Volume 13, Issue 1 Winter, 2010

NON-PROFIT U.S. POSTAGE PAID SPASTIC PARAPLEGIA FOUNDATION

7700 Leesburg Pike, Ste 123 Falls Church, VA 22043

TeamWalkTeamWalk summariessummaries beginbegin onon PagePage 77

Sarah and Ronnie Face Off in SAWCAR Race Reserve your room at the LAX Hilton Today!!! Houston TeamWalk LA Nov 21 - Entire Group

Mark and Fred 2009 OKTW

The Autumn in Carolina, Gang’s All Here

SPFoundation National Conference - May 21-23, 2010 - Los Angeles, CA. Socializing at Call Loretta Baker at the LAX Hilton Hotel (310) 410-6143 Autumn in Carolina 2009 Oklahoma TeamWalk Editor’s Note: I welcome all Letters to the Editor, please e-mail me [email protected]. I will always print assistant professor of neurology. “That could make it very phenomenon may lead to promising alternative approaches your letters in the next issue. helpful for our efforts to better understand and identify to the gene therapies that are now a focus of study. treatments for this terrible disorder.” He further states The research was just published in Neurobiology of Disease, President’s Letter “TDP-43 is only the second gene to be linked to an a professional journal, by researchers from the Instituto from Mike Podanoffsky inherited form of ALS that appears clinically identical to Clemente Estable and the University of the Republic in sporadic ALS, and it’s very promising that this similarity Volume 13, Issue 1 - Winter 2010 Montevideo, Uruguay, and at Oregon State University. The The Tipping Point and National Conference 2010 allows the symptoms of sporadic ALS to be accurately research has been supported by the National Institutes of The Spastic Paraplegia Foundation Inc. (SPF) is a modeled in mice.” Health. “We know that environmental exposure to lead is n this issue you will read about national, not-for-profit, voluntary organization. It is The new mouse model may also provide an important tool a risk factor for ALS,” said Joseph Beckman, holder of the terrific plans we have for the I the only organization in the Americas dedicated for screening new drugs, according to Baloh. Scientists the Ava Helen Pauling Chair in the Linus Pauling Institute National Conference 2010. It will be to Primary Lateral Sclerosis (PLS) and Hereditary already have another mouse model of ALS with a mutation and director of the Environmental Health Sciences Center held at the LAX (Airport) Hilton in Spastic Paraplegia (HSP). in SOD1, the first gene to be linked to an inherited form at OSU. “That’s why it’s so surprising that, according Los Angeles, May 21 – 23, 2010. The of ALS with typical symptoms, but, according to Baloh, it to studies done with laboratory animals, higher levels conference will be focused more on Synapse Editors hasn’t always been the best tool for predicting if treatments of lead appear to significantly reduce motor neuron loss will work in humans. “If we use the two models together to and progression of ALS.” The levels of lead that were you and less on research, although Thurza Campbell ...... Senior Editor all presentations are important. I test potential treatments, though, that might provide us with therapeutic in the mice have toxic risk in adult humans, Betsy Baquet ...... Medical Research a much finer screen,” says Baloh. “This could help relieve the researchers pointed out. However, as more is learned look forward to meeting each and Sarah Roberts-Witt ...... Events every one of you there. some frustration in the field, because there are a number of about how lead is affecting ALS, alternatives to lead might new drugs ready to be tested in humans, and we urgently be found to accomplish the same goal. Published three times a year for the HSP/PLS This past summer I read The Tipping Point: How Little need ways to determine which should be tried first.” community Available online at www.sp-foundation.org SOURCE: www.eurekalert.org/pub_releases/2009-11/osu-hmp113009.php Things Can Make a Big Difference (by Malcolm Gladwell). SOURCE: www.eurekalert.org/pub_releases/2009-10/wuso-seb100909.php The book has been out for some time now. It describes how Corporate Address: Tiny molecule slows progression of Lou Gehrig’s a small effort can create a ripple effect that turns a tide. One Spastic Paraplegia Foundation Compound shows potential for slowing disease in mice example is how neighborhoods improve. It starts with a few 212 Farm Rd. Researchers at UT Southwestern Medical Center have found people who care. They set an example and others follow. At progression of ALS Sherborn, MA 01770-1622 that a molecule produced naturally by muscles in response some point the idea is so contagious that it is unstoppable. A chemical cousin of a drug currently used to treat sepsis to nerve damage can reduce symptoms and prolong life in Please Send Donations to: dramatically slows the progression of ALS in SOD1 mice. a mouse model of amyotrophic lateral sclerosis (ALS). The Tipping Point reminds me of the ripple that the Spastic In a paper published online Oct. 19 in the Journal of Spastic Paraplegia Foundation Paraplegia Foundation has started. A small research project Clinical Investigation, scientists studied the use of a form “We believe we can apply this research toward drug here, some ideas that need more work, a lesson learned here P.O. Box 1208 of an enzyme known as activated protein C, or APC, to development,” said Dr. Eric Olson, chairman of molecular and there, all set the stage for future research. Fortson, GA 31808 slow the cell death that occurs in ALS. They were able to biology at UT Southwestern and senior author of the study, extend the lifespan of mice with an aggressive form of the which appears in the Dec. 11 issue of Science. Please direct correspondence to: In The Third Wave and in Future Shock (by Alvin Toffler), disease significantly, by about 25 percent. The compound Spastic Paraplegia Foundation As muscles are damaged in ALS, they can “re-innervate” a futurist thinker of some note, the pace of new discoveries also extended the length of time that the mice were able themselves by prompting healthy nerves to send new 7700 Leesburg Pike, Ste 123 grows, accelerating with each new innovation. This can be to function well despite showing some symptoms of the branches their way. The molecule responsible for this is seen everywhere you look. The work of one scientist sets Falls Church, VA 22043 disease, and it reduced the pace of muscle wasting that is microRNA-206 (miR-206), but can only work for so long. the foundation for many scientists to follow, and their work (877) 773-4483 a hallmark of ALS. “While miR-206 initially prompts nearby surviving nerves sets the foundation for the scientists that follow them. [email protected] While the investigators say that more research must be done to send new branches to the muscles, it only delays the www.sp-foundation.org As this issue of Synapse goes to press it is December. You’ll before the enzyme is tested in people with the disease, they inevitable,” Dr. Olson said. “Our findings correlate with the observation in ALS patients that the disease is nearly read it in mid to late January. When you do, it is a great time SPF Board of Directors: are encouraged that the work involves a compound that has already been proven to be safe and is currently given to asymptomatic until a large fraction of motor neurons to reflect on these examples. The role of the SPF is to keep Mike Podanoffsky, President patients via a common injection for another condition. The has died, at which point the few remaining ones can’t the progress of research growing. Linda Gentner, Vice President team hopes to test a treatment in patients within five years. compensate sufficiently. These results provide a new Frank Davis, Secretary perspective on the mechanisms of ALS,” he said. “MiR-206 Want to change the SPF? Want it to serve you better? We’ll SOURCE: www.eurekalert.org/pub_releases/2009-10/uorm-csp101509.php David Lewis, Treasurer seems to sense nerve injury and promote regeneration.” publish the best ideas next issue. Send me email at ideas@ Members: Larry Asbury, Corey Braastad, PhD, sp-foundation.org. Kris Brocchini, Jim Campbell, Jean Chambers, RN, “Because miR-206 only exists in skeletal muscle, a drug Heavy metal paradox could point toward new based on it might not affect other tissues. That limits its For links mentioned in this publication, go to http://sp- Malin Dollinger, M.D., Ashton Hecker, Jim Sheorn, Mark Weber, Esq., therapy for Lou Gehrig’s disease risk of side effects and is a key part of its appeal as a foundation.org/synapse/1209. New discoveries have been made about how an elevated potential therapy.” SPF Medical Advisor: level of lead, which is a neurotoxic heavy metal, can slow TABLe oF CoNTeNTS PAgeS In collaboration with a company he co-founded, called the progression of ALS—findings that could point the way National Conference Roundup ...... 3-5 John K. Fink, M.D., University of Michigan miRagen Therapeutics, Dr. Olson is developing potential to a new type of therapy. SP Foundation News ...... 6 Disclaimer: The Spastic Paraplegia Foundation does not endorse drugs based on miR-206. Event Reports ...... 7-8 products, services or manufacturers. Those that are mentioned in The results surprised researchers, since lead is also a known SOURCE: www.eurekalert.org/pub_releases/2009-12/usmc-tms120309.php Living with HSP/PLS ...... 9-12 Synapse are included for your information. The SPF assumes no risk factor for ALS. This paradox is still not fully understood, liability whatsoever for the use or contents of any product or service and at this point would not form the basis for a therapy, as Caregiving ...... 12 mentioned in the newsletter. Medical Reports ...... 13-15 lead is toxic for the nervous system. But scientists say the 2 15 more at higher doses, and at the highest dose, there was a Smoking raises risk of ALS trend toward survival benefit. The drug was found to be A new review of the medical literature confirms that National Conference Roundup SCHEDULE ~ SPF 2010 NATIONAL CONFERENCE safe and well-tolerated. Knopp is currently preparing for a smoking significantly raises the risk of developing ALS. phase 3 trial. A new analysis says that smoking, already suspected of fridAy, MAy 21, 2010 A report given at the symposium about trials of the being a risk factor for amyotrophic lateral sclerosis (ALS), experimental compound SB509 suggests the substance is definitely is one. Carmel Armon, professor of neurology at 3:00-5:00pm – Registration safe and well tolerated and also may have a positive effect Tufts University School of Medicine in Boston and chief of 5:00-5:45pm – Welcome cocktail reception cash bar on function in people with ALS. Approximately 30 percent neurology at Baystate Medical Center in Springfield, Mass., and simple hors d’oeuvres of people treated with the drug had improved manual muscle analyzed the medical literature published on smoking and 5:45-6:00pm – Welcome and Introductions by Craig function and showed improvement on the ALS Functional ALS between 2003 and April 2009. He initially identified 28 Rating Scale. Jeffrey Rothstein, who directs the MDA/ALS studies, only two of which were considered reliable enough Gentner Center at Johns Hopkins University in Baltimore, said the to be included in the final results, which were announced 6:00-7:00pm – Dinner, including dessert ability to maintain muscle strength or delay its deterioration Nov. 17, 2009, in the journal Neurology. In the two studies 7:00-7:15pm – Break could have a significant impact on quality of life for people announced, smokers increased their risk of developing with ALS. Sangamo Biosciences, located in Richmond, CA, ALS by 1.6 to 1.89 times the average. Also, the longer an 7:15-8:15pm – “Welcome to the Convention You’d is the drug developer, and is preparing for a phase 3 trial. individual smokes, the more likely they are to develop the Rather Not Qualify For” by Malin Dollinger and Craig SOURCE: http://quest.mda.org/news/two-als-drugs-show-early-promise disease. Those who smoked more than 33 years had more Gentner than a two-fold increased risk of getting ALS compared with 8:15pm – Instructions for Saturday “Toxic desert dust” Linked to ALS in Gulf War Vets those who never smoked. 8:15pm – Meeting rooms available for meet/greet/ In 2001, a government-funded study showed that military SOURCE: www.mda.org/publications/Quest/extra/nov09/stop-smoking.html personnel serving in the 1990-1991 Gulf War were nearly social time. You may take this opportunity to meet twice as likely to have developed ALS as were military first Human Embryonic Stem Cell Lines Approved new people, to discuss challenges and victories, and personnel who had not served in that war. New findings to get help with day-to-day living suggest a possible link between dust-dwelling bacterial for use under New NiH Guidelines toxins and an elevated incidence of ALS in Gulf War NIH Director Francis S. Collins, M.D., Ph.D., announced on veterans. The study blames cyanobacteria, microorganisms December 2 the approval of the first 13 human embryonic SATurdAy, MAy 22, 2010 stem cell (hESC) lines for use in NIH-funded research that live in desert sands and which can be inhaled when 8:00-9:00am – Registration Desk Open they’re kicked up in dust, such as when a convoy of military under the NIH Guidelines for Human Stem Cell Research vehicles rumbles by. Cyanobacteria are common throughout adopted in July 2009. Dr. Collins said. “In accordance 9:00am – Welcome by Craig Gentner the world in salt water, fresh water and soil. The new findings with the guidelines, these stem cell lines were derived from 9:15-10:15am – Keynote Address by Gary Karp “Life embryos that were donated under ethically sound informed generally support the theory that ALS may be caused by a on Wheels” combination of genetic predisposition and environmental consent processes. More lines are under review now, and we anticipate continuing to expand this list of responsibly 10:15-11:00am – “Genetics and HSP/PLS Testing” 5:00pm – Entire group gathers for closing remarks by exposures. derived lines eligible for NIH funding.” talk by Dr. Corey Braastad, Athena Diagnostics and Craig Gentner SOURCE: http://quest.mda.org/news/als-research-poison-dirt More than 30 NIH grants funded in the 2009 fiscal year SPF Board Member Dinner on your own – (There are 3 restaurants in the totaling more than $20 million proposed to use hESCs. 11:00-11:15am – Break After a two-year review, the fdA approves This group of grants includes research using hESCs for hotel and others nearby.) reopening a clinical trial of the experimental the therapeutic regeneration of diseased or damaged heart 11:15am-12:00pm – John Fink, M.D. “Current 7:00pm – Meeting rooms available for meet/greet/ compound arimoclomol. muscle cells, developing systems for the production of research and understanding of HSP and PLS--What’s social time. A clinical trial of an experimental drug for ALS -- halted neural stem cells and different types of neurons from hESCs New and Exciting” almost two years ago due to safety concerns –- has been in culture, and developing a cell culture system for the large 12:00-1:30pm – Lunch Exhibitors meet and greet SuNdAy, MAy 23, 2010 9:00-11:00am given the green light to continue with a revised protocol, scale production and self-renewal of hESCs. says CytRx Corp. of Los Angeles, the drug’s manufacturer. 1:30-2:30pm – “Get Fit Where You Sit®” Talk and 7:30am – State Ambassadors breakfast meeting led SOURCE: www.nih.gov/news/health/dec2009/od-02.htm The U.S. Food and Drug Administration placed a hold on Demonstration of Chair Yoga. by Linda Gentner the phase 2b trial of arimoclomol in January 2008, saying it 2:30-3:00pm – “SPF Research Grants, Funding, and 9:00am – Greeting by Craig and outline of today’s wanted to see more toxicity data from previously completed Scientists encouraged by new mouse model’s Our Scientific Review Process ~ How Contributions schedule animal studies. CytRx announced on Dec. 2, 2009, that it similarities to human ALS had received FDA permission to continue human testing. St. Louis, Oct. 9, 2009 — A new mouse model of ALS Will Become the Cure” by Mark Weber, Esq. SPF 9:15-10:00am – Simultaneous Breakout Sessions Board Member The new trial is not yet officially open, but it soon will closely resembles humans with the paralyzing disorder,  Stress Relief by Acupressure by Dr. Lenore begin recruiting participants. Arimoclomol represents a researchers at Washington University School of Medicine 3:00-3:15pm – Break in St. Louis report. The new genetically engineered mouse Dollinger new strategy in ALS — enhancement of molecules called 3:15-4:00pm – “Adaptation to Disability” by Gary “chaperones,” which help regulate cellular repair. According has a mutation in the gene for a protein called TDP-43.  Caregivers’ Time by Jim Campbell Karp to CytRx, arimoclomol can detect proteins that are misfolded Researchers at the University of Pennsylvania linked TDP-  Maximizing Your Abilities and potentially toxic and refold them into their correct, 43 to inherited forms of ALS in 2006. Like humans with 4:00-4:45pm – Simultaneous Breakout Sessions ALS, the mouse develops progressive paralysis; loses 10:00-10:45am – “Physical Therapy to Get You Moving” nontoxic shapes. A different phase 2-3 study of arimoclomol  Stress Relief by Acupressure by Dr. Lenore muscle mass and specific types of motor neurons, and dies 10:45-11:00am – Closing Remarks by Craig Gentner already is underway, focusing on the SOD1-related form of Dollinger familial ALS. It was not affected by the halting of the phase of the disorder. 11:00-11:30am – Check Out 2b arimoclomol trial in ALS. “As far as we know, this is the first mouse model that  Caregivers’ Time by Jim Campbell recapitulates ‘typical’ ALS to be produced in more than 11:00am-12:30pm – Lunch on your own SOURCE: http://quest.mda.org/news/als-drug-trial-restarted  Maximizing Your Abilities a decade,” says senior author Robert Baloh, M.D., Ph.D., 1:00pm – Start of bus tour for those signed up for tours 14 3 Focus on Fundraising

Job Hunting with a disability (cont.) Caregiving Saturday 1:30 p.m. LAX Hilton room reservation instructions: Q: Are all employers covered by the AdA? Special Interactive Program, Bruce Binder Call Loretta Baker at the LAX Hilton Hotel, phone Internet Resources for Caregivers number (310) 410-6143, and request a room A: No, only those with 15 or more employees. Some states have Chair Yoga“Get Fit Where You Sit®” comparable laws covering smaller employers, but in most states From the Reeve Foundation’s Paralysis Resource Guide reservation. Specifically mention the “Spastic Lakshmi Voelker Chair Yoga offers you the ability Paraplegia Foundation, SPF” to get the special room disability discrimination is legal in very small business. FamilyCare America hopes to improve the lives of the to improve your health through an amazing form of rate of $95/night, and confirm with Loretta that you Q: does the AdA guarantee me a job? caregivers by creating a highly accessible resource for adaptive exercise. You sit in a chair or your wheelchair caregivers. FamilyCare America also serves corporate needs will receive that rate. Reserve your room by April A: No, it only protects your right to compete. If you are qualified so you can receive yoga’s healing and restorative th through specialty publishing and human resource programs. 15 for this SPF special room rate. Do not call after and able to do the job, you cannot be denied the job just because benefits that have been known for thousands of years. hours or in the evening, or the 1-800 Hilton reservation of your disability. Moreover, if you’re able to do the job with an See www.familycareamerica.com. Yoga relaxes your body and mind, improves your number. Speak only with Loretta. accommodation, the employer must provide “reasonable” Shepherd’s Centers of America (SCA) is an interfaith, musculoskeletal fitness and flexibility, and elevates your TYPES OF ROOMS: accommodation to your disability. not-for-profit organization that coordinates nearly 100 overall health and well-being. Lakshmi Voelker created independent Shepherd’s Centers across the United States There are four types of rooms available. Please read Q: do i report my disability when i apply for a job? Lakshmi Voelker Chair Yoga in 1982 and was joined by to help older adults remain independent. See www. this carefully, and request the “simplest” kind of room You are under no obligation to do so. Under the ADA, employers Bruce Binder in 2003. He manages the business while A: shepherdcenters.org that you actually need. That will allow the more may not inquire about disabilities until after a “conditional offer” Lakshmi spends her time certifying teachers around handicapped people, who need more special rooms, of employment has been made. That means you should be the US (including the Mayo Clinic). There are over Hiring and Management of Personal Care Assistants for to have them. The rooms, listed here from simple to evaluated initially the way other people are evaluated, based on Individuals with SCI is a downloadable, 26-page booklet 350 certified teachers in the US, Canada, and Japan. complex, are: your education, experience, and skills. in PDF format from the SCI Project at Santa Clara Valley Their teacher training emphasizes contraindications Medical Center. Covers everything from locating and hiring, including an entire section on wheelchair yoga. They REGULAR ROOM [not handicapped]. For non- Q: What if i want to report my disability? to training and paying personal assistants. Includes forms, will explain Chair Yoga and then have everyone handicapped people or people with handicaps who can A: It’s your call but disclosure does carry a lot of risk. For most checklists and resources. See www.tbi-sci.org/pdf/pas.pdf do OK with a regular room. If you’d prefer to use the employers, disability is still a definite negative. If you bring it out too present who wishes participate in a group experience Hilton LAX a web/ e-mail reservation address, use this early, employers may decide to avoid an uncomfortable situation Paralysis Community, a resource of www.paralysis.org, and demonstration of “Getting fit while you Sit”. simply by not selecting you for an interview. the homepage of the Christopher & Dana Reeve Foundation only for regular rooms. If you use this method, be sure Paralysis Resource Center. This is a safe and secure online Saturday 2:30 p.m. you are quoted our special rate of $95/night. Q: What about job interviews? social networking site with a robust discussion area on many Mark Weber will explain to us the way our research “S” [as in “Simple”] HANDICAP ROOM. There A: Even in an interview, ADA employers may not ask about areas of paralysis, including caregiving. Join us: Write a grants are evaluated by our Scientific Advisory Board, are 15 of these. They have a hand-held shower, and disabilities; they may ask about your ability to perform essential blog; connect with friends. Click on Community Forums at a group of neurology specialists who tell us which “easy” controls for lights, drapes, towels, but no other job functions. For example, if driving is part of the job, you can be the top of the www.paralysis.org home page; registration is research proposals are most worthy of our funding. special handicap facilities, e.g. no bars, extra room in asked if you have a driver’s license. quick and easy to access the many community features. He will also explain how the Board of Directors then bathroom, or wide doors. selects those grants that will be funded. Q: What is a “conditional offer of employment.” CareCure Forum for caregivers. Active and helpful “A” [as in “Accessible”] HANDICAP ROOM. There A: Basically; under the ADA, the employer should first evaluate message board for loved ones and caregivers of people with Mark is a founding Board member, co-chaired the are 15 of these. They have an accessible shower with your qualifications without considering disability. Before asking paralysis. On the Internet see www.sci.rutgers.edu and click Foundation Steering Committee and served as the handrails, rails by the toilet, “easy controls,” and an medical questions, the employer must tell you that you’re selected, on the “Caregiving” section. first SPF President. He is an attorney with eleven accessible chair. There is a bathtub with a chair in the contingent on your satisfying medical requirements. This means years experience as an Assistant Attorney General you should have a job offer, with all important terms like what you’ll Nursing Home Compare, sponsored by Medicare. tub. This is the usual type of “ordinary” handicap and Assistant District Attorney. Mark has been an be doing, how much you’ll be paid, and when you’ll start. After the Information about the past performance of most nursing room at most hotels. active SPF community leader since 1999, launching offer, you are subject to the same medical screening that applies homes in the U.S. Also features A Guide to Choosing a “R” [as in “Roll-in Shower”] HANDICAP ROOM. Nursing Home and a nursing home checklist. See www. and managing PLS Friends, and serving as editor of to all applicants: you should not be singled out for special scrutiny There are 4 of these. They have all the above amenities medicare.gov/NHCompare/home.asp. a PLS newsletter. Mark holds a BA in economics and because of your disability. as well as a roll-in shower, but no tub. Please request psychology and a JD. Mark and his wife and two boys this only if you need a roll-in shower, and can’t use a live in Sherman, CT. Mark serves the SPF as Legal In Memoriam bathtub with a tub-chair. Counsel and also chairs the Research Committee. In the fall of 2009, a courageous physician lost her personal battle with a devastating familial form of ALS. Her Regarding the length of your stay, remember that there personal, courageous decision to participate in a clinical trial was not in vain. Everyone in the SPF community can Synapse Appeal will be a 2-hour Sunday morning session, 9 to 11 AM, join together knowing that what her research colleagues learned from her experience will enable the field to move which will include a community interaction, three ahead more quickly to stop this insidious disease. Please use the enclosed envelope to make a different breakout sessions, and a State Ambassador Both the SPFoundation and some individuals in our patient community contributed to this exciting RNAI donation. Thanks to everyone who donated breakfast meeting. We will have recommended tours project. The Neurology Departments at the University of Massachusetts and the Massachusetts General Hospital, in 2009 to help offset the printing and and activities for Sunday afternoon. the Angel Fund, the Spaulding Rehabilitation Hospital and the Northeast ALS Consortium all collaborated on the distribution expenses. Any questions/problems, call Malin at 310 378 4059 groundbreaking research and funding which made the trial possible. or e-mail: [email protected] 12 5 PatientsLikeMe dealing with Anger SP Foundation News PatientsLikeMe (PLM) tracks disease progression and From the Reeve Foundation’s Paralysis Resource Guide medications for PLS patients who choose to share their You can’t eliminate anger, and it wouldn’t be a good idea Constituent Outreach Task force (COTf) The COTF is just beginning to look for new ideas information. You only post what you want, and never if you could. Life will always bring you your share of Launched by SPf Board and approaches to improving the SPF organization’s your name. If you choose, you can insert your picture. frustration, pain, loss, and the unpredictable actions of Jim Campbell, Chairman outreach. If you would like to contact us before the As of mid-December, worldwide 230 PLSers have others. You can’t change that; but you can change the every member survey is published please send us an way you let such events affect you, especially if anger is In October the SPF Board created a task force to posted their information. Please check it out www. email at [email protected] . an issue. examine how to better serve and communicate with patientslikeme.com/home Simple relaxation techniques, such as deep breathing and our constituents. Our focus is to identify the issues The COTF is comprised of SPF State Ambassadors Below is more information from their website on how pleasing imagery, can help calm down angry feelings. and services that are of interest to our SPF patient and Marlene Doolen (TX), Judy Johnson (NH) and Mari PLM works. Try this: caregiver community. White (KS) and Board members Jim Campbell, Jean Chambers, Frank Davis and Ashton Hecker. is sharing data on PatientsLikeMe safe? • BREATHE DEEPLY, from your diaphragm; breathing Only a small minority of our 2400 SPF community When sharing information about an illness or disease from your chest won’t relax you. Picture your breath members (under 200) attend any of our regional events in any community, there is always a risk that someone coming up from your “gut.” PLS Grant update - social get togethers called Connections or participate could use this information against you. We also believe • Hiroshi Mitsumoto, MD, D.Sc., Director, Eleanor & SLOWLY REPEAT A CALM WORD OR PHRASE in our fundraising TeamWalks. Many members join our that openly sharing information is an important way to such as “relax,” or “take it easy:’ Repeat it to yourself Lou Gehrig MDA/ALS Center, The Neurological on-line support groups PLS-Friends and HSP ListServ improve medical care. Ultimately, it is your decision while breathing deeply. soon after being diagnosed, then seem to fade away. Institute, Columbia University College of Physicians to make about how to balance these risks. We do not • visualize a relaxing experience, On a typical day only a couple dozen or so contribute and Surgeons, New York, NY was awarded a two year USE IMAGERY; display your name or email address and you control from your memory or your imagination. Practice these SPF research grant. It was announced in the Autumn email inputs. We have a data base of SP patients and what information you enter and, therefore, share. techniques daily and remind yourself that the world is Synapse, titled “Multicenter Prospective PLS Natural caregivers first established by Frank Reyerse years “not out to get you.” ago, yet only about one sixth of our 2400 members History Study”. Dr. Mitsumoto has lined up 11 ALS What is Openness and what about Privacy? Source: American Psychological Association; www.apa.org have entered their personal data. So you can see there centers to participate in his PLS study. There are at least We believe privacy has hindered the effective is significant room for increased participation by our 5 full time centers with the rest being satellite centers. development of new treatments and shared community members. His prospective study will follow newly diagnosed understanding of how to manage disease. We’re Legal Basics: Job Hunting with a disability patients with PLS for 5 years and checked on them embracing a new model founded on the belief that From the Reeve Foundation’s Paralysis Resource Guide The COTF thinks the answer to improving our SPF each annually. openness is a good thing. We believe openness can save By Harriet McBryde Johnson, Attorney at Law organization’s effectiveness may lie in altering both the lives and improve care for everyone. It is at the core Note: This article offers general information about law and is content of our offerings and the way in which they are The project as now written is funded primarily with of who we are as a company. Understanding privacy is not intended as a substitute for individual legal advice. a large NIH grant. Dr. Mitsumoto will be applying delivered. Regarding the content of our offerings and important too. Our website can only work if we build for an approximately million dollar grant for the PLS Under the best of circumstances, job hunting is services we plan an every member survey sometime in trust with our patient communities. Without the trust component of the project. His team will be taking probably the hardest job you’ll ever have. For anyone, the first half of 2010. Much has changed since the prior of our members, we would not be able to accomplish specimens and sending them to Dr. Teepu Siddique it requires energy and dogged persistence-keeping at it survey was done over 7 years ago in 2002. our mission to improve healthcare. Privacy is also a where he will look for abnormal proteins. in the face of rejection. A disability can make it even We believe Synapse is an effective way to communicate legal term and we have worked hard to develop a good tougher. Functional limitations may make some jobs nationally on a periodic basis, but here also we want This will be the first major PLS study. It will categorize policy. The entire privacy policy is on the website. impossible. You may need to find a unique job that will to find out how it could better fill a need. Wesee PLS patients better than has been possible in the past. accommodate your unique situation. Instead of merely does PatientsLikeMe sell my information? email as our most cost effective and quickest way What we are giving is just seed money for a much adapting to the workplace, you may need a workplace to communicate important announcements, yet we larger NIH funding. He suggests that we approve this Our goal is to create partnerships between patients and the companies that are developing products to that adapts to you. currently have email addresses for only 80% of the project as amended. Our project is $60,000 for first and help them. To do that we will take the information you Added to all of this is that ugly fact of life we’d like Synapse subscribers. $60,000 for the second year. It will be amended for a new start date from Sept 2009 to Sept 2010. entrust to us and sell it--in an anonymous, aggregated to forget: discrimination. Despite some real progress, We think the State Ambassadors have the potential to and individual format--to the companies that can many employers still have trouble seeing people with strengthen our organization by bringing the national In contrast to this project, Dr. Mary Kay Floeter’s use that data to improve or understand products or disabilities as part of the workforce. In your job hunt, agenda to the state level and adding a personal touch. PLS project has 23 people in it while this one will the disease market. We will not sell your personally you’re likely to encounter unfounded myths, fears, and Presently the COTF is contacting our 40 or so current have between 100 to 150 patients. Everybody in her identifiable information (like your name or contact stereotypes. The good news is that the law, particularly state ambassadors to see what ideas they have and project, she diagnoses with PLS. Every center in information) for marketing purposes or without your the Americans with Disabilities Act, offers some help. whether they are amenable to increased visibility and a Dr. Mitsumoto’s project will use the same diagnosis expressed permission. It hasn’t leveled the playing field. It hasn’t made job larger role in the SPF program. criteria. Both will follow patients for good number of Editor’s note: Right now, PLM is the most comprehensive PLS hunting easy. But you can improve your chances of years. data base and information source in the world both for patients and researchers. Thank you to the 230 who’ve signed up. To all of winning the job that’s right for you by being armed the others with PLS, please add your data today. with a little knowledge of how the laws work. 6 11 Let’s Exercise Together! rare disease day february 28, 2010 Event Reports Contributed by Christina Buck Why Rare Disease Day? Sarah Roberts-Witt, editor by the spasticity and contractures of PLS and HSP. Yesterday I rode my tricycle 3 She, her assistant, and my student PT gave an extensive miles! I needed a 3 hour nap to n Because we constantly need to raise awareness Norman, Oklahoma – October 2nd-3rd on rare diseases among decisions makers, health demonstration of the stretches and exercises, and answered recover, but it was well worth Mark Dvorak, Chair questions afterwards. it. When I first bought the professionals and the general public. Information is Report submitted by Michael Petrey Lunch was next, a time when old friendships were renewed trike I could barely ride it key to improving living conditions for rare disease On Friday evening, we met at the Stephenson Research and and new ones were made. We also conducted a free raffle and thought I had made a patients; raising awareness is therefore one of our Technology Center at the Oklahoma University Genome of donated items. After lunch, Jennifer Della Ruffa of primary goals. mistake. Now I am riding center, toured the building, and saw the Bion Model. My Dynavox discussed the wide variety of Augmentive like a pro and loving n Because acting simultaneously in many places whole family, including my 9-year old grandson, found Alternative Communication (AAC) equipment as well every minute of it. I highly recommend it as a wonderful, and in many countries can ensure the voice of rare the Model fascinating. We were able to easily understand as voice banking. Roland Grundmann (www.Ride-Away. no fall down way to exercise. It is very freeing. disease patients is heard by more people. it’s similarities to our own nerve sensors (such as touch com) was next with a discussion of the available vehicle I am also doing well with my weight loss. I have lost and smell) and how the stimulation is communicated conversion options. He also demonstrated the features n Because rare diseases are a public health priority 20 pounds! I am working hard on this and still feeling across our bodies and to our brains. of a handicapped modified minivan he had brought. On today in the European Union. very motivated. My goal is to lose 10 more pounds by The Bion Model consists of hundreds of tiny glowing, behalf of his company, he gave gift certificates to meeting the end of the year. I will have lost over 10% of my n Because a day focused on rare diseases can bring chirping three-dimensional sculptural forms called bions. attendees entitling them to a $1,000 reduction in the price body weight, which will have reduced my chances of hope and information to people living with rare Each bion is a synthetic “life-form” that’s fitted with an of a new or used minivan from Ride-Away. audio speaker, blue LEDs, and multiple sensors. The bions getting diabetes by 58%. I’m exercising at least 30 diseases, their caregivers and their families. I am looking forward to the 30th CT Connection in the are arranged at different elevations and are suspended by minutes daily (with weights at least 2X a week) and I Spring. By popular demand, we will be welcoming back n Because we want equity in access to care and fine gage wires. The wires are connected to panels on feel really good. Keith Mullinar, a trainer of helper dogs. He will bring treatment for rare disease patients in Europe and the ceiling, which form the Bion Model’s “brain”. Each a dog to demonstrate some of the tasks helper dogs are I hope that my journey can help inspire others. I am beyond. bion has the ability to communicate with the others and highly motivated to not get diabetes (having PLS capable of. Our meetings are not limited to CT residents. n Because we need an action that can bring all with viewers who enter the space. For example, when we is enough) and I get a lot of my motivation from approached a Bion cluster, one of the bions immediately If you’d like to attend, watch for the announcement online stakeholders of the rare disease community together watching Dr. Oz on TV, too. I bought my trike from an detected our presence. We watched the lights ripple along or email me at [email protected]. independent cycle shop. It cost $400. with the same goal. the model as that information was communicated up n Because we need more funds for research and through the swarm of bions to the brain. Autumn in Carolina rural Hall, NC – What an inspiration! Here are some comments – care, and more research and efforts directed towards On Saturday, we met for the Oklahoma TeamWalk at an October 17th “I am joining up with you girlfriend and see if I can lose 20 rare diseases. indoor gym-track at the First Baptist Church. Don Wilson, Chair Report submitted by SAWCAR champion Ronnie Grove lbs toooooo so let’s do it together dawling so I can tap dance n Because we need to keep fighting for rare disease Approximately 25 individuals were present, including several HSPers and PLSers, one individual with Ataxia, better. We will report our weight loss ever so often…ok?” patients. Well, it’s like this. Jane Ann King and I ran the scooter and caregivers. After the TeamWalk, we met for lunch race. I was on a scooter and she was riding a bulky mule. “Way ta go Christina! You have inspired me! I have been n Because we need to coordinate policy actions at and conversation. This was my first SPF function so I bent You know how she likes horses. Someone must have working on the mind/spirit part of my ‘journey’ a lot. But I national level and at the international level. everyone’s ear by asking about issues we all experience, switched her steed for a mule so I just ran away from her. commonalities, and medications. I found this working crave exercise. Before I got PLS I used to be a runner, body More specifically, this year we are seeking to achieve Then the wheelchairs raced. Sarah Roberts-Witt ran away session very helpful and am extremely thankful to Mark from the crowd. She was waaay out front the whole way- sculptor etc. I am trying to lose 20 pounds right now. Lost the following objectives: and his family for putting the event together. 5 so far. Good for you my friend! Hugs!” • Promote research interest in the field of rare -flying a jet plane and spreadin’ sparks. She was running diseases. so fast her wheels were wobbling! I was thinking I’d be rd eatin’ dust just like two years ago when I trailed Annette “I have started some exercises, but oh MAN my muscles • Promote collaboration between patients and Hartford, Connecticut – October 3 hurt later on...real cramping. Guess I pushed too hard.” Contributed by Dolores Carron, Chair by two states in the finals. But this time my scooter came researchers. through with a championship. The only thing I can figure The 29th meeting of the CT Connection was held at • To shape public policy and the research agenda. is Sarah’s fingers froze in place. It could have been the the N.E.A.T. Marketplace in Hartford. The informative • To empower patients as actors in research. snow and ice on the track because we had 90 mph winds program included presentations by Liz Wrobleski, a PT • To define research needs and priorities for rare and temps below zero. And if that’s not the truth, all I can Challenges are what make life who was diagnosed with HSP in 2004; Jennifer Della diseases. say is it sure felt like it. Anyway, the deed is done, the Ruffa, a Dynavox representative; and Ride-Away sales interesting; overcoming them is tears have been shed, the name-calling is over, the blood For more information about how you can participate, associate Roland Grundmann. what makes life meaningful. please go to www.rarediseaseday.org. has been removed, and we all left friends. . .I think. And Liz spoke about helpful exercises that can be used to for $24.95 you can view my trophy at the 10th Annual -Joshua J. Marine prevent/delay the progression of complications caused Spring Fling in Berkeley Springs.

10 7 A few words from Don Santa Ana, California – November 21st Living with HSP or PLS Bettie Jo and I were happy to welcome more than 35 old Contributed by Malin Dollinger, Chair and new friends to Autumn in Carolina this year. We talked Two Spinal Cord injury foundations Have Merged A Letter to the Editor The Southern California Connection was held at the On what would have been Christopher Reeve’s 57th of those who came to our first event in 2001, and here we Hi Thurza, Embassy Suites Hotel in Santa Ana. We had 15 people birthday, Life Rolls On Foundation (LRO) and the Chris- are eight year later. Our goal has always been to send for lunch, and for a discussion of our goals, problems, I just wanted to say I enjoyed folks home with good memories. I doubt that anyone will topher & Dana Reeve Foundation have announced a victories, and solutions. A family from Australia--Sue, merger. Effective immediately, Life Rolls On Founda- your article about giving up forget people running around the room pretending to be Jari, and Jesse Holopainen—told us about the health care tion, based in Los Angeles, will serve as the West Coast one’s driver’s license. This lawn-mowers or trimmers. Or Martin Beckner’s glee situation “down under” and the problems of the very few upon finding the “gold” in his treasure chest. Who could headquarters and division of the Reeve Foundation. has been one of the most people there diagnosed with HSP. When they shared their frustrating things for me - but I forget the joy on Sarah Witt’s face as she won the power problems and their solutions, we were impressed by how The Reeve Foundation is a national, non-profit or- chair division of the SAWCAR 280, and the same huge ganization dedicated to finding cures and treatments know it is the right thing to do. All of the medications I universal these “facts of life” are, no matter what country am on would be the equivalent of driving while ability smile as she followed Ronnie across the finish line in an people are from. In addition to the Holopainen family, we for spinal cord injuries and improving the lives of impaired (not to mention might have me fall asleep attempt to win the title of Grand Champion. We provided were joined by Craig and Linda Gentner, John and Jane people living with paralysis. Life Rolls On, founded the location and opportunity, but each and every attendant Mitchell, Hoyt Johnstone, Barbara Hardwick, Deidre by Jesse and Josh Billauer, is dedicated to improving at the wheel). The AFO on my right foot would make made the event a success. Maze, Philippa Green of Australia, and Will and Marilyn the quality of life for young people affected by spinal managing the pedals difficult. My heightened startle Bishop. response would no doubt contribute to an accident. th cord injury (SCI) and utilizes action sports as a plat- Houston, Texas – November 7 form to inspire infinite possibilities despite paralysis. I never owned a car in my life -I always used public Contributed by Ida Park, Chair Lenore Dollinger discussed some specific aspects of exercise. She emphasized the need for upper body Both organizations’ mission and focus will remain the transportation - but I did rent cars (and in Seattle flex Twenty-five adults and teens and five young children conditioning in particular, since we use our upper body same. LRO will continue to produce unique quality cars which you could use by the hour) and really participated in this year’s Texas TeamWalk. The muscles more than most to help us navigate and move of life programs, including its award-winning, adap- enjoyed the freedom of being able to drive when I location was Bear Branch Park, The Woodlands, which around. Lenore will speak at our national meeting tive surfing program, They Will Surf Again, as well as wanted. Sometimes I feel like a child again. This is northwest of Houston. We walked or rolled through a on how to use acupressure to manage stress. She is a education, motivation and awareness initiatives. Sunday, in fact, I am going to a concert 15 minutes beautiful wooded area with a wide cement sidewalk. The registered nurse who practiced that specialty for many Ed. Note: The Christopher & Dana Reeve Foundation supports away - paratransit does not go there - and my mom has walk through the forest showed how powerful Hurricane years. Informal polling disclosed that everyone present to drive me. It’s better than me ending up injured/dead Ike was last year and why it forced us to cancel in 2008. SPF financially. I now have its 2009 Paralysis Resource Guide. had seen many different physicians before their diagnosis Sixteen diseases or conditions are covered in the Guide. I’ll be or injuring or killing someone else. was established. The record was set by Jane Mitchell, who SPF board member Ashton Hecker invited Colby Brotherton including information from this valuable guide in this and future Thankfully where I live there is public transportation of Dynamic Orthotics and Prosthetics to talk about foot and saw 10 different doctors!! There were also some subjects issues. and paratransit (the ADA stipulates any town/city that leg braces. Colby also showed us a variety of brace types. A mentioned as possible topics for our annual meeting. has public transportation must have a paratransit system selection of freshly made sandwiches and soft drinks were Legislation introduced in u.S. Congress donated by Valero Retail Holdings for us to enjoy after the for the disabled so as to not discriminate). Paratransit regarding Clinical Trial Participation has been a life saver for me - otherwise I would be walk. Thanks goes to everyone who participated in the walk UPCOMING EVENTS Contributed by Lynn Holmes and to those who contributed in raising funds for research to stuck at home except on weekends when my mom is Spring fling #10 in 2010 Both houses of Congress have bills in Committee (as find the cures for HSP and PLS. May 7-8, 2010 - Berkeley Springs, WV not at work - OR I’d be spending an exorbitant amount of 12/13/09) regarding Clinical Trial Participation. of money on taxis. Contributed by Ronnie Grove, [email protected] Queenstown, Maryland – November 7th The “Improving Access to Clinical Trials Act of I always appreciate your insightful contributions to Contributed by Chair, Joan Heinicke Make plans to attend a very special WV Connection with 2009” would allow patients with a rare disease to Synapse. lots of specialists—namely, you. No one knows PLS and The 7th Annual RGM fore SPF Golf Classic was held at participate in clinical trials without losing their Sincerely, Christina Buck HSP better than we do. I’m still working on many of the the Queenstown Harbor Golf Course. The River Course eligibility for government health benefits. Current details but I do have a speech pathologist lined up. She was used, which is the premier course at that location rules for Supplemental Security Income (SSI) and would like to know what you are interested in learning with expansive views of the Chesapeake Bay. Some 140 Medicaid eligibility require that compensation for An Opportunity to Give more about, i.e., augmentative communication, speech golfers participated, including many members of the participation in a clinical trial be counted as income. Contributed by Jane Anne King or other? Also, let me know via email if any of you are Milbourne family. The morning was chilly but the day This bill would allow individuals with a rare disease Jerry Simmons gave me a interested in an extra day of meetings. For example, we turned out to be sunny and pleasant. Coffee, donuts, and a wheelchair to give this man could start on Thursday and leave Sunday, or come in to disregard up to $2,000 of compensation when bloody Mary bar were provided at registration, and lunch Jerry Mullins in Kentucky. Friday and leave Monday. I am open to your suggestions calculating income, thereby allowing more Americans stations were set up throughout the course. Pit beef and receiving public assistance to participate in clinical He was so appreciative Rooms are available at Best Western-Berkeley Springs turkey, chili, clam chowder, hot dogs, and fresh shucked trials. of the wheelchair. Jerry Inn for $59/night. To make reservations, call 304-258- oysters were among the many foods offered. During S. 1674: Improving Access to Clinical Trials Act of 2009 Simmons said this was 9400 and ask for the Spring Fling block. Handicapped the dinner banquet, a fifty-fifty raffle, and live and silent H.R. 2866: Improving Access to Clinical Trials Act of 2009 an omen since the other auctions were held, which helped bring in a nice sum for rooms at the Inn are scarce, so call early. However, many man was named Jerry. the SPF. The tournament is held in memory of Richard other motels are nearby. So mark the date for Berkeley To track the progress of these bills, contact your Senator G. Milbourne, whose three children have HSP. The event Springs and remember, this is the place where all the or Representative, or go to www.govtrack.us/congress/ We all should try to make has raised more than $120,000 for SPF since it began. women are gorgeous and the men are lucky. bill.xpd?bill=h111-2866&tab=related other people happy with gifts of things we do not use anymore. 8 9 A few words from Don Santa Ana, California – November 21st Living with HSP or PLS Bettie Jo and I were happy to welcome more than 35 old Contributed by Malin Dollinger, Chair and new friends to Autumn in Carolina this year. We talked Two Spinal Cord injury foundations Have Merged A Letter to the Editor The Southern California Connection was held at the On what would have been Christopher Reeve’s 57th of those who came to our first event in 2001, and here we Hi Thurza, Embassy Suites Hotel in Santa Ana. We had 15 people birthday, Life Rolls On Foundation (LRO) and the Chris- are eight year later. Our goal has always been to send for lunch, and for a discussion of our goals, problems, I just wanted to say I enjoyed folks home with good memories. I doubt that anyone will topher & Dana Reeve Foundation have announced a victories, and solutions. A family from Australia--Sue, merger. Effective immediately, Life Rolls On Founda- your article about giving up forget people running around the room pretending to be Jari, and Jesse Holopainen—told us about the health care tion, based in Los Angeles, will serve as the West Coast one’s driver’s license. This lawn-mowers or trimmers. Or Martin Beckner’s glee situation “down under” and the problems of the very few upon finding the “gold” in his treasure chest. Who could headquarters and division of the Reeve Foundation. has been one of the most people there diagnosed with HSP. When they shared their frustrating things for me - but I forget the joy on Sarah Witt’s face as she won the power problems and their solutions, we were impressed by how The Reeve Foundation is a national, non-profit or- chair division of the SAWCAR 280, and the same huge ganization dedicated to finding cures and treatments know it is the right thing to do. All of the medications I universal these “facts of life” are, no matter what country am on would be the equivalent of driving while ability smile as she followed Ronnie across the finish line in an people are from. In addition to the Holopainen family, we for spinal cord injuries and improving the lives of impaired (not to mention might have me fall asleep attempt to win the title of Grand Champion. We provided were joined by Craig and Linda Gentner, John and Jane people living with paralysis. Life Rolls On, founded the location and opportunity, but each and every attendant Mitchell, Hoyt Johnstone, Barbara Hardwick, Deidre by Jesse and Josh Billauer, is dedicated to improving at the wheel). The AFO on my right foot would make made the event a success. Maze, Philippa Green of Australia, and Will and Marilyn the quality of life for young people affected by spinal managing the pedals difficult. My heightened startle Bishop. response would no doubt contribute to an accident. th cord injury (SCI) and utilizes action sports as a plat- Houston, Texas – November 7 form to inspire infinite possibilities despite paralysis. I never owned a car in my life -I always used public Contributed by Ida Park, Chair Lenore Dollinger discussed some specific aspects of exercise. She emphasized the need for upper body Both organizations’ mission and focus will remain the transportation - but I did rent cars (and in Seattle flex Twenty-five adults and teens and five young children conditioning in particular, since we use our upper body same. LRO will continue to produce unique quality cars which you could use by the hour) and really participated in this year’s Texas TeamWalk. The muscles more than most to help us navigate and move of life programs, including its award-winning, adap- enjoyed the freedom of being able to drive when I location was Bear Branch Park, The Woodlands, which around. Lenore will speak at our national meeting tive surfing program, They Will Surf Again, as well as wanted. Sometimes I feel like a child again. This is northwest of Houston. We walked or rolled through a on how to use acupressure to manage stress. She is a education, motivation and awareness initiatives. Sunday, in fact, I am going to a concert 15 minutes beautiful wooded area with a wide cement sidewalk. The registered nurse who practiced that specialty for many Ed. Note: The Christopher & Dana Reeve Foundation supports away - paratransit does not go there - and my mom has walk through the forest showed how powerful Hurricane years. Informal polling disclosed that everyone present to drive me. It’s better than me ending up injured/dead Ike was last year and why it forced us to cancel in 2008. SPF financially. I now have its 2009 Paralysis Resource Guide. had seen many different physicians before their diagnosis Sixteen diseases or conditions are covered in the Guide. I’ll be or injuring or killing someone else. was established. The record was set by Jane Mitchell, who SPF board member Ashton Hecker invited Colby Brotherton including information from this valuable guide in this and future Thankfully where I live there is public transportation of Dynamic Orthotics and Prosthetics to talk about foot and saw 10 different doctors!! There were also some subjects issues. and paratransit (the ADA stipulates any town/city that leg braces. Colby also showed us a variety of brace types. A mentioned as possible topics for our annual meeting. has public transportation must have a paratransit system selection of freshly made sandwiches and soft drinks were Legislation introduced in u.S. Congress donated by Valero Retail Holdings for us to enjoy after the for the disabled so as to not discriminate). Paratransit regarding Clinical Trial Participation has been a life saver for me - otherwise I would be walk. Thanks goes to everyone who participated in the walk UPCOMING EVENTS Contributed by Lynn Holmes and to those who contributed in raising funds for research to stuck at home except on weekends when my mom is Spring fling #10 in 2010 Both houses of Congress have bills in Committee (as find the cures for HSP and PLS. May 7-8, 2010 - Berkeley Springs, WV not at work - OR I’d be spending an exorbitant amount of 12/13/09) regarding Clinical Trial Participation. of money on taxis. Contributed by Ronnie Grove, [email protected] Queenstown, Maryland – November 7th The “Improving Access to Clinical Trials Act of I always appreciate your insightful contributions to Contributed by Chair, Joan Heinicke Make plans to attend a very special WV Connection with 2009” would allow patients with a rare disease to Synapse. lots of specialists—namely, you. No one knows PLS and The 7th Annual RGM fore SPF Golf Classic was held at participate in clinical trials without losing their Sincerely, Christina Buck HSP better than we do. I’m still working on many of the the Queenstown Harbor Golf Course. The River Course eligibility for government health benefits. Current details but I do have a speech pathologist lined up. She was used, which is the premier course at that location rules for Supplemental Security Income (SSI) and would like to know what you are interested in learning with expansive views of the Chesapeake Bay. Some 140 Medicaid eligibility require that compensation for An Opportunity to Give more about, i.e., augmentative communication, speech golfers participated, including many members of the participation in a clinical trial be counted as income. Contributed by Jane Anne King or other? Also, let me know via email if any of you are Milbourne family. The morning was chilly but the day This bill would allow individuals with a rare disease Jerry Simmons gave me a interested in an extra day of meetings. For example, we turned out to be sunny and pleasant. Coffee, donuts, and a wheelchair to give this man could start on Thursday and leave Sunday, or come in to disregard up to $2,000 of compensation when bloody Mary bar were provided at registration, and lunch Jerry Mullins in Kentucky. Friday and leave Monday. I am open to your suggestions calculating income, thereby allowing more Americans stations were set up throughout the course. Pit beef and receiving public assistance to participate in clinical He was so appreciative Rooms are available at Best Western-Berkeley Springs turkey, chili, clam chowder, hot dogs, and fresh shucked trials. of the wheelchair. Jerry Inn for $59/night. To make reservations, call 304-258- oysters were among the many foods offered. During S. 1674: Improving Access to Clinical Trials Act of 2009 Simmons said this was 9400 and ask for the Spring Fling block. Handicapped the dinner banquet, a fifty-fifty raffle, and live and silent H.R. 2866: Improving Access to Clinical Trials Act of 2009 an omen since the other auctions were held, which helped bring in a nice sum for rooms at the Inn are scarce, so call early. However, many man was named Jerry. the SPF. The tournament is held in memory of Richard other motels are nearby. So mark the date for Berkeley To track the progress of these bills, contact your Senator G. Milbourne, whose three children have HSP. The event Springs and remember, this is the place where all the or Representative, or go to www.govtrack.us/congress/ We all should try to make has raised more than $120,000 for SPF since it began. women are gorgeous and the men are lucky. bill.xpd?bill=h111-2866&tab=related other people happy with gifts of things we do not use anymore. 8 9 Let’s Exercise Together! rare disease day february 28, 2010 Event Reports Contributed by Christina Buck Why Rare Disease Day? Sarah Roberts-Witt, editor by the spasticity and contractures of PLS and HSP. Yesterday I rode my tricycle 3 She, her assistant, and my student PT gave an extensive miles! I needed a 3 hour nap to n Because we constantly need to raise awareness Norman, Oklahoma – October 2nd-3rd on rare diseases among decisions makers, health demonstration of the stretches and exercises, and answered recover, but it was well worth Mark Dvorak, Chair questions afterwards. it. When I first bought the professionals and the general public. Information is Report submitted by Michael Petrey Lunch was next, a time when old friendships were renewed trike I could barely ride it key to improving living conditions for rare disease On Friday evening, we met at the Stephenson Research and and new ones were made. We also conducted a free raffle and thought I had made a patients; raising awareness is therefore one of our Technology Center at the Oklahoma University Genome of donated items. After lunch, Jennifer Della Ruffa of primary goals. mistake. Now I am riding center, toured the building, and saw the Bion Model. My Dynavox discussed the wide variety of Augmentive like a pro and loving n Because acting simultaneously in many places whole family, including my 9-year old grandson, found Alternative Communication (AAC) equipment as well every minute of it. I highly recommend it as a wonderful, and in many countries can ensure the voice of rare the Model fascinating. We were able to easily understand as voice banking. Roland Grundmann (www.Ride-Away. no fall down way to exercise. It is very freeing. disease patients is heard by more people. it’s similarities to our own nerve sensors (such as touch com) was next with a discussion of the available vehicle I am also doing well with my weight loss. I have lost and smell) and how the stimulation is communicated conversion options. He also demonstrated the features n Because rare diseases are a public health priority 20 pounds! I am working hard on this and still feeling across our bodies and to our brains. of a handicapped modified minivan he had brought. On today in the European Union. very motivated. My goal is to lose 10 more pounds by The Bion Model consists of hundreds of tiny glowing, behalf of his company, he gave gift certificates to meeting the end of the year. I will have lost over 10% of my n Because a day focused on rare diseases can bring chirping three-dimensional sculptural forms called bions. attendees entitling them to a $1,000 reduction in the price body weight, which will have reduced my chances of hope and information to people living with rare Each bion is a synthetic “life-form” that’s fitted with an of a new or used minivan from Ride-Away. audio speaker, blue LEDs, and multiple sensors. The bions getting diabetes by 58%. I’m exercising at least 30 diseases, their caregivers and their families. I am looking forward to the 30th CT Connection in the are arranged at different elevations and are suspended by minutes daily (with weights at least 2X a week) and I Spring. By popular demand, we will be welcoming back n Because we want equity in access to care and fine gage wires. The wires are connected to panels on feel really good. Keith Mullinar, a trainer of helper dogs. He will bring treatment for rare disease patients in Europe and the ceiling, which form the Bion Model’s “brain”. Each a dog to demonstrate some of the tasks helper dogs are I hope that my journey can help inspire others. I am beyond. bion has the ability to communicate with the others and highly motivated to not get diabetes (having PLS capable of. Our meetings are not limited to CT residents. n Because we need an action that can bring all with viewers who enter the space. For example, when we is enough) and I get a lot of my motivation from approached a Bion cluster, one of the bions immediately If you’d like to attend, watch for the announcement online stakeholders of the rare disease community together watching Dr. Oz on TV, too. I bought my trike from an detected our presence. We watched the lights ripple along or email me at [email protected]. independent cycle shop. It cost $400. with the same goal. the model as that information was communicated up n Because we need more funds for research and through the swarm of bions to the brain. Autumn in Carolina rural Hall, NC – What an inspiration! Here are some comments – care, and more research and efforts directed towards On Saturday, we met for the Oklahoma TeamWalk at an October 17th “I am joining up with you girlfriend and see if I can lose 20 rare diseases. indoor gym-track at the First Baptist Church. Don Wilson, Chair Report submitted by SAWCAR champion Ronnie Grove lbs toooooo so let’s do it together dawling so I can tap dance n Because we need to keep fighting for rare disease Approximately 25 individuals were present, including several HSPers and PLSers, one individual with Ataxia, better. We will report our weight loss ever so often…ok?” patients. Well, it’s like this. Jane Ann King and I ran the scooter and caregivers. After the TeamWalk, we met for lunch race. I was on a scooter and she was riding a bulky mule. “Way ta go Christina! You have inspired me! I have been n Because we need to coordinate policy actions at and conversation. This was my first SPF function so I bent You know how she likes horses. Someone must have working on the mind/spirit part of my ‘journey’ a lot. But I national level and at the international level. everyone’s ear by asking about issues we all experience, switched her steed for a mule so I just ran away from her. commonalities, and medications. I found this working crave exercise. Before I got PLS I used to be a runner, body More specifically, this year we are seeking to achieve Then the wheelchairs raced. Sarah Roberts-Witt ran away session very helpful and am extremely thankful to Mark from the crowd. She was waaay out front the whole way- sculptor etc. I am trying to lose 20 pounds right now. Lost the following objectives: and his family for putting the event together. 5 so far. Good for you my friend! Hugs!” • Promote research interest in the field of rare -flying a jet plane and spreadin’ sparks. She was running diseases. so fast her wheels were wobbling! I was thinking I’d be rd eatin’ dust just like two years ago when I trailed Annette “I have started some exercises, but oh MAN my muscles • Promote collaboration between patients and Hartford, Connecticut – October 3 hurt later on...real cramping. Guess I pushed too hard.” Contributed by Dolores Carron, Chair by two states in the finals. But this time my scooter came researchers. through with a championship. The only thing I can figure The 29th meeting of the CT Connection was held at • To shape public policy and the research agenda. is Sarah’s fingers froze in place. It could have been the the N.E.A.T. Marketplace in Hartford. The informative • To empower patients as actors in research. snow and ice on the track because we had 90 mph winds program included presentations by Liz Wrobleski, a PT • To define research needs and priorities for rare and temps below zero. And if that’s not the truth, all I can Challenges are what make life who was diagnosed with HSP in 2004; Jennifer Della diseases. say is it sure felt like it. Anyway, the deed is done, the Ruffa, a Dynavox representative; and Ride-Away sales interesting; overcoming them is tears have been shed, the name-calling is over, the blood For more information about how you can participate, associate Roland Grundmann. what makes life meaningful. please go to www.rarediseaseday.org. has been removed, and we all left friends. . .I think. And Liz spoke about helpful exercises that can be used to for $24.95 you can view my trophy at the 10th Annual -Joshua J. Marine prevent/delay the progression of complications caused Spring Fling in Berkeley Springs.

10 7 PatientsLikeMe dealing with Anger SP Foundation News PatientsLikeMe (PLM) tracks disease progression and From the Reeve Foundation’s Paralysis Resource Guide medications for PLS patients who choose to share their You can’t eliminate anger, and it wouldn’t be a good idea Constituent Outreach Task force (COTf) The COTF is just beginning to look for new ideas information. You only post what you want, and never if you could. Life will always bring you your share of Launched by SPf Board and approaches to improving the SPF organization’s your name. If you choose, you can insert your picture. frustration, pain, loss, and the unpredictable actions of Jim Campbell, Chairman outreach. If you would like to contact us before the As of mid-December, worldwide 230 PLSers have others. You can’t change that; but you can change the every member survey is published please send us an way you let such events affect you, especially if anger is In October the SPF Board created a task force to posted their information. Please check it out www. email at [email protected] . an issue. examine how to better serve and communicate with patientslikeme.com/home Simple relaxation techniques, such as deep breathing and our constituents. Our focus is to identify the issues The COTF is comprised of SPF State Ambassadors Below is more information from their website on how pleasing imagery, can help calm down angry feelings. and services that are of interest to our SPF patient and Marlene Doolen (TX), Judy Johnson (NH) and Mari PLM works. Try this: caregiver community. White (KS) and Board members Jim Campbell, Jean Chambers, Frank Davis and Ashton Hecker. is sharing data on PatientsLikeMe safe? • BREATHE DEEPLY, from your diaphragm; breathing Only a small minority of our 2400 SPF community When sharing information about an illness or disease from your chest won’t relax you. Picture your breath members (under 200) attend any of our regional events in any community, there is always a risk that someone coming up from your “gut.” PLS Grant update - social get togethers called Connections or participate could use this information against you. We also believe • Hiroshi Mitsumoto, MD, D.Sc., Director, Eleanor & SLOWLY REPEAT A CALM WORD OR PHRASE in our fundraising TeamWalks. Many members join our that openly sharing information is an important way to such as “relax,” or “take it easy:’ Repeat it to yourself Lou Gehrig MDA/ALS Center, The Neurological on-line support groups PLS-Friends and HSP ListServ improve medical care. Ultimately, it is your decision while breathing deeply. soon after being diagnosed, then seem to fade away. Institute, Columbia University College of Physicians to make about how to balance these risks. We do not • visualize a relaxing experience, On a typical day only a couple dozen or so contribute and Surgeons, New York, NY was awarded a two year USE IMAGERY; display your name or email address and you control from your memory or your imagination. Practice these SPF research grant. It was announced in the Autumn email inputs. We have a data base of SP patients and what information you enter and, therefore, share. techniques daily and remind yourself that the world is Synapse, titled “Multicenter Prospective PLS Natural caregivers first established by Frank Reyerse years “not out to get you.” ago, yet only about one sixth of our 2400 members History Study”. Dr. Mitsumoto has lined up 11 ALS What is Openness and what about Privacy? Source: American Psychological Association; www.apa.org have entered their personal data. So you can see there centers to participate in his PLS study. There are at least We believe privacy has hindered the effective is significant room for increased participation by our 5 full time centers with the rest being satellite centers. development of new treatments and shared community members. His prospective study will follow newly diagnosed understanding of how to manage disease. We’re Legal Basics: Job Hunting with a disability patients with PLS for 5 years and checked on them embracing a new model founded on the belief that From the Reeve Foundation’s Paralysis Resource Guide The COTF thinks the answer to improving our SPF each annually. openness is a good thing. We believe openness can save By Harriet McBryde Johnson, Attorney at Law organization’s effectiveness may lie in altering both the lives and improve care for everyone. It is at the core Note: This article offers general information about law and is content of our offerings and the way in which they are The project as now written is funded primarily with of who we are as a company. Understanding privacy is not intended as a substitute for individual legal advice. a large NIH grant. Dr. Mitsumoto will be applying delivered. Regarding the content of our offerings and important too. Our website can only work if we build for an approximately million dollar grant for the PLS Under the best of circumstances, job hunting is services we plan an every member survey sometime in trust with our patient communities. Without the trust component of the project. His team will be taking probably the hardest job you’ll ever have. For anyone, the first half of 2010. Much has changed since the prior of our members, we would not be able to accomplish specimens and sending them to Dr. Teepu Siddique it requires energy and dogged persistence-keeping at it survey was done over 7 years ago in 2002. our mission to improve healthcare. Privacy is also a where he will look for abnormal proteins. in the face of rejection. A disability can make it even We believe Synapse is an effective way to communicate legal term and we have worked hard to develop a good tougher. Functional limitations may make some jobs nationally on a periodic basis, but here also we want This will be the first major PLS study. It will categorize policy. The entire privacy policy is on the website. impossible. You may need to find a unique job that will to find out how it could better fill a need. Wesee PLS patients better than has been possible in the past. accommodate your unique situation. Instead of merely does PatientsLikeMe sell my information? email as our most cost effective and quickest way What we are giving is just seed money for a much adapting to the workplace, you may need a workplace to communicate important announcements, yet we larger NIH funding. He suggests that we approve this Our goal is to create partnerships between patients and the companies that are developing products to that adapts to you. currently have email addresses for only 80% of the project as amended. Our project is $60,000 for first and help them. To do that we will take the information you Added to all of this is that ugly fact of life we’d like Synapse subscribers. $60,000 for the second year. It will be amended for a new start date from Sept 2009 to Sept 2010. entrust to us and sell it--in an anonymous, aggregated to forget: discrimination. Despite some real progress, We think the State Ambassadors have the potential to and individual format--to the companies that can many employers still have trouble seeing people with strengthen our organization by bringing the national In contrast to this project, Dr. Mary Kay Floeter’s use that data to improve or understand products or disabilities as part of the workforce. In your job hunt, agenda to the state level and adding a personal touch. PLS project has 23 people in it while this one will the disease market. We will not sell your personally you’re likely to encounter unfounded myths, fears, and Presently the COTF is contacting our 40 or so current have between 100 to 150 patients. Everybody in her identifiable information (like your name or contact stereotypes. The good news is that the law, particularly state ambassadors to see what ideas they have and project, she diagnoses with PLS. Every center in information) for marketing purposes or without your the Americans with Disabilities Act, offers some help. whether they are amenable to increased visibility and a Dr. Mitsumoto’s project will use the same diagnosis expressed permission. It hasn’t leveled the playing field. It hasn’t made job larger role in the SPF program. criteria. Both will follow patients for good number of Editor’s note: Right now, PLM is the most comprehensive PLS hunting easy. But you can improve your chances of years. data base and information source in the world both for patients and researchers. Thank you to the 230 who’ve signed up. To all of winning the job that’s right for you by being armed the others with PLS, please add your data today. with a little knowledge of how the laws work. 6 11 Events

2010 National Conference Saturday 10:15 a.m. Dr. Corey Braastad Medical Reports Programming Notes Betsy Baquet, editor had deletions in SPG4 and SPG6, of which two showed “Genetics and HSP/PLS testing” cognitive impairment. One member with SPG6 deletion Saturday 9:15 a.m. Dr. Braastad has worked at Athena Diagnostics in discovery of HSP related protein functions alone had neither HSP nor cognitive impairment. It was Keynote Speaker, Gary Karp Worcester, MA for 5 years and is currently a Scientist/ Troyer Syndrome is a form of HSP caused by a mutation concluded that cognitive decline and dementia is a feature of SPG4 HSP due to a deletion of exon 17 of the spastin gene. Manager of Operations. Athena Diagnostics is a in the SPG20 gene encoding spartin protein. The cellular “Life on Wheels” function of spartin and the knowledge about spartin SOURCE: http://health.groups.yahoo.com/group/PLSers-NEWS/message/4729 molecular genetics diagnostics company specializing in Gary is an internationally recognized interactors is very limited. A study was conducted to identify the diagnosis of rare neurological, renal and endocrine Axonal Transport is Key factor in Spastin public speaker, corporate trainer, novel spartin binding proteins and characterize potential Mutation HSP disorders. At Athena he has led teams that (1) develop spartin binding partners. 94 potential spartin-binding facilitator, author, and editor. He has It has been determined that the most common cause of HSP proteins were identified, and interactions with nucleolin and launch new diagnostic assays, (2) routinely run is mutations in the spastin gene. However, how this mutation been living — fully — with a T12 proteins, GRP78 And GRP75 were confirmed, as well as diagnostic tests on patient samples, and (3) improve induces the disease is still unclear. Spastin’s function plays spinal cord injury since 1973 when interaction with ubiquitin and ligases protein. These studies a significant role in axonal transport, deficits in which may the quality of diagnostic tests by improving result suggest that spartin is a multifunctional protein and, for the he was injured in a fall from a tree at underlie part of the disease process. Since there is no direct interpretation. He is currently leading efforts to first time, it suggests a role for spartin in protein folding and the age of eighteen. evidence supporting this, axonal transport was analyzed in a implement a DNA sequence variant investigation turnover both in mitochondria and endoplasmic reticulum. mouse with spastin-induced HSP. It was found that mutant For his unique and extensive contributions to disability It also shows, for the first time, interaction between spartin program and also a quality improvement program at spastin disrupts transport of mitochondria and membrane- and a nucleolar protein, nucleolin. awareness, in 2007 Gary was inducted into the Spinal Athena. Dr. Braastad received his undergraduate degree bound organelles in neurons. Where axonal swelling was Cord Injury Hall of Fame as a disability educator. from the University of Massachusetts Dartmouth. As SOURCE: http://health.groups.yahoo.com/group/PLSers-NEWS/message/4709 present, this disruption was exacerbated. These results Since his injury, Gary has earned a graduate degree in a graduate student at Brown University, he was in the Study in determining the function of the strongly support that defective axonal transport due to architecture, worked for eleven years in the presentation Molecular and Cellular Biology and Biochemistry Atlastin-1Protein spastin mutation plays a direct role in the development and disease process of HSP. graphics industry as a designer and production (MC&B) Department working on defining a DNA- Mutations in the SPG3A gene causes juvenile onset HSP. Atlstin-1 is the protein product of that gene. A study was SOURCE: pttp://health.groups.yahoo.com/group/PLSers-NEWS/message/4731 manager, then began providing ergonomics training damage inducible gene promoter. He then worked and consultation services to companies in the San conducted to better understand this protein’s function as a post-doctoral fellow at the University of and role in the Endoplasmic Reticulum (ER), which is an New “Antisense” Experimental Therapy Clinical Francisco Bay Area where he lives with his wife Paula Massachusetts Medical School in the Department of organelle that forms a lacey network of tubules, vescicles Trial Announced for familial ALS and their yellow Labrador Retriever, Nava Leah. and cisternae in the motor neuron cell. It was concluded The ALS Association is preparing for a clinical trial of a Cell Biology to define the cell-cycle regulated histone drug therapy in patients with familial ALS later this year. He is the author of three books: Life On Wheels: For H4 regulatory elements. that atlastin-1 might be implicated in membrane tabulation and vesiculation, and also participated in the formation Using an approach known as antisense, a drug is designed the Active Wheelchair User, Choosing a Wheelchair: and function of the ER. This shows significant progress to shut down the RNA (Ribonucleic acid) that is responsible A Guide For Optimal Independence, and Disability & Saturday 11:15 a.m. in determining the functions of the Atlastin protein in for the production of disease-causing proteins. Initial the Art of Kissing. For more information about Gary, Featured Speaker, Dr. John Fink neurons, which is a factor in understanding disease onset research in rat ALS disease models demonstrated that the and developing a cure. antisense drug inhibited the mutant SOD1 protein, resulting go to www.lifeonwheels.org “Current research and in prolonged life of the rats. Researchers hope that this SOURCE: http://health.groups.yahoo.com/group/PLSers-NEWS/message/4710 Gary is going to tailor his talk towards our group understanding of HSP and PLS--- therapeutic approach will provide a similar therapeutic - people who postpone the use of a cane or walker, What’s New and Exciting” frequency and phenotype of SPG11 and SPG15 benefit in people with familial ALS due to mutations in the SOD1 protein. The antisense approach could also prove until finding freedom in using these walking aids or in complicated hereditary spastic paraplegia. Dr. Fink has been the Scientific A recent study was conducted to compare the frequency valuable in treating other neurological disorders, such as a wheelchair. This is a bit different from his personal Medical Advisor for the SPF since of SPG11 and SPG15 mutations in patients with early Huntington’s disease. perspective of a single catastrophic incident that put our founding. After graduating in onset complicated HSP. It was found that thinning of the SOURCE: http://www.alsa.org/research/article.cfm?id=1525&CFID=4864788& him in a wheelchair. biology from the University of corpus callosum was considerably higher in patients with CFTOKEN=6788674f2572fc0d-7E372CC4-188B-2E62-8097B94AAD541D0A Cincinnati, and Medical School at SPG11. Additionally, several new variants were identified for SPG15. It was concluded that thinning of the corpus Two ALS drugs Show Early Promise the Medical College of Ohio, he trained as a neurologist Two experimental compounds under development by Support SPF with one Step a Month callosum is the best predictor for SPG11 and SPG15, and at the University of Virginia and in specialized aspects that there are no clinical features that could discriminate different drug companies have shown encouraging early th Consider making a monthly donation to help of neurology and medical genetics at the National between SPG11 and SPG15. Therefore, priority of genetic results, according to reports given at the 20 International Symposium on ALS/MND. They are identified as SPF move a step closer to a cure. Our One Institutes of Health. As a Professor of Neurology at testing should be driven by mutation frequency that Step a Month Program is a win-win! Recurring appears to be substantially higher in SPG11 than in SPG15. KNS760704 and SB509. the University of Michigan he directs the neurogenetic According to Knopp Neurosciences of Pittsburgh, PA, SOURCE: http://health.groups.yahoo.com/group/PLSers-NEWS/message/4723 gifts allow us to plan ahead with confidence, disorders program. He also studies genes that cause KNS760704 appears to protect nerve cells under stress. making sure we take the best steps towards these disorders, recently identifying two genes that dementia is a feature in SPG4 HSP The experimental drug is a molecular mirror image of finding the cures for HSP and PLS. Plus, cause forms of HSP, and is developing animal models Thirteen members of a family with SPG4 HSP known pramipexole, a prescription medication approved for the treatment of Parkinson’s disease and restless legs syndrome recurring donations allow you to give in a of these diseases, a pathway toward finding a cure. He to have a deletion of exon 17 in the spastin gene were convenient, safe and secure way. Go to cognitively assessed over a seven year period. Six out of under the trade names Mirapex and Sifrol. The company also trains physicians and scientists who are studying says these two mirror-image molecules have very different http://www.sp-foundation.org/donate.htm the 13 members showed cognitive decline. Two genetic these disorders. He was the recipient of an SPF research deletions were identified in 12 out of the 13, and infive properties. In phases 1 and 2 of the trial, patients showed a award in 2003 and again in 2006. members, there was a deletion in SPG6. Four members trend of slowed disease progression. The rate was slowed 4 13 more at higher doses, and at the highest dose, there was a Smoking raises risk of ALS trend toward survival benefit. The drug was found to be A new review of the medical literature confirms that National Conference Roundup SCHEDULE ~ SPF 2010 NATIONAL CONFERENCE safe and well-tolerated. Knopp is currently preparing for a smoking significantly raises the risk of developing ALS. phase 3 trial. A new analysis says that smoking, already suspected of fridAy, MAy 21, 2010 A report given at the symposium about trials of the being a risk factor for amyotrophic lateral sclerosis (ALS), experimental compound SB509 suggests the substance is definitely is one. Carmel Armon, professor of neurology at 3:00-5:00pm – Registration safe and well tolerated and also may have a positive effect Tufts University School of Medicine in Boston and chief of 5:00-5:45pm – Welcome cocktail reception cash bar on function in people with ALS. Approximately 30 percent neurology at Baystate Medical Center in Springfield, Mass., and simple hors d’oeuvres of people treated with the drug had improved manual muscle analyzed the medical literature published on smoking and 5:45-6:00pm – Welcome and Introductions by Craig function and showed improvement on the ALS Functional ALS between 2003 and April 2009. He initially identified 28 Rating Scale. Jeffrey Rothstein, who directs the MDA/ALS studies, only two of which were considered reliable enough Gentner Center at Johns Hopkins University in Baltimore, said the to be included in the final results, which were announced 6:00-7:00pm – Dinner, including dessert ability to maintain muscle strength or delay its deterioration Nov. 17, 2009, in the journal Neurology. In the two studies 7:00-7:15pm – Break could have a significant impact on quality of life for people announced, smokers increased their risk of developing with ALS. Sangamo Biosciences, located in Richmond, CA, ALS by 1.6 to 1.89 times the average. Also, the longer an 7:15-8:15pm – “Welcome to the Convention You’d is the drug developer, and is preparing for a phase 3 trial. individual smokes, the more likely they are to develop the Rather Not Qualify For” by Malin Dollinger and Craig SOURCE: http://quest.mda.org/news/two-als-drugs-show-early-promise disease. Those who smoked more than 33 years had more Gentner than a two-fold increased risk of getting ALS compared with 8:15pm – Instructions for Saturday “Toxic desert dust” Linked to ALS in Gulf War Vets those who never smoked. 8:15pm – Meeting rooms available for meet/greet/ In 2001, a government-funded study showed that military SOURCE: www.mda.org/publications/Quest/extra/nov09/stop-smoking.html personnel serving in the 1990-1991 Gulf War were nearly social time. You may take this opportunity to meet twice as likely to have developed ALS as were military first Human Embryonic Stem Cell Lines Approved new people, to discuss challenges and victories, and personnel who had not served in that war. New findings to get help with day-to-day living suggest a possible link between dust-dwelling bacterial for use under New NiH Guidelines toxins and an elevated incidence of ALS in Gulf War NIH Director Francis S. Collins, M.D., Ph.D., announced on veterans. The study blames cyanobacteria, microorganisms December 2 the approval of the first 13 human embryonic SATurdAy, MAy 22, 2010 stem cell (hESC) lines for use in NIH-funded research that live in desert sands and which can be inhaled when 8:00-9:00am – Registration Desk Open they’re kicked up in dust, such as when a convoy of military under the NIH Guidelines for Human Stem Cell Research vehicles rumbles by. Cyanobacteria are common throughout adopted in July 2009. Dr. Collins said. “In accordance 9:00am – Welcome by Craig Gentner the world in salt water, fresh water and soil. The new findings with the guidelines, these stem cell lines were derived from 9:15-10:15am – Keynote Address by Gary Karp “Life embryos that were donated under ethically sound informed generally support the theory that ALS may be caused by a on Wheels” combination of genetic predisposition and environmental consent processes. More lines are under review now, and we anticipate continuing to expand this list of responsibly 10:15-11:00am – “Genetics and HSP/PLS Testing” 5:00pm – Entire group gathers for closing remarks by exposures. derived lines eligible for NIH funding.” talk by Dr. Corey Braastad, Athena Diagnostics and Craig Gentner SOURCE: http://quest.mda.org/news/als-research-poison-dirt More than 30 NIH grants funded in the 2009 fiscal year SPF Board Member Dinner on your own – (There are 3 restaurants in the totaling more than $20 million proposed to use hESCs. 11:00-11:15am – Break After a two-year review, the fdA approves This group of grants includes research using hESCs for hotel and others nearby.) reopening a clinical trial of the experimental the therapeutic regeneration of diseased or damaged heart 11:15am-12:00pm – John Fink, M.D. “Current 7:00pm – Meeting rooms available for meet/greet/ compound arimoclomol. muscle cells, developing systems for the production of research and understanding of HSP and PLS--What’s social time. A clinical trial of an experimental drug for ALS -- halted neural stem cells and different types of neurons from hESCs New and Exciting” almost two years ago due to safety concerns –- has been in culture, and developing a cell culture system for the large 12:00-1:30pm – Lunch Exhibitors meet and greet SuNdAy, MAy 23, 2010 9:00-11:00am given the green light to continue with a revised protocol, scale production and self-renewal of hESCs. says CytRx Corp. of Los Angeles, the drug’s manufacturer. 1:30-2:30pm – “Get Fit While You Sit” Talk and 7:30am – State Ambassadors breakfast meeting led SOURCE: www.nih.gov/news/health/dec2009/od-02.htm The U.S. Food and Drug Administration placed a hold on Demonstration of Chair Yoga. by Linda Gentner the phase 2b trial of arimoclomol in January 2008, saying it 2:30-3:00pm – “SPF Research Grants, Funding, and 9:00am – Greeting by Craig and outline of today’s wanted to see more toxicity data from previously completed Scientists encouraged by new mouse model’s Our Scientific Review Process ~ How Contributions schedule animal studies. CytRx announced on Dec. 2, 2009, that it similarities to human ALS had received FDA permission to continue human testing. St. Louis, Oct. 9, 2009 — A new mouse model of ALS Will Become the Cure” by Mark Weber, Esq. SPF 9:15-10:00am – Simultaneous Breakout Sessions Board Member The new trial is not yet officially open, but it soon will closely resembles humans with the paralyzing disorder,  Stress Relief by Acupressure by Dr. Lenore begin recruiting participants. Arimoclomol represents a researchers at Washington University School of Medicine 3:00-3:15pm – Break in St. Louis report. The new genetically engineered mouse Dollinger new strategy in ALS — enhancement of molecules called 3:15-4:00pm – “Adaptation to Disability” by Gary “chaperones,” which help regulate cellular repair. According has a mutation in the gene for a protein called TDP-43.  Caregivers’ Time by Jim Campbell Karp to CytRx, arimoclomol can detect proteins that are misfolded Researchers at the University of Pennsylvania linked TDP-  Maximizing Your Abilities and potentially toxic and refold them into their correct, 43 to inherited forms of ALS in 2006. Like humans with 4:00-4:45pm – Simultaneous Breakout Sessions ALS, the mouse develops progressive paralysis; loses 10:00-10:45am – “Physical Therapy to Get You Moving” nontoxic shapes. A different phase 2-3 study of arimoclomol  Stress Relief by Acupressure by Dr. Lenore muscle mass and specific types of motor neurons, and dies 10:45-11:00am – Closing Remarks by Craig Gentner already is underway, focusing on the SOD1-related form of Dollinger familial ALS. It was not affected by the halting of the phase of the disorder. 11:00-11:30am – Check Out 2b arimoclomol trial in ALS. “As far as we know, this is the first mouse model that  Caregivers’ Time by Jim Campbell recapitulates ‘typical’ ALS to be produced in more than 11:00am-12:30pm – Lunch on your own SOURCE: http://quest.mda.org/news/als-drug-trial-restarted  Maximizing Your Abilities a decade,” says senior author Robert Baloh, M.D., Ph.D., 1:00pm – Start of bus tour for those signed up for tours 14 3 Editor’s Note: I welcome all Letters to the Editor, please e-mail me [email protected]. I will always print assistant professor of neurology. “That could make it very phenomenon may lead to promising alternative approaches your letters in the next issue. helpful for our efforts to better understand and identify to the gene therapies that are now a focus of study. treatments for this terrible disorder.” He further states The research was just published in Neurobiology of Disease, President’s Letter “TDP-43 is only the second gene to be linked to an a professional journal, by researchers from the Instituto from Mike Podanoffsky inherited form of ALS that appears clinically identical to Clemente Estable and the University of the Republic in sporadic ALS, and it’s very promising that this similarity Volume 13, Issue 1 - Winter 2010 Montevideo, Uruguay, and at Oregon State University. The The Tipping Point and National Conference 2010 allows the symptoms of sporadic ALS to be accurately research has been supported by the National Institutes of The Spastic Paraplegia Foundation Inc. (SPF) is a modeled in mice.” Health. “We know that environmental exposure to lead is n this issue you will read about national, not-for-profit, voluntary organization. It is The new mouse model may also provide an important tool a risk factor for ALS,” said Joseph Beckman, holder of the terrific plans we have for the I the only organization in the Americas dedicated for screening new drugs, according to Baloh. Scientists the Ava Helen Pauling Chair in the Linus Pauling Institute National Conference 2010. It will be to Primary Lateral Sclerosis (PLS) and Hereditary already have another mouse model of ALS with a mutation and director of the Environmental Health Sciences Center held at the LAX (Airport) Hilton in Spastic Paraplegia (HSP). in SOD1, the first gene to be linked to an inherited form at OSU. “That’s why it’s so surprising that, according Los Angeles, May 21 – 23, 2010. The of ALS with typical symptoms, but, according to Baloh, it to studies done with laboratory animals, higher levels conference will be focused more on Synapse Editors hasn’t always been the best tool for predicting if treatments of lead appear to significantly reduce motor neuron loss will work in humans. “If we use the two models together to and progression of ALS.” The levels of lead that were you and less on research, although Thurza Campbell ...... Senior Editor all presentations are important. I test potential treatments, though, that might provide us with therapeutic in the mice have toxic risk in adult humans, Betsy Baquet ...... Medical Research a much finer screen,” says Baloh. “This could help relieve the researchers pointed out. However, as more is learned look forward to meeting each and Sarah Roberts-Witt ...... Events every one of you there. some frustration in the field, because there are a number of about how lead is affecting ALS, alternatives to lead might new drugs ready to be tested in humans, and we urgently be found to accomplish the same goal. Published three times a year for the HSP/PLS This past summer I read The Tipping Point: How Little need ways to determine which should be tried first.” community Available online at www.sp-foundation.org SOURCE: www.eurekalert.org/pub_releases/2009-11/osu-hmp113009.php Things Can Make a Big Difference (by Malcolm Gladwell). SOURCE: www.eurekalert.org/pub_releases/2009-10/wuso-seb100909.php The book has been out for some time now. It describes how Corporate Address: Tiny molecule slows progression of Lou Gehrig’s a small effort can create a ripple effect that turns a tide. One Spastic Paraplegia Foundation Compound shows potential for slowing disease in mice example is how neighborhoods improve. It starts with a few 212 Farm Rd. Researchers at UT Southwestern Medical Center have found people who care. They set an example and others follow. At progression of ALS Sherborn, MA 01770-1622 that a molecule produced naturally by muscles in response some point the idea is so contagious that it is unstoppable. A chemical cousin of a drug currently used to treat sepsis to nerve damage can reduce symptoms and prolong life in Please Send Donations to: dramatically slows the progression of ALS in SOD1 mice. a mouse model of amyotrophic lateral sclerosis (ALS). The Tipping Point reminds me of the ripple that the Spastic In a paper published online Oct. 19 in the Journal of Spastic Paraplegia Foundation Paraplegia Foundation has started. A small research project Clinical Investigation, scientists studied the use of a form “We believe we can apply this research toward drug here, some ideas that need more work, a lesson learned here P.O. Box 1208 of an enzyme known as activated protein C, or APC, to development,” said Dr. Eric Olson, chairman of molecular and there, all set the stage for future research. Fortson, GA 31808 slow the cell death that occurs in ALS. They were able to biology at UT Southwestern and senior author of the study, extend the lifespan of mice with an aggressive form of the which appears in the Dec. 11 issue of Science. Please direct correspondence to: In The Third Wave and in Future Shock (by Alvin Toffler), disease significantly, by about 25 percent. The compound Spastic Paraplegia Foundation As muscles are damaged in ALS, they can “re-innervate” a futurist thinker of some note, the pace of new discoveries also extended the length of time that the mice were able themselves by prompting healthy nerves to send new 7700 Leesburg Pike, Ste 123 grows, accelerating with each new innovation. This can be to function well despite showing some symptoms of the branches their way. The molecule responsible for this is seen everywhere you look. The work of one scientist sets Falls Church, VA 22043 disease, and it reduced the pace of muscle wasting that is microRNA-206 (miR-206), but can only work for so long. the foundation for many scientists to follow, and their work (877) 773-4483 a hallmark of ALS. “While miR-206 initially prompts nearby surviving nerves sets the foundation for the scientists that follow them. [email protected] While the investigators say that more research must be done to send new branches to the muscles, it only delays the www.sp-foundation.org As this issue of Synapse goes to press it is December. You’ll before the enzyme is tested in people with the disease, they inevitable,” Dr. Olson said. “Our findings correlate with the observation in ALS patients that the disease is nearly read it in mid to late January. When you do, it is a great time SPF Board of Directors: are encouraged that the work involves a compound that has already been proven to be safe and is currently given to asymptomatic until a large fraction of motor neurons to reflect on these examples. The role of the SPF is to keep Mike Podanoffsky, President patients via a common injection for another condition. The has died, at which point the few remaining ones can’t the progress of research growing. Linda Gentner, Vice President team hopes to test a treatment in patients within five years. compensate sufficiently. These results provide a new Frank Davis, Secretary perspective on the mechanisms of ALS,” he said. “MiR-206 Want to change the SPF? Want it to serve you better? We’ll SOURCE: www.eurekalert.org/pub_releases/2009-10/uorm-csp101509.php David Lewis, Treasurer seems to sense nerve injury and promote regeneration.” publish the best ideas next issue. Send me email at ideas@ Members: Larry Asbury, Corey Braastad, PhD, sp-foundation.org. Kris Brocchini, Jim Campbell, Jean Chambers, RN, “Because miR-206 only exists in skeletal muscle, a drug Heavy metal paradox could point toward new based on it might not affect other tissues. That limits its For links mentioned in this publication, go to http://sp- Malin Dollinger, M.D., Ashton Hecker, Jim Sheorn, Mark Weber, Esq., therapy for Lou Gehrig’s disease risk of side effects and is a key part of its appeal as a foundation.org/synapse/1209. New discoveries have been made about how an elevated potential therapy.” SPF Medical Advisor: level of lead, which is a neurotoxic heavy metal, can slow TABLe oF CoNTeNTS PAgeS In collaboration with a company he co-founded, called the progression of ALS—findings that could point the way National Conference Roundup ...... 3-5 John K. Fink, M.D., University of Michigan miRagen Therapeutics, Dr. Olson is developing potential to a new type of therapy. SP Foundation News ...... 6 Disclaimer: The Spastic Paraplegia Foundation does not endorse drugs based on miR-206. Event Reports ...... 7-8 products, services or manufacturers. Those that are mentioned in The results surprised researchers, since lead is also a known SOURCE: www.eurekalert.org/pub_releases/2009-12/usmc-tms120309.php Living with HSP/PLS ...... 9-12 Synapse are included for your information. The SPF assumes no risk factor for ALS. This paradox is still not fully understood, liability whatsoever for the use or contents of any product or service and at this point would not form the basis for a therapy, as Caregiving ...... 12 mentioned in the newsletter. Medical Reports ...... 13-15 lead is toxic for the nervous system. But scientists say the 2 15 NON-PROFIT U.S. POSTAGE PAID SPASTIC PARAPLEGIA FOUNDATION

7700 Leesburg Pike, Ste 123 Falls Church, VA 22043

Volume 13, Issue 1 Winter, 2010

TeamWalkTeamWalk summariessummaries beginbegin onon PagePage 77

Sarah and Ronnie Face Off in SAWCAR Race Reserve your room at the LAX Hilton Today!!! Houston TeamWalk LA Nov 21 - Entire Group

Mark and Fred 2009 OKTW

The Autumn in Carolina, Gang’s All Here

SPFoundation National Conference - May 21-23, 2010 - Los Angeles, CA. Socializing at Call Loretta Baker at the LAX Hilton Hotel (310) 410-6143 Autumn in Carolina 2009 Oklahoma TeamWalk