mystic, CT, sold Cure roundtable “Penny Masters” students SMA bracelets, in honor of Marley Angie and James Damon hosted a golf from Danielle DiMare’s 5th grade class Robinson, and raised $145 for FSMA. outing and softball tournament in chose SMA to share their pennies with. honor of their daughter, McKenzie. This is the third year that PS 100 has Gina Nee , a mortgage consultant in These events in Brooklyn, WI raised raised $500 for Families of SMA in Montrose, MN, recently donated $80 to over $2,160 in support of FSMA. memory of Deirdre Abraldes. FSMA, a portion of her closing com - pensation, on behalf of her client Ron The Delta Phi Chapter of Phi Tau The University of North Dakota Bach - Silbaugh. Omega Sorority, in St. Louis, MO, has a elors Club , spearheaded by David main goal to help organizations involv - Barta, held the first annual Charity Employees of Grubb & Ellis Manage - ing children. The women chose to again Extravaganza. The event was a free con - ment of Southfield, MI recently support Families of SMA by donating cert and charity raffle to raise money on donated the proceeds from an Art the proceeds from their Trivia Night, behalf of the Jack Attack on SMA, in Show/Fair. They donated $50 for Fami - totaling $1,500. honor of Jack Gellner. The event was lies of SMA, in honor of Elizabeth & held on December 3rd at the Christus Olivia Werstein. Robert L. Monetti, Custom Builders, of Rex Lutheran Campus Center in Grand Brielle, NJ held an “Egg Hunt for Char - Forks, ND and raised $466 for FSMA. ity” and asked the attending families to donate to a children’s charitable cause. They raised $790 for Families of SMA, in honor of Anna Landre. Weddings Through raffle ticket sales and dona - tions made to FSMA, Sandra Cromer, David and Jen Antila, of of Hanover, PA, raised almost $550 in Minneapolis, MN, donated to memory of her granddaughter, Emmy Families of SMA in honor of Rose Baugher. The Z-Club Annual Car Show was held their wedding day. They made Tom & Rita Shutes of Lafayette, IN, on July 15th at Bommarito Nissan in St. the donations in honor of held their first garage sale to benefit Louis, MO. The Z-Club Board Mem - Charlie Cowan. FSMA. The Shutes family raised $500 in bers and Steve Coleworthy, General memory of their daughter Audrey Sales Manager, helped with the car Katie and Joseph Hartley, of Nicole Shutes. show. Kathy Goodyear, Janet Hutchin - Abington, PA made a donation son, Candy Carpenter and Rita Schmidt to Families of SMA in honor of sold refreshments, which were donated their many wedding guests. by the Z-Club, to raise funds for Fami - lies of SMA. They raised $420.
20 Directions | Fall 2007 1-800-886-1762 FUNDRAISING stars
Hosting a fundraiser is a wonderful way to raise awareness and funds for SMA. Whether large or small, this is a great way to get friends and family more involved with fundraising for Families of SMA. We couldn’t accomplish our goals to find a treatment and cure for SMA without your help. This year our chapters and individual families did an absolutely outstanding job fundraising! Their accomplishments include: • Over 30 Walk-N-Rolls. • Over 20 Golf Tournaments. • 8 Dinner & Auction Galas. • 5 Bike Races and Marathons. Other great events held throughout the year included: • Swimming Events. • Community BBQ’s. • Ski-a-Thons. • Garage Sales. All these events raised over $2M in just the last year! We need your help and support in 2008. Please call us or email if you have ideas or questions and would like to get involved. Call: FSMA at 800-886-1762 Email: fundraising atfsma.org
Directions | Fall 2007 21 www.curesma.org Holiday Letter Writing Campaign 2007
Did you know that a majority of our donations come from families and friends?
Did you know that a FSMA letter campaign held in 2003 raised over $250,000?
This holiday season FSMA needs your help. It is as easy as A, B , C:
A. Fill out and mail, or fax the form below or email the information to let us know you want to participate. B. Compile your mailing list and write a brief letter explaining to family, friends, doctors, therapists and co-workers, why FSMA matters to you.* C. Take the packet that FSMA sends you (with the campaign letters and return envelopes) and MAIL!
FSMA will send thank you notes to anyone who donates and notify you of the donations recieved on your behalf. We hope you will join us in this campaign. Together we will find a cure! Call us at 800-886-1762 or email [email protected] with any questions.
*If you need help with a letter, FSMA has examples available – check the web site under the fundraising section or call/email the office and we can send them to you.
Families of SMA Holiday Letter Writing Campaign
Yes! I want to help, please send me Full name(print):______Address:______(number of letters) City/State/Zip:______Phone:______Email:______
Return form by FAX: 847-367-7623 or Email your information to: [email protected] Mail: FSMA, PO Box 196, Libertyville, IL 60048-0196
22 Directions | Fall 2007 signed has been de This section des it out. It inclu ble you pull to ena ation forms, ip forms, don membersh ction. memorial se MEMBERSHIP form as well as a
Family Name
Address
City, State, Zip Suggested Annual Donation for Membership Home Phone Family $30 Work Phone Professional $35
International $40 Mobile Phone
* We ask for a donation for membership Mother/Wife/Guardian to help cover the costs associated with the printing and mailing of our newslet - ters. You should receive quarterly Father/Husband/Guardian editions of both the Directions newslet - ter and Research Compass. We hope Relationship to affected person that these publications provide valuable information and useful support to all our members.
Payment Method Affected person name I Check M / F Date of Birth I Money Order
I VISA SMA Type I Mastercard I Discover Current Status
$ Date of diagnosis Date of death (if applicable) Amount enclosed or to be charged
Credit Card # Other persons NOT affected by SMA (siblings, children, parents)
Expiration Date Name M / F Date of birth
Name M / F Date of birth Name on card Can we add your name/address to our family contact list? I YES I NO
Signature
Return form to FSMA Membership , PO Box 196, Libertyville, IL 60048-0196 or FAX to 847.367.7623
FA07
Directions | Fall 2007 23 FSMA forms www.curesma.org Donation Form FA07
I want to make a donation in the amount of $ Payment Method I Check I Money Order In honor of I VISA I Mastercard I Discover
Credit Card # Donor Name
Donor Address Expiration Date
Notice of donation –Name & Address Name on card
Signature Return form to FSMA Donations , PO Box 196, Libertyville, IL 60048-0196 or FAX to 847.367.7623
Gift Certificate Order Form FA07
Gift Certificate vendor list available online or by calling 800-886-1762. Payment Method Retailer Qty $ Amount TOTAL I Check I Money Order I VISA I Mastercard I Discover
Credit Card #
Expiration Date Shipping Up to $499 - $8 • Over $500 - $10 Subtotal $______Ship order to Shipping $______Name on card Total $______
Signature Phone Return form to FSMA Gift Certificates , PO Box 196, Libertyville, IL 60048-0196 or FAX to 847.367.7623
Merchandise Order Form FA07 Item Size Qty Description $ Amount TOTAL Payment Method I Check I Money Order I VISA I Mastercard I Discover
Credit Card #
Shipping Up to $25 - $4 • $26 to $50 - $7 • $51 to $75 - $10 • Over $76 - $13 Subtotal $______Expiration Date Shipping $______Ship order to Name on card Total $______
Signature Phone Return form to FSMA Merchandise , PO Box 196, Libertyville, IL 60048-0196 or FAX to 847.367.7623
24 Directions | Fall 2007 1-800-886-1762 LOVING memories Mia Garza a bright, beautiful and lovely daughter past away on 4/14/07. She brought us joy and happiness we would of never known without her in our life. She made us grow and learn to love without conditions. We are so blessed to have such a great gift be placed in our life. Thank you FSMA for your continued research and support. May the cure be found soon.
ASHLEY BROOKE PAITE 2/8/07 - 4/8/07
IN MEMORIAM ETHAN CHITKARA MAKENZIE MITCHELL 6/19/06 - 10/02/07
NATHAN P. L IGGINS 12/30/05 - 8/30/06 In Loving Memory To the Families of SMA, BROOKE LEIGH BINNING This letter is in loving memory of 6/11/98 - 12/18/02 Nathan P. Liggins. Our son past away August 30th, 2006. He was only 8 months old and was diagnosed JACKSON HEDGEPETH with Type I SMA. 1/5/07 - 5/15/07 It has been extremely difficult to accept, grieve and cope with. Our family and close friends have truly helped us get by. And at the same time, very thankful that our 4 year old daughter is healthy and SMA free. We had raised money in November through the Walk-N-Roll in Burbank, CA and now I humbly send a donation on behalf of my coworkers and students. The story behind it is sweet. My coworker and close friend, Mr. Miranda and along with Mr. Jordon and oth - ers, are both teachers at the intermediate school where I teach. They asked for my permission to inform the students about There will never be enough words to thank Nathan and what happened to my family. They had a fundraiser you for all of the support to my family. Families and in only one month they raised $300. – All in Nathan’s mem - of SMA is the greatest! We knew that every ory! I cannot thank them enough for wanting to help other chil - question, concern, problem, whatever came dren stricken with SMA and help find a cure. In addition, to up, would be answered with one phone call celebrate our daughter Katelyns 4th birthday, we held a party and to you. Our J-Man is free now but we will decided to donate all of her monetary gifts to you in honor of continue to fight this horrible thing and look Nathan. forward to finding the cure very soon! We love and miss him so much! Thank you for everything! Sincerely, Nichole and Joseph Hedgepeth, Silvia and Paul Liggins, West Covina, CA Proud parents of Jackson Cole
Directions | Fall 2007 25 FSMA merchandise www.curesma.org
FSMA Holiday Ornament | $4
Snowman or Angels Holiday Note Cards | $5 of Hope Cards | $8 Alyssa Silva’s “Working on Set of 8 cards. Specially Walking” note cards for the created for FSMA by holidays. 5 different cards. Silvia Heller.
12 Fruit Notecards | $6 4 each of 3 designs (12 cards). Artwork by Holly Campbell, in memory of nephew Charlie, SMA Type I. License Plate Frame | $7 Angel Wing Pins | $10 SMA Awareness Pin | $15 One design in sterling silver.
12 Window boxes Notecards | $5 FSMA Lapel Pin | $5 4 each of 3 designs (12 cards). TOTES
Cotton Tote bag with Zipper | $17 Canvas Tote | $15ea. Together design. Choose either Flower or Seascape Canvas Tote | $10 FSMA Car design. Artwork by Katie Gardner CureSMA design. Magnet | $5 11/89 –4/03. 1 design.
26 Directions | Fall 2007 1-800-886-1762 FSMA merchandise
12 Charlie Notecards | $10 Cookbook for a Cure | $14 Artwork by Merrle Peterson, in The FSMA cookbook contains memory of son Charlie, SMA Type I. almost 400 recipes from SMA families all over the world!
Spring Note Cards | $6 Donation Gift Card Alyssa Silva’s “Working on Walking” $10ea. or 5 for $40 note cards. 6 different cards. Cure SMA Bracelet | $2 Have you ever needed a gift Available in small or large. for a teacher or a birthday Created in honor of Steven Potter. gift for a “hard to buy for” person? These elegant cards are a perfect gift for when you want to thank someone for their kindness, honor someone who makes a dif - ference in your life, or mark a celebration. Instead of buying teachers, doctors and anyone else another scarf or trinket, consider giving a FSMA gift card.
FSMA Ladies Vest | $30 Blue sizes: XS M L XL FSMA “Moving Black sizes: S M Forward” T-Shirt | $12 Sizes: S M L XL
Wipe Out SMA | $12 Cure SMA T-Shirt | $12 1 design on short sleeve shirt. 1 design on short sleeve red or Kid sizes: 2/4 6/8 10/12 14/16 white shirt. Adult sizes: S M L XL Kid sizes: 2/4 6/8 10/12 14/16 Adult sizes: S M L XL
“Together” T-Shirt | $15 (short sleeve) $18 (long sleeve) rders to 1 design on navy shirt. Kid sizes: 2/4 6/8 10/12 14/16 Mail your O l Office Adult sizes: S L XL. MA Nationa FS 623 o 847-367-7 Long Sleeve, Kids sizes only: 2/4 6/8 10/12 14/16 or fax t 4 is on Page 2 Order form
Directions | Fall 2007 27
1-800-886-1762 CHAPTER info Alabama Chapter (since 2005) Louisiana Chapter (since 2005) Rocky Mountain Chapter (since 1998) P.O. Box 43918 P.O. Box 1189 P.O. Box 1913 Birmingham, AL 35243 Prairieville, LA 70769-1189 Arvada, CO 80001 Phone: 205-979-6493 Tel: (225) 744-3812 Tel: (970) 349-0418 or Tonya Willingham, President – Krista Scurria, President – (877) 591-4023 (toll free) [email protected] [email protected] Loree Weisman, President – Arizona Chapter (since 1997) Michigan Chapter (since 2004) [email protected] P.O. Box 641 P.O. Box 500, Ada, MI 49301 South Jersey/Delaware Chapter Queen Creek, AZ 85242-0641 Tel: (517) 669-1665 (since 2002) (480) 752-8093 Ken Armbrustmacher, President – PO Box 538, Medford, NJ 08055 Karey Kaler, President – [email protected] or Tel: (866) 774-9533 [email protected] [email protected] Jessica Moyer, President – Chesapeake Chapter (since 1995) Minnesota Chapter (since 1992) [email protected] P.O. Box 354 P.O. Box 1961 Southern California Chapter Cockeysville, MD 21030-0354 Maple Grove, MN 55311 (since 1999) Tel: (800) 762-0113 or (410) 561-9355 Tel: (763) 370-6460 1070 E. Orange Grove Barb Trainor, President – Jeff Cowan, President – Burbank, CA 91501 [email protected] [email protected] Tel: (818) 846-6589 Connecticut Chapter (since 2003) New England Chapter (since 1987) Rosemary Roope, President – PO Box 185744 P.O. Box 2902 [email protected] Hamden, CT 06518 Woburn, MA 01888 Tennessee Chapter (since 2001) Tel: (203) 288-1488 Tel: (978) 256-9007 P.O. Box 7025 Jonathan Goldsberry, President – toll-free (877) 256-9111 Knoxville, TN 37921 [email protected] Jim Gaudreau, President – Tel: (865) 945-7636 [email protected] Illinois Chapter (since 2006) Lise Murphy, President – P.O. Box 684 Northern California Chapter [email protected] Grayslake, IL 60030 (since 1998) Texas Chapter (since 2005) Tel: (847) 373-3762 P.O. Box 9014 PO Box 627 Janet Schoenborn, President – Santa Rosa, CA 95405 Hutto, TX 78634 [email protected] Tel: (707) 571-8990 512-846-2239 David Sereni, President – Iowa Chapter (since 2000) Eric Ostermeyer, President – [email protected] P.O. Box 326 [email protected] Johnston, IA 50131 OKI (Ohio, Kentucky & Indiana) Western New York (since 2003) Fax/Phone 515-986-2181 Chapter (since 2004) P.O. Box 444 Michelle Soyer, President – P.O. Box 541012 North Tonawanda, NY 14120 [email protected] Cincinnati, OH 45254 Tel: (716) 622-0804 513-753-8222 Kansas City Area Chapter (since 2004) Bonnie Shiesley, President – Beth Lockwood, President – P.O. Box 1214 [email protected] Mission, KS, 66222 [email protected] Wisconsin Chapter (since 1999) Tel: (913) 262-6468 Pacific Northwest (since 2006) P.O. Box 7402 Natalie Gibbs, President – P.O. Box 173 Madison, WI 53707-7402 [email protected] Galvin, WA 98544-0173 Tel: (608) 223-9408 (206) 861-3587 Long Island New York Chapter Marta Meyers, President – Rick Jones, President (since 2006) [email protected] PO Box 322 [email protected] Rockville Centre, NY 11571 Pennsylvania Chapter (since 2003) Tel: (516) 214-0348 Box 4307 Debbie Cuevas, President – Philadelphia, PA 19118 [email protected] (866) 647-8113 Karen McRory-Negrin, President – [email protected]
Directions | Fall 2007 29 CHAPTER updates www.curesma.org
Illinois Chapter Families of SMA Illinois Chapter 1st Annual Walk-N-Roll Sunday, June 24, 2007 in Schaumburg, Illinois at the Hyatt Regency Woodfield The Families of SMA Illinois Chapter was honored to host its 1st Annual The Krajewski Family Walk-N-Roll on June 24, 2007 at the Hyatt Regency Woodfield in Schaum - Samuel & Janet Schoenborn burg, a gathering that offered a wonder - ful conclusion to the FSMA Family and “Silhouette Images Against SMA” Professional Conference. The weather Portrait Party—Update was most definitely in support of the Held on Saturday, March 10, 2007 in event, and over 200 individuals came Lake Forest, Illinois out to participate and join in on the fes - tivities throughout the day. Many The portrait party & fundraiser “Sil - thanks go out to the generous sponsors houette Images Against SMA” was and donors who helped make the Walk- hosted by Carolyn Eichelman, Illinois Harley, Amy and Danielle Marquez N-Roll a tremendous success, including Chapter Board Member, in her home, Tito Renghini from Good Tymz Enter - in honor of Samuel Schoenborn. The tainment, “Mr. Pick It” from Harris Kal event took place on Saturday, March 10, Productions, Dave Stritter from Magic 2007 between the hours of 10:00 AM & Dave Productions, Walk Disney World, 5:00 PM, and raised $1,500 to aid Woodstock Harley Davidson, Starbucks research and help put a stop to Spinal Coffee, Einstein Bagels, Dunkin’ Muscular Atrophy. Many thanks go to Donuts, Tree Top Juice, Sam’s Club, Carolyn and all who assisted with and Carabassa Restaurant, Baby Einstein, participated in this event, and congratu - Comcast, Omnicare Pharmacy, the lations on a job well done! Spina Family, Brian Schoenborn, Tina Shop for a Cure Update...Festival to Krajewski, Sandi Potempa, and the Benefit SMA The St. Onge & Shofner families Moms’ Club of Chicago! As a direct Sunday, March 11, 2007 in Libertyville, at the Illinois Walk result of the efforts and support put Illinois forth by all involved, the Illinois Chap - Sherri Kullander & family hosted the ter Walk-N-Roll has raised $33,000 to 9th Annual Fundraiser for Spinal Mus - date, with donations still rolling in. cular Atrophy on March 11, 2007 in Thank you to all who have helped make Libertyville, Illinois, which consisted of this event an amazing experience and a a shopping extravaganza and an after - huge success! noon packed with fun events. Guests were able to purchase favorite items from vendors such as Longaberger®, Pampered Chef®, Partylite®, Tupper - ware®, and Tastefully Simple®, to name a few, in addition to trying their luck at the raffle bursting with an array of items. Once again, this event proved to be a huge success, raising nearly $5,300 for SMA research! Sherri and family, as always, thank you for all your effort and Lee continual support of Families of SMA. Jungin Angie Chloe’s Crew
30 Directions | Fall 2007 1-800-886-1762 CHAPTER updates
OKI Chapter town. This is the 4th year for this garage sale in honor of Walk-n-Roll Kentucky 2007 Emma and Nicholas Lockwood, the Uhlenbrock’s niece and nephew who have SMA Type 1. They, like many others want August 11th, over 125 people took part in the first annual to do what they can to help find a cure for this disease. Lots Kentucky FSMA walk n roll at Keeneland Racetrack. The of families and their friends donated items for the sale help - walk route louped through horse barns and out through ing to raise over $5,000 Keeneland grounds. Entertainment included facepainters, a for research. Just wanted clown, live band and a raffle. The raffle was m'ceed by local to mention their grand celebrity Dave Baker. To date, over $6500 has been raised for total for the 4 years is FSMA. Thanks go out to the KY FSMA committee - Connie over $11,800…that is Allen, Kim Bucci, Amy Craiglow, John Cropp, Michelle very impressive and a big Schlafer, Sarah Snider and Sandee Woodworth and also to help in finding a cure! A the Lockwoods and Linda Schwab for all their help in mak - BIG THANKS to Shelly, ing the first KY FSMA walk a success. Rick, and their family The FSMA Annual Garage Sale took place June 15th and and friends for all their 16th at the home of Rick and Shelly Uhlenbrock in New - hard work! Cross Town Rollout
Louisiana Chapter Kansas City Chapter
Directions | Fall 2007 31 CHAPTER updates www.curesma.org Pennsylvania Chapter It has been a year of change for our Chapter. It is with extreme gratitude that we thank our founding Treasurer, Connie Smith, for all that she has done to launch our Chapter. Due to expanding career responsibilities, Connie has decided to step down from her post. We are proud to welcome Josephine Tripodi, grandmother to Jake Saxton, as our new Chapter Treasurer! She has hit the ground running, and with our 4th Colorado Chapter Walk & Roll Annual Walk-n-Roll only weeks away…we could not be more apprecia - Iowa Chapter tive! We are also excited to announce the The Iowa walk-n-roll (at the school) was in honor of Elijah Brock. addition of two more Chapter Officers! With change, there is always great potential for growth. Allyson Henkel, mom to Peter, has worked hard to for - tify our Corporate Sponsorship base. Allyson has agreed to lead as our Cor - porate Sponsor Chair. In an effort to maximize our family out - reach, Paula Saxton, mom to Jake, has stepped up as our Membership Chair. She is also working to promote aware - ness through the media in the Philadel - phia region. Western NY Chapter The weather was perfect for the Western NY Chapter walk. About 400 par - ticipants had an amazing day. We raised over $50,000! Many thanks to Tammy from Strip-tees for replacing 1/2 of our shirt order at the last minute because UPS damaged it. She certainly saved the day.
The Saxton Family
ested in Are you inter w chapter starting a ne of SMA? for Families act our Chapter Nairi’s Walk Please cont Trainor at for SMA in dinator, Barb Coor t.net New Jersey! peake@comcas New England Chapter fsma-chesa
32 Directions | Fall 2007 1-800-886-1762 KIDS corner Morgan Kelly is a Fighter By Angela Floyd
y name is Angela Floyd and I organizations to work in partnership am Morgan Kelly’s Mother. with parents and other organized MMy daughter Morgan is a groups, to enhance service delivery for Fighter! I have taught her well! those who simply seek to have a chance About 25 months ago we started the to succeed in this world. process for a power chair for Morgan. I also reach out in partnership to mem - Never did I imagine that I would have bers of the business community to work to pull an army of people together to in close collaboration with the disability help me help Morgan get the chair she community to do their part to make so desperately needed. things better. I found myself contacting anyone and In thinking about what I could say at everyone that would listen. the end of my story that would be inspi - With the help of Craig Kraft - seating rational, I do admit to having a short director, Suzanne Weiss - speech /lan - but temporary period of writers block. guage pathologist Arleen Sands - Physi - What could I possibly say to be of inspi - cal Therapist, Mike Bobala - Seating ration to you? specialist, Dr. Cara Novick - Orthope - And then, I realized how in striving for dics, The Shiriners Orthopedic Chil - inspiration, words were completely dren’s Hospital in Tampa FL, Douglas Morgan in her New Power chair. She unnecessary, because the only thing that Towne and Robert Figueroa - of the previously had a manual chair. any of us needs to do for inspiration is Disability’s Realtions Group, Bruce Bays to look to kids like Morgan and others - President and CEO of Custom Mobil - support given by everyone that I con - who simply want to grow up to be ity, Inc., Lyndie Gordon -Senior Attor - tacted whether in direct ways or in happy, healthy, and productive citizens, ney for the Advocacy Center for spirit, my beautiful little girl is better just like everyone else . able to be just like any other vibrant and Disabled People, Governor Charlie We need not pity them. We instead just Crist, Congressman Adam Putnam, energetic nine year old. She moves about at will, just like other kids, and, as need to give them a hand up to enable State Senator Paula Dockery, State Rep - to take on their own fundamental sense resentative Seth Mckeel, Ollie Cantos - every other child who has gone before her, she now even has the ability to drive of personal responsibility to make their Associate Director for Domestic Policy way in the world and to give to the at the White House for his Strength and her parent’s crazy by not staying in one place for very long. world in the same way that others with - support…Last but not least myself. out disability give. In so doing, they As you can see quite the army. And with There are, of course, other children out inspire us. And, as we learn from their everyone’s help the day finally came! there who are just as deserving of example and do our part to make a dif - assisted technology as Morgan. Like her, This is a wonderful day indeed, not just ference, we in like manner may inspire they too have their own hopes and them. because it represents the next chapter in dreams, goals and aspirations, like her Morgan’s life, but because it symbolizes and as every parent and guardian will Thank you for reading my thoughts and the kind of independence that is truly rightfully assert, they deserve freedom story on how we fought the government possible when children are provided too. And so I take this priceless oppor - and WON! She is my little hero. Every - with the tools and equipment that turn tunity today to call upon officials in one just KEEP fighting . the dream of empowerment into a government to take their rightful place Angela Floyd definable and concrete reality. This has of leadership by finding ways to been a long journey, but the value of the increase their support for the independ - destination has most certainly been ence of this states children with disabil - worth the effort. Thanks to the help and ity’s. I also call upon non- profit
Directions | Fall 2007 33 KIDS corner www.curesma.org My Story By Hannah Soyer
When my mom told me I would be about what we did when these situa - mering like a thousand angel wings: attending this year’s Kids Talk It Out tions occurred and how to deal with “I wish I didn't have SMA.” session (ages 10 and older), I’ll admit I these things. “I wish we could find a cure for SMA.” was a trifle nervous. In my mind, dis - Dr. Al then asked us what were some “I wish everyone with SMA could cussing your affliction with other kids advantages to having SMA? We all walk.” dealing with the same thing seemed agreed that getting to cut in line, getting awkward. Adults would say that it in free to certain places, driving fast (of “I wish we could all be accepted and not would give us a chance to give each course), and having the opportunity to judged.” other advice and know you're not alone, meet a lot of great people were defi - “I wish I could run and jump.” but truthfully, or so I thought before the nitely some. “I wish more people would know about session, what is there to discuss? I mean, I think the question that made me think SMA.” the other kids there know what you’re the most was “If you could have one day going through, but it’s just a fact of life. “There was no such thing as SMA.” where your wheelchair wasn’t needed, I had SMA and the sooner I learned to I myself had to pass when it came to what would you do?” What would you accept that the better. That was proba - me. All the things mentioned were do, Hannah? I caught myself thinking. bly the one and only thing I had right. things I wished for also. Weren’t they? Many ideas popped into my head such Yes. Obviously. But still. As the session On the morning of the session, I rolled as travel to Europe, go sailing, or spend ended and we gathered around for a into the room where we would be gath - a normal day walking and see how peo - group picture, I wondered. When you ering, and was introduced to Dr. Al ple react. I pictured each of these expe - got down to the truth, no, the very core Freedman, a psychologist from West riences in my mind, savoring every one. of the truth, I would feel incomplete Chester, Pennsylvania. He would be And yet, and yet…something was defi - without my disability. leading the session alongside Ms. nitely missing. What was it? My chair? Angela Wrigglesworth, a third grade The usual struggle I had learned to turn A cure for SMA would be miraculous. teacher from Houston, Texas, who was into an adventure? The stuff that made Many lives would be saved and tears diagnosed with SMA Type ll. up me? would be dried. However, I can’t help but feel…lucky to have experienced the I was determined to talk as little as need I finally decided I would go to my dance opportunities I have in my twelve years be so as not to draw attention to me. studio, where I take wheelchair dancing, of life. However, as everyone formed a circle and participate in all the other classes. and the introductions began, I began to Something would still be missing, but at As much as I felt nervous about attend - ease. least I would be doing something I ing the Kids Talk It Out session, I was so The first question we discussed was couldn't do otherwise. glad that I did. I had met new friends, acquired new ideas, and learned such an “What are some disadvantages of hav - Other kids said: “I’d climb a tree”, “I’d abundance of things it is hard to put ing SMA?” We went around the circle, play hopscotch”, “I'd sneak out of my into words. many kids saying: “people staring”, bed and play when my mom and dad “watching friends do stuff, such as run - were sleeping”, “I’d do lots of things “Bye, thanks for coming!” Ms. Angela ning or jumping, that we can’t do”, with my friends and I’d feel normal”, and Dr. Al said as I followed everyone “sometimes places we go aren’t accessi - “I’d run around and be happy all day”, out the door. “I’m so glad you came!” I ble for our wheelchairs”, and, sadly, “I “I would like to bungee jump off a 300 paused and smiled before venturing out sometimes feel like a burden to my fam - foot bridge over a river”, and “I’d walk into the chaotic entrance-way of the ily when they take me out because it’s so around all day at the mall and go shop - hotel. “Thanks,” I said to each of them. I much work for them to take me”. I ping.” meant it. finally worked up enough courage to By now, our session was drawing to a Hannah Soyer is twelve years old and is contribute by saying that I hated it close. “One more thing before you affected with SMA Type II. when I would be with my friend and leave,” Dr. Al said. “Let’s all go around She lives near Des Moines, Iowa, with her someone would come up to us and say and say one wish that we have.” We took mom, dad, older brother, and cat. “What's her name?” (meaning me), to a minute to ponder this. I could feel all my friend instead of me. We talked the wishes suspended in mid-air, shim -
34 Directions | Fall 2007 1-800-886-1762 KIDS corner 2nd grader John Delaine Fuller, Rice raised $5 for of Saginaw, TX, FSMA in honor of raised $275 by his friend and fel - having a lemon - rshall low Boy Scout Alex ade stand in ie & Alex Ma Jul Marshall. honor of her best friend Savanna Lindsay May, of New Washington Middle-High School Rush. She sold Quincy, IL, held a leaders of America with Jenica Miller lemonade and baked goods. She worked lemonade stand at her lemonade stand from 10:30 am – Family and Consumer Science Teacher, this summer, 5:00 pm and only took one break to go Juanita Oakley’s New Washington Mid - where she sold to the bathroom – in 90 degree weather! dle/High School Chapter of Family, lemonade and Delanie also designed adorable t-shirts Career, and Community Leaders of made cookies. She that were worn by all of Savanna’s loved America made raising awareness of raised $30 in ones. memory of her brother Christian May. Spinal Muscular Atrophy one of their service projects for this year. They made Mitchell Kotheimer and his classmates, Katelyn Liggins, of West Covina, CA, a bulletin board about SMA and con - John Mino, Natalie Kosir and Angela donated all of her 4th birthday money ducted a fundraiser for SMA research in Brekalo, from Peaceful Children to Families of SMA in memory of her honor of Jenica Miller, SMA Type II. Montessori School in Kirtland, OH, brother Nathan. The fundraiser included hosting a raised funds for Families of SMA. They school wide hat day and collecting collected $100, in honor of Mitchell’s For Veronica St. Onge’s 3rd birthday, donations at the school and from the brother Jack, by walking the neighbor - Debbie and Robert St. Onge, of Bigfork, community. The students raised $623 hood streets gathering money and dis - MT, asked their friends and family to for FSMA. tributing information about SMA. give donations to Families of SMA in lieu of birthday gifts. Thanks to the gen - 8-year-old Philip Meneghini, of Haven - erosity of Veronica’s Dads company, hill, MA, raised $1,000 for Families of they were able to raise $730 for FSMA. SMA, by running the Bradford Valen - tine Race. He wanted “to do something” for his little sister Victoria, who passed away in 2003. The Greenfield Elementary School, in Greenfield Center, NY, held a student council Walk-a-Thon. They raised $120 for Families of SMA. Grant Stoner, Allie Yurkovich and Cameron Ruby, of Jefferson Hills, PA, held a lemonade stand to raise funds for Congratulations to John Families of SMA. They raised $50 at Burton who has been their sale! selected as one of Kankakee For Tommy Testa’s 6th birthday party, Valley High School’s Super At Lexus Stipanovich’s 9th birthday The Testa family, of Boardman, OH, Seniors. John hopes to party in May, she asked her friends and asked The Ohio 501st Garrison to attend the University of Illi - family to donate to Families of SMA attend. This organization’s members are nois next year to study instead of buying her birthday gifts. She Star Wars enthusiasts who have authen - engineering. In addition to raised $585 for FSMA in memory of her tic looking Star Wars costumes. They his academic excellence, brother Myles. collected donations from friends and John is an amazing volun - family. They raised $220 for Families of teer and role model for SMA! It was a big hit for Tommy and Families of SMA. He is also his friends, while they helped to raise involved in his church's money for a cure. youth ministry, 4-H and National Honor Society.
Directions | Fall 2007 35 KIDS corner www.curesma.org Charlie Vincent, and his From Children’s Talk It Out Third Grade Class at Scott Sessions –FSMA Conference, Elementary School, in West Chicago, June 2007 Bloomfield, MI, sold SMA Facilitated by Al Freedman, Angela Wrigglesworth, Bracelets to raise funds for and Rocco Arizzi FSMA. They raised an amazing $838 for FSMA, in memory of Charlie’s sister Jessica! The students of PS/MS 43 in New York, NY, held a Penny Harvest in honor of Alexa Rodriguez. The kids raised $250 dollars worth of pennies for FSMA. The students at Hearn Elementary of Frankfort, KY, held a Penny War for FSMA. The students raised $559 to help support research for SMA. For the 7th year the West Rocks Middle School’s Commu - nity Service Club in Norwalk, CT, held a Penny Drive fundraiser in honor of Cubby Wax. Cubby’s mom, Laura, is a well respected sixth grade teacher at West Rocks Mid - dle School and they wanted to support a worthy charity. The students raised $1,112 to support research for FSMA. Lydia Wallis, of the Stars Team in Longview, TX donated $190 in honor of Matthew Wallis. Go Stars Team!
Dear Families of SMA, For my 8th birthday, I asked my friends to donate or give me a check for FSMA instead of a gift. Some of my friends gave me gifts and donations. I would really like the doctors to find a cure for SMA. My baby cousin, Colin Lynch, died from the disease of SMA and I really wanted to do something in his memory. I really miss him. “If you could have one day out of your One of my friends has a family friend who has SMA and is 18 years wheelchair, what would you do?” old. He is now in college in California and I am going to try to get in I’d play basketball with my I’d walk around all day at the touch with him to see how he is doing. brother. mall and go shopping. I hope you can make a cure for SMA! I would like to bungee I’d do lots of things with my jump off a 300 foot friends and I’d feel normal. From your friend, Erik Fenstermaker, Philadelphia, PA bridge over a river. I’d run around and Go snorkeling and skydiving. be happy all day. I would go right to the dance I’d go swimming. studio and dance all day long. I’d race cars. I’d go rock climbing. I’d jump rope and go on I’d go out for a jog and then the swings all day. I’d drive a car. I’d run after my brother. I’d run around and I’d play hopscotch. jump everywhere and trick my sister. I’d sneak out of my bed and play when my mom I’d invite all my friends over and dad were sleeping. and jump and skip up to all of them and say hi. I’d have a sleepover with my friends and sneak up on the I’d climb a tree. top bunk.
36 Directions | Fall 2007 1-800-886-1762 SHARING page Share the Power of a Wish ®
very child has a dream – and the and loved the personal attention she Make-A-Wish Foundation is ded - received from everyone during her Eicated to making dreams come Make-A-Wish trip. true for children with life-threatening There are many children just like Lizzy medical conditions by granting his or who could benefit from having a wish her favorite wish. Elizabeth, who has granted. Many Make-A-Wish families Spinal Muscular Atrophy, realized a view their child’s wish experience as dream come true when the Make-A- part of the treatment process because it Wish Foundation arranged for her to provides a renewal of hope and allows meet her favorite princesses. each child the opportunity to concen - Three-year-old Lizzy is a bubbly young trate on the magic of being a kid. girl from Illinois who loves dolls and To be eligible for a wish, a child must be watching princess movies. She often under the age of 18 with a life-threaten - dresses up like a beautiful princess with ing medical condition. There is no wait - glittery hair bows and sparkling jewelry ing list to have a wish granted and there make her feel the most elegant. Accord - is never a cost to the family. ing to doctors, Lizzy is a “miracle baby.” Children can be referred by their par - Born with Spinal Muscular Atrophy, she ents, their medical professional or even was given six months to live after birth. him-or herself. Because of her condition, she has to make frequent trips to the doctor and If you would like more information must use a wheelchair. about how to refer a child for a wish, contact the Make-A-Wish Foundation. To Lizzy, her wish represents apprecia - tion for life and a memory that will Elizabeth Hallam enjoys remain in her heart forever. Her parents her Make-a-Wish said that Lizzy had the time of her life experience.
You Have The Power To Grant A Wish! chil-
I f
My daughter McKenzie Damon’s a 3rd grade class in Brooklyn, WI made a donation in her honor when we had our SMA golf outing. The kids donated $35 in honor of her. I have attached a picture of the class. I will be sending the 800.722.WISH check in with several other checks from the golf outing and our soft - ball tournament we held in April www.wish.org and May.
Directions | Fall 2007 37 SHARING page www.curesma.org
Grace Degraffenreid Cassandra Evans Sami & Cole Steven Amelia Wong Abraham
Britta Halvorson Ayden Trammell Jake and Rachael Saxton Christian Perez
Sykora hy Murp Family at r Potte Disney
C Julia Bartczak Ally Krajewski and Sofia Salus olby Russ David and Sean Smith
38 Directions | Fall 2007 1-800-886-1762 SHARING page
Nicole, Joseph and Jackson Cole Hedgepeth
Tambryn and Braelyn Campbell Melissa and Claudia Jerika Bolen and friend Milinovich Amanda
ett Wilson The Bahrenburg Family ykora and Br Lily, Charlie S
Courtney Brooke Rosas
Evan and Nathan Deddeh Amy & Russ Colby and Judy Berry Kristin and Payton Webb
Directions | Fall 2007 39 SHARING page www.curesma.org My name is Anita Balistrei and I was born on July 24, 2006 in Palermo, Sicily. At the age of 6 months old, my mom, dad and family noticed Kaitlyn’s Story that I wasn’t developing with my would like to tell the moving skills (like crawling and story of a most beauti - doing a lot of things that babies Iful girl. The girl is our do at that age). daughter, Kaitlyn. Kaitlyn My parents took me to the pedi - was born April 24, 2002. She was a load, squirmy atrician and they tried therapy, and perfect baby. Three but that didn’t work. The doc - months later, Kaitlyn was tors then recommended for my parents to take me to Milano diagnosed with SMA type to see some specialists as to why I don’t crawl or sit up by 1. We’ll never forget the myself. My blood tests revealed that I have the SMA gene. words, “Take your daugh - ter home and love her. She My Mom & Dad and entire family just love me and couldn’t will not make her first birthday and for sure not her second” imagine life without me. I really light up the room. I am always Well Kaitlyn made her first, second, third, fourth and now her smiling, I love to eat and yes I laugh often. You can see me in fifth birthdays!! Living with SMA is not something we wanted my pictures (there will be more to come) that I have a sparkle but we would not change our lives with Kaitlyn. Like the Garth in my eye. Brooks song says “ I could have missed the pain but I’d had to miss the dance” That is exactly how we feel. My Mom & Dad take me to the beach and I enjoy going in the Kaitlyn lives a great life everyday by strength, love, stubborn - water. Although I can’t crawl or walk right now, I am hoping ness, and the help from many interventions. Kaitlyn used a bi- that I will someday and be able to receive all of the medical pap machine, cough assist machine, she is hooked to an care available for children with SMA. They don’t know my type oximeter, she is tube fed, suctioned, has chest and ROM thera - yet, but think it might be 2. The doctors have said that the dis - pies twice a day. Kaitlyn has the movement of her fingers and ease has affected me so far from the waist down. My that is pretty much it. She communicates with her eyes and is Grandma & Grandpa say I’m like a Shirley Temple. vocal without words that are familiar to the “regular” world. Kaitlyn uses a computer, clock communicator and has many switch toys. Kaitlyn is very smart and is doing very well in a home based school program. Kaitlyn has a big brother named Liam. Liam is very protective Dear SMA, of his sister. Liam is almost 9 years old and very busy. He has a d to help our am is very prou hard time playing with Kaitlyn because he has a small attention The Stars Te e are atthew Wallis. W span. They watch t.v. together, play puppets and fetch together. n and friend, M cousi tter from None the less he loves her very much and is very proud of her. time we get a le verjoyed each at o you to know th Kaitlyn enjoys her therapy tub she received from Make-a-Wish. would like for you all. We team. In the tub she can move her legs freely. It is something that she member to the ave added a new we h are praying is proud of. auren Bally. We Her name is L le to I just wanted to share with the SMA world our precious daugh - oney will be ab r small gifts of m that ou d others. ter. We love her so much and look forward to many more won - for Matthew an help find a cure derful, challenging, loving and special years with her. hope, Thanks, With ley Gordy and ith Brandy, Ash Hali Harapchuk Lydia Wallis, Fa Texas Lauren Bally of
40 Directions | Fall 2007 1-800-886-1762 LETTERS to FSMA allocated to stem cell research. I am in awe of our supporters and our volun - u have ar FSMA, st how much yo teers who have made this possible. As De let you know ju e her take the time to A the day befor always, I am in awe of our son, who I just wanted to with type II SM i was diagnosed d to be a time of d my family. Tor what is suppose continues to touch so many lives and helpe tating news for ure. Tori is day. Such devas ment for our fut make a difference in the fight against first birth pe or encourage perfect ctors had no ho ing that was so SMA. celebration. Do e up on someth d ow could we giv o find some kin We would like to honor the SMA fami - only child and h to the internet t our despair, I went e FSMA Con- ial to us? In my und out about th lies in South Florida who are instru - and spec es of SMA!!! I fo ome . I found Famili would find out s mental in making our fundraisers a of explanation that is where I , IL and decided success. In addition to making our con - ntion in Chicago ve s. Con- tribution in memory of our son Jacob s to my question the 2007 SMA answer found myself at Isaac Rappoport, we would like to also ri's diagnosis, I d encourage- weeks after To he love, hope, an make it in honor of Taylor Bowser, Jack Three thank you for t e were at a just want to say en we arrived, w Freedman, Zeke Lerner, Natalie Quin - vention. I my family. Wh e days provided me and r spending thre ment you have t to belong. Afte , tana, and in memory of Shelly Cahlon, g, or didn’t wan met in our lives we didn’t belon als we had ever Payton Freeman, Katie Gardner, Caitlyn place nderful individu octors e of the most wo roup of people. D Munson, Ryan Nolan, Shreeya Patel, with som to this special g ng of at we do belong eal understandi Drew Selogy, Alexander Tizzoli, Carl we realized th ement, and no r pe, no encourag ce, hope, and Vanderveen, Tyler Yunes, and Margaret ld give us no ho has given us pea cou amilies of SMA t the begin- Zayas. Their families have touched our s ahead of us. F ver, but it is jus what wa d that it isn’t o lives with their incredible support and e now understan friendship. W ning it will be. onderful begin ut you. truly helped to make our event a suc - g…and what a w would be witho nin know where we cess. Finally, we would also like to make our help. I don’t Thank you for y our donation in honor of Audrey Lewis, who has been an inspiration and a con - Love, ri’s Mother) Kirby, AR), (To stant support to us. Misty Partee (of We cannot possibly thank you enough Dear FSMA, for all that you do. Dear FSMA, Five years ago, Adi and I attended our Sincerely, We just wanted to thank everyone for first FSMA conference, here in Chicago, Shaina and Adi Rappoport & The everything. We really had a GREAT with a five month old Jacob in tow. He Jacob Isaac Rappoport Foundation time. It was so good to see all of our had been diagnosed only 6 weeks before extended family. We just wish we had the conference. We were greeted with Dear FSMA, more time with everyone. All of the open arms and hearts, and while we This year I attended my first FSMA doctors, guest speakers, and vendors asked ourselves how it was possible that Conference in Schaumburg. I was very were wonderful as always. We learn so we had become a part of this family, we impressed with what I experienced, all much with each conference we attend knew we had come to the right place. the way around. First, the Woodfield that really helps us. You have been so During the conference, a $100,000 Hyatt Regency was wonderful in helpful and kind to us and we truly donation was announced, and it was in accommodating the whole event and appreciate that. We are so thankful for that moment that I knew I wanted to be the special needs of the families. The all of your hard work and true dedica - involved in the fundraising efforts of facility was very easy to get around, even tion, with you all we know that a cure such an amazing organization. with the large number of special-needs will be found! Thank you all very much In our fourth year of fundraising, the people who attended. All the staff assist - for your passion to cure SMA! Someone Jacob Isaac Rappoport Foundation is ing were more than friendly and courte - asked a panel who their hero was and proud to present the enclosed contribu - ous and willing to help in any way. I why? I thought about that question and tion of $110,000 to Families of Spinal thank them for all they did in facilitat - came to the conclusion that FSMA was Muscular Atrophy. This brings our total ing our Conference. mine, because of your commitment to contribution to FSMA to $350,000 over I was also educated by all the families never give up until a cure is found. the past 4 years. As we agreed, $50,000 and the kids who I had the good fortu - Thank you very much!!! will be allocated to the type one clinical nate to meet or see while attending the Sincerely, trial; $50,000 will be allocated to the conference. The level of fun available to DeCode campaign; and $10,000 will be Scott, Candy, Brittany and continued over Brenden Carpenter
Directions | Fall 2007 41 LETTERS to FSMA www.curesma.org the families was to me, measured by all could or could not. I had to challenge r FSMA, the smiles and activity happening Dea rence the agencies and the heads of the pro - rst FSMA confe throughout the entire event. Some of attended my fi grams at the state level to get the chance I sessions were the families went home tired, I’m sure, week. All of the to try, but I was willing to go through last kers, doctors but the fun everyone was able to experi - nding. The spea that because I knew if for some reason I outsta ome! It ence was worth a few moments of being teers were awes were able to achieve what I wanted, then and volun nd SMA me to understa tired. Thank you to the parents and sib - really helped how there was a chance for others like me for h other families lings, and everyone who was there and discuss wit their future to drive as well. th this disease. related to SMA, the organizers of this ryone copes wi eve put- Now, the abilities I have because I am year’s conference, and all who attended an excellent job Your office did capable of driving are countless. The made it an enormous success. It was all e conference! ting together th independence I have is appreciated about letting everyone get together and beyond just the mobility. It made it pos - Thanks, relax so they could enjoy themselves for ec, Houston, TX sible for me to live by myself. Even Laurie Jachimi a weekend with other families coming though I may not be able to drive for - from the same position. The kids all ever, I am living with what makes my seemed to have had a very good time. world now. Accomplishing that one Believe me, they all will carry those live in my own home, with my four cats dream has opened my world up huge. I great memories with them forever. and my dog. I am newly divorced after want you to understand, as long as there The Conference was a huge success almost 25 years of marriage. I had to is hope, there is a chance to achieve any - from where I sat. I too, have SMA, type struggle to maintain my independence thing. There is a chance for some of us 2. I am 46 years old and this was the through the divorce and since then, but to obtain the ability to drive, so with first time I was privileged to see others I feel very blessed to now be able to suc - that hope, it also means there is hope with SMA and their families to this cessfully live independently. I have to for a cure for SMA as well. Never give extent. I loved the information the attribute my success to wonderful, lov - up hope. researchers had to tell us. I am very ing people around me helping me. I do Kelly Miller pleased and excited by their progress. I have my driver’s license and I did drive thought it was extremely touching to to the conference on my own in my get the families with SMA and the own van. I was fortunate to be given the researchers together in such a happy determination to try to do whatever I CONGRATULATIONS and fun way. I also, had a lot of respect can. Not all of us have all the same abili - and admiration for the researchers ties, but we can have the idea and the I because they care enough to find a cure. desire to try to do what we want to do. I Congratulations to Laurie, Mark and Murphy Potter on the I feel fortunate to have attended the do want everyone to know the possibili - ties are there in any area, to accomplish birth of their son / brother workshops with such experts there to Anders Matthew Charles Potter educate us. I thank the speakers who more then we think we can sometimes. I fought for myself to be given just the born on September 11th. held the workshops. All that we were I able to learn or witness from those who chance to try to get my driver’s license. Congratulations to Renee, Sam hosted the workshops was of incredible Almost ten years ago now, I did finally and Sami Abraham on the birth value, from the adults with SMA, as well take the time to accomplish that goal. It of their son/brother Cole Steven as from the younger people, and those was a huge challenge and I really had to Abraham born on July 10th. too, who did not have SMA. I have a lot push myself to keep trying until I was I Congratulations to Melissa of hope for the future because of the successful. The technology is there to and James Milinovich on the informative workshops. I can appreci - accommodate some of our limitations, birth of their daughter Claudia ate, regardless of the limitations some when and if we do not accept the idea Milinovich born on April 5th. of us may have, we are not limited just that we have to do without. There are I Congratulations to Mary Ellen because we do live with SMA. those of us who do not want to drive, or Barrelle, of Rowayton, CT. She cannot because our limitations may be I felt ashamed to not have spoken up at was awarded 1 of only 27 grants overwhelming. I did not get my driver’s the time, and let people know of the from the Prudential CARES license when I was young because I was possibilities for their future in driving. Volunteer Grant Program. told at the time it would have been So many of the people there have The Prudential Foundation impossible. At that time it was impossi - accomplished so much in their lives that donated $1,000 to Families of ble. But as I grew older, and older, I I was in awe of them. For me to speak SMA in honor of Mary Ellen’s knew I just had to be given the chance up would have been rude. My only hard work, on behalf of the to try, even just to show myself if I accomplishment is my independence. I FSMA CT Chapter.
42 Directions | Fall 2007 1-800-886-1762 EDUCATION Emergency Preparedness for Children With Special Health Care Needs
ABSTRACT. Children with special mergency care of children with by a frequent lack of accurate timely health care needs are those who have, or special health care needs is fre - information about the children’s special are at risk for, chronic physical, develop - Equently complicated by a lack of a needs and particular histories. mental, behavioral, or emotional condi - concise summary of their medical con - To address this identified need for the tions and who also require health and dition, precautions needed, and special group of children with special needs, related services of a type or amount not management plans. This policy state - creation of a passport plan or emer - ment introduces a standardized infor - usually required by typically developing gency medical information set has been mation form that can be used to advocated by the US DHHS-MCHB- children. Formulation of an emergency prepare the caregivers and health care care plan has been advocated by the NHTSA EMSC program through its system for emergencies of children with Children With Special Health Care Emergency Medical Services for Chil - special health care needs. Emergency Needs Task Force Report of January dren (EMSC) program through its data sets, summaries, or “passports” 1997. The report notes: Children With Special Heath Care have been used in several of the US “If the child is at risk for future medical Needs Task Force. Essential components Department of Health and Human emergencies, the child and family Services, Maternal and Child Health of a program of providing care plans should participate in developing a writ - Bureau, National Highway Traffic Safety include use of a standardized form, a ten emergency care plan. Copies of this Administration, Emergency Medical method of identifying at-risk children, plan should be kept in easily accessible Services for Children (US DHHS- completion of a data set by the child’s places at the child’s home and any other MCHB-NHTSA EMSC) demonstration physicians and other health care profes - location where the child regularly grant projects. Use of such emergency sionals, education of families, other spends time. The plan should include data has been advocated by the EMSC provisions for any special training that caregivers, and health care professionals program through its Children With will be needed by emergency medical in use of the emergency plan, regular Special Health Care Needs Task Force. updates of the information, 24-hour personnel, family members, or other This statement describes essential com - persons who may be called on to pro - access to the information by authorized ponents of an emergency information emergency health care professionals, vide emergency care for the child.”2 To program. Figures 1 and 2 show a blank date, the efficacy of this method in and maintenance of patient confiden - form and a sample form. Implementa - improving care for children with special tiality. Pediatrics 1999;104(4). URL: tion of this program by a pediatrician needs has not been studied. However, http://www.pediatrics.org/cgi/content/f or other health care professional or as several US DHHS-MCHBNHTSA ull/104/4/e53; children, special health part of a comprehensive EMSC pro - EMSC projects have used an emergency care needs, emergency preparedness. gram in a state will improve the ability information set in populations with to care for children with special needs. special needs. Children with special health care needs Projects in New Mexico, Wisconsin, ABBREVIATIONS. are those who have or are at risk for Ohio, and the Ohio–Kentucky–West chronic physical, developmental, behav - US DHHS-MCHB-NHTSA EMSC, Virginia region have used wallet cards ioral, or emotional conditions and who or 1-page summaries that are given to US Department of Health and also require health and related services Human Services, Maternal and parents.3 The wallet cards have separate of a type or amount not usually pages for demographics, diagnoses, Child Health Bureau, National required by children.1 Children with Highway Traffic Safety Administra - conditions, and medications and can be special health care needs frequently updated by exchanging single cards. tion, Emergency Medical Services require emergency care for acute life- Currently in West Virginia, a single page for Children; EMS, emergency threatening complications that are (front and back) summary is being medical services; AAP, American unique to their chronic conditions. Academy of Pediatrics. tested throughout the West Virginia Emergency hospital and prehospital MCHB Children With Special Health care is believed to be negatively affected
Directions | Fall 2007 43 www.curesma.org
Care Needs Division.4 Adjuncts to the ered a part of the overall plan of service 2. The summary, or emergency medical program include window stickers iden - advocated by the American Academy of data set, should be updated regularly tifying the homes of children with spe - Pediatrics’ (AAP) Committee on Chil - and maintained in an accessible and cial needs and linkage to an emergency dren With Disabilities.6 In addition, usable format. telephone number such as 911, which completion of the summary will fulfill 3. Parents, other caregivers, and health will alert emergency medical service the need for a medical history for any care professionals should be educated (EMS) professionals to look in the child wanting to participate in child to optimize use of the summary. Par - refrigerator for a vial containing the care, school, day camp, or resident ents and other caregivers should be summary. camp.7 Implementation of this pro - encouraged to take the summary with Sherman and Capen5 recently gram through a pediatrician or other them for all health care encounters. described a program to streamline and health care professional, in a child care facility, through a school system,8 or as 4. Mechanisms to quickly identify chil - standardize access to care for asthmatic dren with special health care needs in children with a history of life-threat - part of a comprehensive EMSC pro - gram will improve the ability to care an emergency should be established eningevents. Termed the Red Alert Pro - and should be available to local EMS gram, the parents, health care for these children. and hospital personnel. professionals, EMS providers, schools, 5. A universally accepted, standardized and emergency physicians were edu - RECOMMENDATIONS cated about the need for early access to form should be used for summaries. aggressive acute treatment of the child’s The AAP offers the following recom - Figures 1 and 2 show a suggested asthma, and the parents were given mendations: form entitled “Emergency Informa - written documentation of the history of 1. A brief, comprehensive summary of tion Form for Children With Special severe asthma. information important for hospital Health Care Needs.” Essential data elements include the patient’s name, The emergency information set or pass - or prehospital emergency manage - ment of a child with special health birth date, date of last summary port should result in improvement in update, weight, guardian’s name, the emergency care of children with care needs should be formulated by the child’s caregivers, health care pro - emergency contacts, pediatricians special health care needs. The emer - and other health care professionals, gency information set should be consid - fessionals, and all subspecialty providers. primary emergency department,
44 Directions | Fall 2007 Emergency Preparedness for Children With Special Health Care Needs (cont.)
1-800-886-1762 Committee on Pediatric Emergency Medicine, 1998–1999
major chronic illnesses and disabilities, baseline Robert A. Wiebe, MD, Chairperson physical and mental status, baseline vital signs and Barbara A. Barlow, MD laboratory studies, immunization history, medica - Ronald A. Furnival, MD tions, medication allergies, food allergies, and Barry W. Heath, MD advanced directives.* The AAP and its chapters Steven E. Krug, MD should encourage local adoption of the American Karin A. McCloskey, MD College of Emergency Physicians/American Acad - Lee A. Pyles, MD emy of Pediatrics form. Deborah Mulligan-Smith, MD 6. Rapid 24-hour access to the summary should be Timothy S. Yeh, MD ensured. Copies should be accessible at home, Liaison Representatives school, during transportation, and in the emer - Richard M. Cantor, MD gency department in addition to a copy in the American College of Emergency Physicians records of treating physicians. Linkage to an emer - Dennis W. Vane, MD gency telephone number such as a 911 dispatch or some other method of assuring rapid access is American College of Surgeons desirable. Especially important is identification of Jean Athey, PhD the most appropriate EMS squad to be called in Maternal and Child Health Bureau areas without a 911 dispatch. Schools and child David Markenson, MD care facilities should be encouraged to include the National Association of EMS Physicians emergency summary as part of a child’s individual AAP Section Liaisons health plan. Joseph P. Cravero, MD 7. Confidentiality of the form should be carefully Section on Anesthesiology maintained. Parental permission to establish the M. Douglas Baker, MD emergency information form and distribute it to Section on Emergency Medicine appropriate agencies should be obtained and kept Michele Moss, MD on file with the originator of the form or at a cen - Section on Critical Care tral repository. Dennis W. Vane, MD Section on Surgery Consultant Michael J. Gerardi, MD
REFERENCES 5. Sherman JM, Capen CL. The Red Alert Program for life- 1. McPherson M, Arango P, Fox H, et al. A new definition of threatening asthma. Pediatrics. 1997;100:187–191 children with special health care needs. Pediatrics. 6. American Academy of Pediatrics, Committee on Children 1998;102:137–140 With Disabilities. Pediatric services for infants and children 2. Emergency Medical Services for Children, National Task with special health care needs. Pediatrics. 1993;92:163–165 Force on Children With Special Health Care Needs. EMS 7. American Academy of Pediatrics, Committee on School for children: recommendations for coordinating care for Health. Medical guidelines for day camps and residential children with special health care needs. Ann Emerg Med. camps. Pediatrics. 1991;87: 117–119 1997;30:274–280 8. American Academy of Pediatrics, Committee on School 3. National Center for Education in Maternal and Child Health. Guidelines for urgent care in school. Pediatrics. Health. Emergency Medical Services for Children. Abstracts 1990;86:999–1000 of Active Projects FY 1994. Arlington, VA: National Center 9. Sacchetti A, Gerardi M, Barkin R, et al. Emergency data set for Education in Maternal and Child Health; 1994 for children with special needs. Ann Emerg Med. 4. Emergency Medical Services for Children: Abstracts of 1996;28:324–327 Active Projects FY 1997. Torrance, CA: National Emergency Medical Services for Children Resource Alliance; 1997
Reproduced with this permission from Pediatrics, Volume 104, page E53 Copyright©1999 By the AAP.
* Most states have a standard advanced directive form, which is required for EMS to honor the advanced directive to withhold emergency lifesaving / measures; however, the emergency data set or summary can identify a need to look for the standard form. Directions | Fall 2007 45 EDUCATION www.curesma.org Preparing for a Hospital Stay By Julie Lino
Look and listen to your child Hospitalization Tips medical team. Make a pocket folder NOW while they are healthy. The following tips are for a hospitaliza - or binder and fill it with reference information. Have this file readily Listen to your child and learn his/her tion. They are the compiled opinions of 1. accessible in case of an emergency. healthy breath sounds. You can pur - SMA parents based on their child’s hos - You may be able to review the infor - chase an inexpensive stethoscope at pitalizations and experiences. The fol - mation while waiting in the ER any drug store or uniform shop. lowing are examples of what other SMA and/or once you get settled in a Learn the different chambers/lobes of parents have done and might help you. room. the lung. This not only will help you No doubt about it, a hospitalization is hear a difference when they are sick, stressful. Keep the door of communica - BINDER CONTENTS: a) Protocol for but will help your child become tion open with your medical team. your child and “Do Not Resuscitate” familiar with the medical devices. Let 1. Know and be okay with the fact that order (if you want or have one) b) Pho - them be part of their own respiratory most people, even those in the med - tocopied articles printed from the treatment by letting them listen to ical and respiratory professions, know www.FSMA.org, www.doctorbach.com, you, brother, sister, pets, etc. little or nothing about Spinal Muscu - web sites, articles from FSMA DIREC - TIONS, materials from the FSMA con - Pulse Oximetry —Health insurance lar Atrophy. It may be your “job” to 2. ference, and pertinent emails. If there and Medicaid often covers this piece educate the medical team caring for are articles and procedures you’d like of equipment. Periodically check your child. This may likely apply your medical team to adhere to, provide their oxygen saturation (SA0 ) and when referring to SMA medical pro - copies for them. Also make sure copies heart rate. Check it while sleeping tocols from Dr. Swoboda, Dr. of these get put into your child’s chart. and awake. Learning your child’s Schroth, Dr. Bach, and techniques / Every nurse and doctor has access to it. healthy SATs with help when they procedures that are discussed in SMA (You may also have to refer to them); c) become ill. These SATs change due to literature or during the FSMA confer - A notebook and pen to journal, docu - a variety of normal activities, but also ence breakout sessions. ment your emotions, conversations can be a red flag to an underlying You know your child best. Especially his with medical team, procedures, all med - infection—the heart pumps harder or her routine and what they are like ications and purpose administered, when trying to maintain a ‘normal’ when “healthy” anger, everything! This is not only a O2 level. Go in with the possibility you might great stress release, but also a valuable 3. Observation —If you don’t already have to make a decision regarding ven - reference tool for exhausting days later do this now, pay attention to his/her tilation: Oxygen, BiPap, IPPV, vest, intu - and/or the next hospitalization. Do not breaths. What is your child like when bation and tracheotomy. Explore these be afraid to document in front of your ‘healthy’? Discuss ‘labored breathing’ options now and investigate these pro - medical team—it is okay to educate with your doctors. In younger chil - cedures and possible outcomes so you yourself and keep track of events; and dren, if they develop a collapsed lobe, are aware of them. d) Telephone numbers and email you can sometimes visually see a dif - Try to keep calm and be friendly…there addresses of SMA families you’d like to ference in their chest—perhaps a dip will be situations of conflict with your connect with and doctors with whom under his/her armpit or are his/her medical team. You can apologize later you want to consult with. nipples parallel? for tense moments, but know that Every SMA child is different. You will be everyone is trying to do the best for the best resource for your child’s med - your child, including you! ical team. 2. Prepare now for a hospital stay. One can never be emotionally prepared This is an abbreviated version of this for a stay, but being prepared with article. The complete article can be materials will assist you and your found online at www.curesma.org.
46 Directions | Fall 2007 1-800-886-1762 FIRST person
THE JENNIFER TRUST RECEIVED AN EMAIL FROM A YOUNG LADY IN POLAND WHO HAS SMA TYPE III. S HE ’S AN ACADEMIC , VERY SPORTY , AND A SUCCESSFUL MODEL . B UT IF SHE IS ONE OTHER THING , SHE IS AN INSPIRATION ! HERE ’S HER STORY , IN HER OWN WORDS AS KINDLY TRANSLATED BY SANJA UDALL FROM BIDFORD ON AVON ENGLAND :
y name is Agata Jablonska. I am swimming galas across my country. I wish them to have courage and to a 25-year-old model from Wro - Swimming gives me the feeling of inde - achieve a success in what they are good at. Mclaw Poland. I have a M.A. in pendence. Also I am treating it as a way of Through my actions, as well as the belief philosophy, I am a member of swimming fighting this debilitating condition. in what I do, I have realized that the club for disabled people called “Start” and I have been modelling from the age of wheelchair does not have to be treated I am in a wheelchair. seventeen. My first professional engage - negatively – rather contrary - it can My personal aim in life is to eliminate ment achieved great success – I got a title become an important tool in your life. barriers and stereotypes in society. of “The Best Girl in 1998” for the Wro - My greatest satisfaction is the realisation I have Spinal Muscular Atrophy. It is an claw newspapers. That was the crucial that the success I have achieved encour - incurable condition, manifesting itself in moment in my career as a photo model. ages other people. I am making society a substantial deterioration of my whole My best characteristics are my facial fea - overcome stereotypes. In my opinion body. I am a typical example of this, but I tures, my face is very expressive what being disabled is all in people’s minds, not do not want to give up my dreams secured my win in Polish Internet compe - in the limitations resulting from the mal - because of my physical limitations. I strive tition “Regular Features” in 2006. function of the body. to show how to overcome difficulties and At the present I am modelling for the best I work every day in a Capital Group Impel live a fulfilling life achieving one success Polish model agency. I have had lot of S.A. dealing with Human Resource prob - after another. photo sessions, modelled clothes, been on lems. I am using my knowledge and my I have completed studies in banking and television programs and had interviews in skills, which I continuously endeavour to finance as well as philosophy. The studies magazines. I am a person that people eas - perfect. I am aware that I work in a firm have awakened in me the wish, and moti - ily recognize and I treat my job very pro - that does not discriminate against people vation, to get to know people. In the near fessionally. for their disability, but appreciates their future I am planning to devote myself to I am not sitting between four walls. I am professionalism. Work gives me self- moral values of disabled people. I am a striving to integrate and succeed in the awareness as well as motivation to further person who endlessly tries to show others world. At the moment I am preparing development. that disability can be an opportunity for myself for an international competition I always wish to show that it is worth success and a strong reason for big for modelling in a wheelchair “Beauties In making an effort to achieve your goals. achievements. Motion International 2007” which will With best regards to you all take place in Hanover Germany – the I am also successful in sports. For several Agata Jablonska years I have belonged to the Wroclaw website address is -http://www.beautiesin - motion2007.com/ I wish to show that You can see Agata’s photo portfolio at Swimming Club “Start”. I have won http://www.jablonska.org/ medals many times. people in wheelchairs are as beautiful and sexy, that you can fulfil your dreams, con - Thank you Agata for your inspirational article My main swimming style is backstroke. and we wish you all the best with your various stantly overcoming limitations. By my My ambition is to represent my club at careers. Thank you as well to the Jennifer Trust example I want to motivate other women. in the U.K. for sharing this story with FSMA.
Directions | Fall 2007 47 Families of SMA PO Box 196 Non-Profit Organization Libertyville, IL 60048-0196 U.S. P ostage 1-800-886-1762 PAID Permit No. 154 Address Service Requested Highland Park , IL 60035
NATIONAL conference www.curesma.org June 19-22, 2008 | BOSTON PARK PLAZA H OTEL – Boston, MA 2008 FSMA Family ye! Hear ye! & Professional Conference Hear ye! Hear Conference agenda includes: • Pre-registration Meet & Greet • PJ Party Movie night for kids and parents • 2 days of Workshops • Kids’ program • Continental Breakfast before Opening Session • Annual Full Banquet Dinner & Silent Auction • Luncheon –adults only – Research Q&A • Annual Kids Carnival, a favorite with the kids
oin us for the 2008 Families and The hotel is only 3 miles from Logan The weekend will be filled with net - Professional FSMA Conference in International Airport. Within walking working opportunities with other fami - JBoston, Massachusetts. One if by distance of the hotel are restaurants and lies, and opportunities to interact with land, two if by sea, come discover infamous Newbury Street with plenty researchers and get first hand updates Boston’s history. The Boston Park Plaza of shopping. Take in a Red Sox game or from the researchers. Hotel is in the heart of the city and will explore the Freedom Trail. No visit to For more information including hotel host the 2008 conference. Boston is easy Boston would be complete without a and reservation numbers go to the to get around, either on foot or by the stroll through the Boston Common and FSMA website. user-friendly public transportation Public Garden and a ride on the famous system, called the T. swan boats. FSMA has been hosting this conference for over 20 years.
48 Directions | Fall 2007