UNITED MITOCHONDRIAL DISEASE FOUNDATION Mitochondrial news TWO UMDF FUNDED RESEARCH smoking engine), Enns found that patients with a CONTENTS mitochondrial disorder had their natural antioxidant GRANTS RESULT IN NEW defense system overtaxed by the free radicals. INFORMATION “Even when these patients are coming into the Ask The Mito DocSM clinic looking pretty healthy, they have evidence of 3 One of the main mission points for the United extra metabolic stress,” Enns said, noting the findings Mitochondrial Disease Foundation is research. Since were surprising because none of the patients were Chapter Activities 1996, the UMDF has funded more than $6 Million in in the midst of a health crisis, such as organ failure, 4 research projects aimed at finding better treatments, when blood samples were drawn. diagnosis and ultimately a cure for mitochondrial “It is the first time such signs have been Fundraising Highlights disease. That is why we are excited about two recent uniformly shown in the blood of patients across 5-7 research projects that received a wide range of mitochondrial partial funding from the UMDF disorders,” he added. The team Adult Corner Research Grant Program. saw that levels of glutathione, the 9 In 2004, Gregory Enns, MD, body’s primary antioxidant, were ChB, and his team from Stanford significantly reduced in white blood Advocacy University School of Medicine cells from the 20 mitochondrial 10 and Lucile Packard Children’s disease patients in the study. Hospital were the recipients of a A second finding gave the Announcements grant for a project that devised a researchers information on potential 12 much needed way to monitor and treatments. They found that patients find treatments for mitochondrial taking antioxidant supplements did disorders. The team discovered not have depleted glutathione. This a biological marker that can be research may help understand the used to monitor mitochondrial effectiveness of supplements for a mitochondrial disease patient. “As a diseases. Dr. Gregory Enns “When a car engine doesn’t clinician, one of the most frustrating work right, it smokes,” said Dr. Enns, who is a things has been not being sure if supplements are professor of pediatrics at Stanford University School doing any good.” said Enns. “Now we are able to take of Medicine and director of the biochemical genetics a baseline blood reading and see ‘before’ and ‘after’ program at Packard. “What we looked for is, in snapshots,” Enns says glutathione measurements essence, biochemical smoke.” could help with a diagnosis by giving physicians The finding will enable researchers to hunt for a clear indication that something is wrong in the treatments and help patients’ status before health mitochondria. crises erupt. Patients who have a mitochondrial The method that the Enns team used to measure disorder were compared with healthy people in a glutathione, called high-dimensional flow cytometry, control group. Since defective mitochondria produce has limitations: it requires fresh blood samples, uses large quantities of oxygen-free radicals (like a (continued on page 2)
The California Chapter held a family meeting prior to the 4th Annual Dinner and Silent Auction on March 7th. Pictured left is Norma Gibson, Brittany Wilkinson and Chuck Mohan. Volume 14 See pages 4-7 for Issue 1 more events and Spring 2009 fundraisers!
www.umdf.org | 8085 Saltsburg Road, Suite 201 | Pittsburgh, PA 15239 | P 888•317•UMDF (toll-free) | P 412•793•8077 | F 412•793•6477 | [email protected] From page one equipment only available in research labs and does by inactivating calcium-independent phospholipase not provide absolute glutathione measurements. A2, which prevents the degradation of cardiolipin,” Now that the team knows what metabolic change Dr. Ren told Mitochondrial News. His team’s method to look for, they’re working to develop a more broad would keep the cardiolipin levels normal. “This based measurement technique. is good news for patients because this enzyme In March 2009, researchers at NYU Langone (tafazzin) is now a potential target for therapeutic Medical Center announced that they may have intervention.” discovered a new targeted The research has not been National Office Staff intervention for Barth Syndrome tested in humans. Dr. Ren (BTHS). BTHS is a mitochondrial cautions that it shows promise Charles A. Mohan Jr., CEO/Executive Director disorder occurring mostly in but is still years away from being [email protected], ext. 111 males. BTHS leads to infection developed into a treatment. At Mark Campbell, Chief Financial Officer or heart failure in children and the present time, there are no [email protected], ext. 110 can be a fatal disease. Research treatments for Barth Syndrome lead by Mindong Ren, PhD, patients. Kara Strittmatter, Director of Member Services shows the benefits of a targeted As mentioned above, both [email protected], ext. 114 intervention with an iPLA2- projects were partially funded VIA inhibitor that prevents a by research grants from the Clifford Gorski, Director of Communications major symptom of the disease United Mitochondrial Disease [email protected], ext. 101 – cardiolipin deficiency. Foundation. “Those who support Carol Rush, PhD, Director of Development People affected with BTHS the UMDF through donations [email protected] have a defect in the cardiolipin Dr. Mindong Ren and fundraisers can now see metabolism which fights first hand how those dollars Scott Precopia, IT Manager infections. Additional symptoms may include a are allocated to the projects and programs that will [email protected], ext. 118 weak heart muscle, a reduction of white blood cells bring the best results for patients who suffer from Barbara Podowski, Administrative Assistant that fight bacterial infections, growth delay, and mitochondrial disorders,” said Charles A. Mohan, Jr., [email protected], ext. 100 an increase in organic acids in urine. In healthy Executive Director and CEO of the UMDF. “We are people, cardiolipin resides in the inner membrane of very excited about both projects as research moves Janet Owens, Executive Administrative Assistant the mitochondria and is responsible for normal cell us forward to a cure,” Mohan added. Findings from [email protected], ext. 107 structure and energy production. both projects demonstrate the urgency for federally BTHS is a debilitating heart and skeletal muscle funded research into mitochondrial dysfunction. Tania Hanscom, Communications Assistant disease that causes muscle weakness and fatigue “Dr. Enns and his research team have clearly shown [email protected], ext. 112 in those affected. Its cause is in a mutation in the that glutathione measurements may help scientists Bethany Neumeyer, Member Services Associate genetic coding of tafazzin. Tafazzin is an enzyme of unravel the causes of many other diseases with [email protected], ext. 104 the cardiolipin pathway. mitochondrial involvement such as poor vision, A previous study at NYU revealed the hearing loss, kidney disease, autism spectrum Melinda O’Toole, Member Services Associate characteristics of a tafazzin deficiency in a disorders, diabetes, Alzheimer’s, Parkinson’s and [email protected], ext. 103 fruit fly. The deficiency resulted in low and cancers. Our scientific and medical community Donna Nameth, Data Entry Manager abnormal cardiolipin concentration, abnormal has urged the Obama Administration to include [email protected], ext. 109 mitochondria, and poor motor function. In Dr. Ren’s research into mitochondrial medicine among his study, the research showed that the cardiolipin administration’s top medical and research priorities. Jean Bassett, Research Grants Coordinator deficiency disrupted the fruit fly’s final stage of UMDF members, families and friends must urge their [email protected], ext. 105 spermatogenesis causing male sterility. “Using congressional and senatorial representatives to do Ryan Fisher, Development Assistant this fly model, the study showed that this trait of the same.” [email protected], ext. 116 cardiolipin deficiency can be genetically suppressed Don Gielas, Grant Writer Gregory Enns, MB, ChB, was awarded a research grant in 2004 in the amount of [email protected], ext. 113 $34,179. His project was titled “GSH levels, reactive oxygen species production, Kylie Dunmire, Special Events Associate lipid peroxidation, products and mitochondrial membrane potential in patients with [email protected], ext. 108 mitochondrial disease.”
Mindong Ren, PhD, was awarded a research grant in 2007 in the amount of UMDF Mission $157,450. His project was titled “Genotype-Phenotype Correlation and Genetic To promote research and education for the Modifiers in Barth Syndrome.” diagnosis, treatment and cure of mitochondrial For more information on the UMDF Research Grant Program, visit www.umdf.org. disorders and to provide support to affected individuals and families.
2 MITOCHONDRIAL NEWS - Vol. 14, Issue 1 ASK THE MITO DOCSM organs or tissues, at least in the majority of cases. often see developmental regression when seizures However, whether the donation is blood, tissue become longer in duration and/or more frequent. or organs, mitochondrial disease will not spread So, this can influence toilet training. Maybe better to non-donated organs/tissues. Mitochondrial seizure control would allow him to learn how to use ASK THE disease is not “contagious.” In humans, genes do the toilet. I say this ‘tongue in cheek,’ as I take care of so many mitochondrial patients with intractable SM not “jump” from one person to another or from one organ/tissue to another. epilepsy. I do hope that you can toilet train your son in the near future. MITO DOC THE QUESTION IS... We have been trying to toilet train our 11 year THE QUESTION IS... old son for many years. He was in underwear I have heard that tests are run on patients in the iving with mitochondrial disease presents during day-time hours for one year and had hospital on the basis of money rather than quality. L many twists and turns and a maze of some success, but his seizures increased How can we be sure we are getting appropriate questions. UMDF is pleased to offer answers dramatically so we took a break. We started up quality testing? I work in a clinical diagnostic to some of those questions as taken from ? Ask again in late June and he seemed to be doing lab. In order to legally perform and offer testing, the Mito DocSM at UMDF.org. Please note that okay. Sometimes he would go into the bathroom the lab is required to follow protocol and perform information contained in Ask the Mito DocSM and void himself, only if we are at home. If we quality control procedures. Are the labs doing is for informational and educational purposes are away, he would just wet himself. Just three these tests required to do the same? only. Such information is not intended to replace weeks ago he stopped going into the bathroom RESPONSE FROM Sumit Parikh, MD: and should not be interpreted or relied upon on his own. He goes through these cycles where as professional advice, whether medical or You are correct in that most if not all labs that offer his output is much larger than his input. Some clinical testing in this country are certified by a otherwise. days it is the opposite where he is drinking a lot Responder for this issue: Richard G. Boles, national agency (CLIA) and are required to ensure a and not urinating much. Is this a mitochondrial level of quality, test reliability, etc. The vagary often MD, of Children’s Hospital Los Angeles, CA, disease thing? Russell Saneto, DO, PHD, of Children’s Hospital arises when we are dealing with interpretive testing and Regional Medical Center, WA, and Sumit RESPONSE FROM Russell P. Saneto, and/or testing that has the ability to offer differing Parikh, MD, of the Cleveland Clinic, OH. DO, PhD: levels of detection/results. Both of these issues are Output is usually related to input, so fluid in and especially true for metabolic tests. THE QUESTION IS... urine out. It is not always equal. For instance, if For example, amino acid analysis in blood Can a mitochondrial disease patient donate it is hot and we sweat, then urine output would or organic acid analysis in urine can 1) measure blood, tissue, or organs? Will he/she spread the decrease. If you lose fluid due to illness (i.e., fever) varying numbers of acids (from many to all); 2) disease to the recipient? then urine output would decrease. Sometimes, if detect each of the acids to a relative or exact level; RESPONSE FROM Richard G. Boles, there is a nervous system component to bladder 3) attempt to separate (or not separate) acids that MD: emptying, then output can be altered as the bladder show up in a similar region of the spectral scan; and Blood in circulation does not divide, so cannot empty by the usual neuronal inputs (i.e., 4) offer varying “depths” of interpretation depending mitochondrial disease cannot be passed on by a bladder stretching). Sometimes output can be on who the individual providing the interpretation is blood transfusion. However, since bone marrow seemingly greater than input if the bladder fills (there are “multiple elevations in a non-diagnostic failure is not uncommon in mitochondrial disease, without the person feeling the need to empty. pattern” OR “multiple elevations suggesting a post- and bone marrow is the tissue that makes blood, it Since mitochondrial disease can sometimes alter prandial sample, possible liver disease”). may take a while to rebuild the lost blood following sensation (bladder filling or ability to empty), then Unfortunately, regardless of whether the lab is donation. This likely will stress the donor, and thus this is a possibility. Medications can also influence offering a more or less “precise” set of results, they a blood donation could adversely affect the donor’s amount of outgoing fluid. However, without are all certified tests and can state they are offering own health. knowing more details, it is impossible to tell you comprehensive amino or organic acid analysis. The Regarding organ/tissue donation, the bone why this is happening to your son. lab offering the more precise data or interpretation marrow, liver, heart or kidneys from a mitochondrial Toilet training is sometimes more dependent on may charge more and the hospital contracting out disease patient might lead to mito-related the person needing to be trained than the person this test may not appreciate this added value. The problems in the recipient. For example, a non- doing the training. Certainly, some neurologically person ordering the test may not realize which lab is mitochondrial disease recipient (or mitochondrial impaired children never are toilet trained. Having better unless they read the “fine print” on how this disease recipient) of a heart transplant from a frequent seizures can also affect this process. We testing is actually performed at the lab. mitochondrial disease donor could develop mito- Submitting questions to Ask the Mito Most metabolic/genetic centers have the ability to pick and choose the better labs that perform related cardiomyopathy. The appropriateness of DocSM is a benefit of the UMDF “Energy” this test. Many metabolic/genetic physicians often mitochondrial disease patients as organ donors membership. If you are a member and has not been systematically studied, although I discard the lab-provided interpretation and interpret would like to submit a question, log in am aware of cases in which mitochondrial disease the numbers for themselves as well. So like most patients were rejected by physicians or agencies to the UMDF website using your user ID things in life, there are plenty of shades of gray for not being appropriate donors. and password. If you would like more when it comes to metabolic testing - and your way Thus, it is my opinion that mitochondrial information on becoming a member of of ensuring a more accurate set of results is by disease patients probably shouldn’t donate blood, the UMDF, email [email protected]. finding a knowledgeable physician. MITOCHONDRIAL NEWS - Vol. 14, Issue 1 3 CHAPTER ACTIVITIES Chapter notes
Atlanta Chapter • February 7, 2009. The third annual Christopher’s Heart Fun Run • January 11, 2009. Brian and Lorie Gassel ran in the Disney was held at Sam Houston Park in downtown Houston, TX. Activities Marathon at Walt Disney World in Orlando, FL. The couple raised more included a 5K run and one-mile walk along with children’s activities. than $17,000 for the UMDF in honor of their daughter, Morgan. Thank More than $80,000 was raised to benefit the UMDF. Thank you to the you to Brian and Lorie for making your Marathon for Morgan such a race committee for all of your hard work! success! • February 10, 2009. Lisa Tatum organized a Chili’s Gives Back for Mito event at the Chili’s restaurant in Alpahretta, GA. A total of 10% of the sales from the evening were donated to the UMDF. Thank you, Lisa, for organizing such a great fundraiser!
The third annual Christopher’s Heart Fun Run Indiana Chapter • February 28, 2009. The Indiana Chapter worked in conjunction with the Indiana Ice of the USHL to sell tickets for the annual Pack the House for Charity event. In return for their sales efforts, the Ice (Left to Right) Tori Bigelow 14, Alia Christian 14, Ali Bartlett 13, rewarded the UMDF with a monetary grant, as well as $5 for each and Samantha Podwalski 16 ticket they sold. A special thanks to Chris and Camille Gaughan for organizing this great event! • February 21, 2009. A night of live and inspirational music was held in honor of the Atlanta Chapter of the UMDF. The music was Ohio Chapter preformed by Tori, Alia, Ali and Samantha who are Cobb County high school students. The event had a $5 cover charge and proceeds were • December 20, 2008. IHRA Champion and UMDF member Mark donated to the UMDF. Thank you to everyone who was involved in Thomas sold autographed memorabilia at Motts Greenhouse in making this event a success! Louisville, OH. Proceeds from the event benfit the UMDF in honor of Mark’s daughter, Valarie. California Chapter • December 2008. For the month of December, 10% of the proceeds from spa sales were donated to the UMDF. The event was held in honor of Kyle Avila.
Carolina Foothills Chapter • February 21, 2009. The first annual Hope.Energy.Life Charity Golf Tournament and Family Fun Day was held at the Island West Golf Club in Bluffton, SC. The event was held in honor of Olivia Custer and raised over $20,000 for the UMDF. Thank you to the Custer family for your hard work on such a great event!
Houston Chapter • January 31, 2009. To raise money for their team participating in Christopher’s Heart Fun Run, Jane Troutner and friends worked with Chick-fil-A in Katy, TX, to hold a benefit night. Chick-fil-A donated 10% Hope.Energy.Life Charity Golf Tournament & Family Fun Day of the sales from the evening to the UMDF.
4 MITOCHONDRIAL NEWS - Vol. 14, Issue 1 Chapter Activities The UMDF welcomes the Middle Tennessee Chapter The United Mitochondrial Disease Foundation would like to introduce its 16th Chapter, Middle Tennessee. The Middle Tennessee Chapter was inducted on March 2, 2009. Chuck Mohan, UMDF CEO, and Kara Strittmatter, UMDF Director of Member Services, traveled to Tennessee in early March for the induction of the chapter. Joe Rice, UMDF Board Member, was also in attendance to congratulate Middle Tennessee on their Chapter Status. The chapter will be lead by Courtney Fellers as President, Jane Phillips as Vice President (assisted by Sarah Phillips), Fred Durham as Treasurer, Courey Elliott as Secretary, and Board Member Mendy Mazzo. The Chapter is privileged to have excellent local physician, corporate and community support and looks forward to serving the Middle Tennessee area. The Chapter’s first event was to host a family meeting and Grand Rounds at Vanderbilt Children’s Hospital on March 2, 2009. Dr. Sumit Courey Elliott, Courtney Fellers, Sarah Phillips, Fred Durham, Parikh of the Cleveland Clinic was the speaker at both meetings, and Jane Phillips and Mendy Mazzo Chuck Mohan spoke at the family meeting. The newly elected board has established aggressive goals for the first For information on starting a Chapter, Mito Group, or year, including but not limited to some new fundraising and awareness to become an Ambassador in your area, contact the events and special educational meetings. The chapter will continue to work with other UMDF Mito Groups across Tennessee and northern UMDF Member Services Department at Alabama to raise awareness, exchange information about upcoming 888-317-UMDF (8633). UMDF events and activities, and offer support to patients and families. To find a Chapter, Mito Group, or Ambassador in your If you would like to learn more about the Middle Tennessee Chapter, area visit www.umdf.org. contact [email protected] or visit www.umdf.org/midtennessee. gifts from the heart
• Marty Fischer hosted a holiday party on • Christine Lardon ran a marathon in the Outer December 5, 2008, in honor of Michael Banks, NC, in honor of Therese Garvin. She DiLorenzo. The proceeds from the event were collected pledges from friends and family and donated to the UMDF. Thank you, Marty, for was sponsored by a firehouse in Philadelphia, your support! PA. Christine said, “The pain I’ll endure • The National Honor Society at Minnechaug during this marathon is just a small testament Regional High School in Wilbraham, MA, held to the pain Therese and all mito patients feel their fourth annual Themed Basket Raffle during a normal day.” Thank you, Christine, Fundraiser. Thank you to all of the students for your support of Therese and the UMDF! and staff for their continued support of the • During the holiday season, “Doggie UMDF mission. Stockings” filled with dog treats and toys Girl Scout Troops 8544 and 152 • Girl Scout Troops 8544 and 152 from St. were sold to raise money for the UMDF. A • The employees at Fortuna Energy in Antoninus Church in Cincinnati, OH, sent total of $392 was donated in memory of Gina Horseheads, NY, held an in-house auction in a donation of $75 in honor of Ayden Mohan. in memory of Kaydon Kent. Proceeds were Hingsbergen. The girls took part in singing • Michelle Mohan recently celebrated her 16th donated to the UMDF. Christmas Carols on a cold winter night! A Birthday with friends and family. In lieu of special thank you to Hannah, Emma, Madison, • The UMDF staff has been participating gifts, Michelle requested that donations be Sarah, Ann Marie, Jessica, Sammy, Zoey, in “Dress Down Days” for the UMDF. On made to the UMDF. In total, more than $7,000 Sarah, Rebecca, and Mary Catherine! Thank designated days, the staff is permitted to was donated in her honor. Happy Sweet 16, you for your love and support of Ayden! wear jeans for a fee. Thank you to the staff Michelle! for your support! • The law firm of Ackerman, Link & Sartory in • On December 14, 2008, Sarah Franklin ran in West Palm Beach, FL, conducted a “Dress • Sholar and Maddie Petit made and sold the Honolulu Marathon in memory of Owen Down for Charity Day” in honor of Michael jewelry to raise money in honor of their Hollar, the son of Travis and Dena Hollar. and Christopher Link. As a result, $120 was cousin, Ellie Kovalcik. Sholar and Maddie Sarah raised $550 to date for the UMDF! donated to the UMDF! Thank you for your have raised a total of $134 for the UMDF! Thank you for your hard work Sarah! continued support! Great job, girls! Keep up the creativity!
MITOCHONDRIAL NEWS - Vol. 14, Issue 1 5 CHAPTERS, MITO GROUPS AND AMBASSADORS ALABAMA IOWA NORTH CAROLINA Ambassador – Crossville Ambassador – Huntsville/ Iowa Mito Group Tar Heel Mito Group Contact: Regina Norrod Madison County Contact: Kim Novy or Darla Klein Contact: Alison Holich or Heather Baudet E-mail: [email protected] Contact: Peggy Stolz Conti E-mail: [email protected] E-mail: [email protected] or [email protected] TEXAS E-mail: [email protected] or [email protected] ¶Houston Chapter Ambassador – Northern Iowa OHIO President: Deb Schindler- Boultinghouse ARIZONA Contact: Ronda Eick ¶Ohio Chapter – North East ¶Arizona Chapter E-mail: [email protected] E-mail: [email protected] President: Darcy Zehe President: Michael Schuffert E-mail: [email protected] Dallas Mito Group E-mail: [email protected] KENTUCKY ¶Central Ohio Chapter Contact: Tova Sido Ambassador – Louisville President: Matt Kovalcik E-mail: [email protected] CALIFORNIA Ambassador – McAllen ¶California Chapter Contact: Krystena Richards E-mail: [email protected] E-mail: [email protected] Cincinnati Mito Group Contact: Mayra Rivera President: Norma Gibson E-mail: [email protected] E-mail: [email protected] Contact: Jeff & Cindy Salt LOUISIANA E-mail: [email protected] Ambassador – Wichita Falls Chapter Ambassador – Sacramento Valley Southwest Louisiana Mito Group Contact: Shamayn Kennedy Contact: Valina Combs Dayton Mito Group Contact: Mary Ann West Contact: Terre Donoghue E-mail: [email protected] E-mail: [email protected] E-mail: [email protected] Chapter Ambassador – Southern California/ E-mail: [email protected] UTAH Inland Empire MARYLAND Ambassador – Southeast Ohio Ambassador – Utah/North Dakota Contact: E.J. & Debbie Fogel ¶DC/Baltimore Chapter Contact: Jody Thompson Contact: Lyn Taggart E-mail: [email protected] President: Dawn Murphy E-mail: [email protected] E-mail: [email protected] E-mail: [email protected] Ambassador – Toledo COLORADO Contact: Chris & Alisa Rawski VERMONT Denver Mito Group MASSACHUSETTS/CONNECTICUT E-mail: [email protected] Ambassador – Vermont Contact: Laura Marrs ¶New England Chapter Contact: MaryBeth LeFevre E-mail: [email protected] President: Heidi Bailey OKLAHOMA E-mail: [email protected] Ambassador – Southern Colorado E-mail: [email protected] Ambassador - Oklahoma Contact: Kyle & Katie Serfoss WASHINGTON Contact: Antoinette Bunce Pacific Northwest Mito Group/Washington E-mail: [email protected] MICHIGAN E-mail: [email protected] Western Michigan Mito Group Contact: Sue Ann Bube DELAWARE Contact: Michelle DeWitt OREGON Email: [email protected] Delaware Mito Group E-mail: [email protected] Pacific Northwest Mito Group/Oregon Ambassador – NW Washington Contact: Judy Weeks Contact: Gretta Cole or David Doyle Contact: Joy Krumdiack E-mail: [email protected] MINNESOTA E-mail: [email protected] E-mail: [email protected] ¶Minneapolis/St. Paul Chapter or [email protected] FLORIDA President: Ryan Walther WEST VIRGINIA North Central Florida Mito Group E-mail: [email protected] PENNSYLVANIA Ambassador – West Virginia Contact: Alicia Kaminski ¶Delaware Valley Chapter Contact: Stacy Spurlock E-mail: [email protected] MISSISSIPPI President: Therese Garvin E-mail: [email protected] Ambassador – Melbourne Greater Jackson Mito Group E-mail: [email protected] Contact: Julie Manley WISCONSIN Contact: Christine Golden Erie Mito Group Ambassador – Kimberly E-mail: [email protected] E-mail: [email protected] Contact: Kim Gesler Contact: Mindy Welhouse Ambassador – Orlando E-mail: [email protected] E-mail: [email protected] MISSOURI/KANSAS Pittsburgh Mito Group Contact: Jennifer Slauter ¶Kansas City Chapter Ambassador – LaCrosse/Eau Claire E-mail: [email protected] Contact: Karen Wilson or Heather Pallas Contact: Terilyn Peterson President: Pam Johnson E-mail: [email protected] Ambassador – South Florida E-mail: [email protected] E-mail: [email protected] Contact: Jennifer Clifton or [email protected] St. Louis Area Mito Group Ambassador – Plover/Steven’s Point E-mail: [email protected] Ambassador – Central Pennsylvania Contact: Angela Zutz Contact: Marsha Hohe Contact: Kim Olenderski E-mail: [email protected] E-mail: [email protected] GEORGIA E-mail: [email protected] Ambassador – Waukesha ¶Atlanta Area Chapter Contact: Anne Juhlmann President: Chris Swinn NEW JERSEY SOUTH CAROLINA Chapter Ambassador – Southern New Jersey E-mail: [email protected] E-mail: [email protected] ¶Carolina Foothills Chapter Contact: Sarah Slack President: Allison Rogers Southern Georgia/ E-mail: [email protected] INTERNATIONAL Northern Florida Mito Group E-mail: [email protected] Australia Mito Group Contact: Erin Willis NEW YORK Ambassador – Bluffton/Hilton Head Contact: Rob Ryan E-mail: [email protected] ¶New York Metro Chapter Contact: Tracy Custer E-mail: [email protected] E-mail: [email protected] Ambassador – Toronto/E. Ontario IDAHO President: Tom Shubeck E-mail: [email protected] Ambassador – Chapin Contact: Ken Graham Idaho Mito Group Contact: Karis Mott E-mail: [email protected] Contact: Jennifer Pfefferle Western New York Mito Group Contact: Vanessa Hartman E-mail: [email protected] Ambassador – Winnipeg E-mail: [email protected] Ambassador – Charleston E-mail: [email protected] President: Keely Schellenberg Contact: Addy Smoke INDIANA Ambassador – Albany E-mail: [email protected] E-mail: [email protected] ¶Indiana Chapter Contact: Jacqueline Perrotta Ambassador – United Kingdom Contact: Rowland Dicker President: Penny Hanlon E-mail: [email protected] TENNESSEE E-mail: [email protected] E-mail: [email protected] Ambassador – New Paltz ¶Middle Tennessee Chapter ILLINOIS Contact: Beth & James DeArce President: Courtney Fellers UMDF YOUTH AMBASSADORS ¶Chicago Area Chapter E-mail: [email protected] E-mail: [email protected] California President: Patrick Kelley Ambassador – Northern New York Memphis Area Mito Group Contact: Brittany Wilkinson E-mail: [email protected] Contact: Chrishelle & Kristopher Conlin Contact: Emily Culley or Karrie LaCroix E-mail: [email protected] Central Illinois Mito Group E-mail: [email protected] E-mail: [email protected] Georgia Contact: Crystal Smith Ambassador – Utica or [email protected] Contact: Emily Swinn E-mail: [email protected] Contact: Kimberly Dedrick East Tennessee Mito Group E-mail: [email protected] Ambassador – Springfield E-mail: [email protected] Contact: Kristie Goodwin New Jersey Contact: Patti Bauer E-mail: [email protected] Contact: Jamieson Smith E-mail: [email protected] E-mail: [email protected] 6 MITOCHONDRIAL NEWS - Vol. 14, Issue 1 UNITED MITOCHONDRIAL DISEASE FOUNDATION partners in progress MITO FACTS Racing again raise his activity level at home. He was surrounded by A Day in the Life of Peter Lubelczyk children and families dealing with conditions ranging from spina bifida, cerebral palsy and missing limbs to • Mitochondrial disease By: Juli Lubelczyk survivors of cancer, polio and other childhood diseases. results when there is a ow do you help a 10 year old accept the fact that He was inspired to make the best of his situation defect that reduces the he won’t walk or run again? That was our dilemma instead of feeling sorry for himself. The coaches ability of the mitochondria H a year ago. Peter, who has mitochondrial disease from offered half-day participation and willingly allowed rest to produce energy. PolG1 mutations, enjoyed a stable early childhood of and hydration as needed so he wasn’t overly fatigued. tee ball, golf, tag and playgrounds. But after a round In the fall, he started wheelchair basketball and • Mitochondrial disease can of status seizures at age 7, he began a slow decline as loved being part of a team. As he faced another school affect any organ of the body his ataxia and various neurological effects worsened. year needing more support with more declines, he and at any age. Finally, the day arrived when a wheelchair was needed could often be heard saying, “you should see me play for more than temporary support. basketball!” Feeling confident in his chair, he branched • Mitochondrial disease was out on his own and participated in a youth curling first recognized in an adult in league and was the only special needs attendee. the 1960’s and in the 1980’s His chair was no longer a liability but tool for for pediatric onset cases. success. Peter’s decline has continued so that team sports are now too confusing for him, though he still loves shooting hoops. Through a fundraiser, we purchased our own RaceRunner; and Peter uses it at school, qualifying for the 5 mile club in PE this year. At home, he enjoys getting out on the
Peter with his medal from the 2007 Bennett Blazers Track Fest The bouts of frustration were intense, and the degrading self talk was hard to hear. We spent time with counselors and did lots of talking, but what made the most difference during this transition was stumbling upon the Bennett Blazers. Run by Kennedy Krieger in Baltimore, Maryland, the Blazers are a sports program for physically challenged youth. Their motto: Teaching kids what they can do before they think they can’t. Peter on his RaceRunner That spring Peter started track. He used an adaptive piece of equipment new to the US called a weekends year round as weather allows and going for Petra or RaceRunner. Similar to a three wheeled bike walks in shady parks or early morning runs at a high in appearance, the frame has no gears or pedals. The school track over the summer. He’s excited about the athlete runs to propel the frame. The transformation in upcoming track season with the Blazers. Peter’s attitude was amazing as he once again had the Every day, more and more older children, teens, chance to run. He could be fast; he could compete; he and adults are being diagnosed with mitochondrial could win! He won every heat in his first track meet, disease. Many struggle with the often sudden loss and his self esteem soared. of abilities. Doctors emphasize the need to maintain That summer, he participated in their summer muscle strength and cardio health while paying careful Volume 14 camps and once again played golf, tennis, baseball, attention to fatigue levels. Adaptive sports programs Issue 1 volleyball, basketball, swam and even paddled a kayak can provide opportunities to maximize one’s health Spring 2009 around a pool. I learned techniques and modifications both physically and mentally. For my son, it provided to increase his involvement away from Bennett and (continued on page P3) www.umdf.org | 8085 Saltsburg Road, Suite 201 | Pittsburgh, PA 15239 | P 888•317•UMDF (toll-free) | P 412•793•8077 | F 412•793•6477 | [email protected] FROM THE CHAIRMAN
ince our last newsletter, Institutes of Health (NIH) Ssignificant developments for research — the largest UNITED MITOCHONDRIAL have happened in the field funding increase for NIH in 5 DISEASE FOUNDATION of mitochondrial medicine years. For the mitochondrial and research. Both of these community, this increase in Board of trustees developments have a common funding may bring scientific W. Dan Wright - Chairman link - the United Mitochondrial breakthroughs if some of this Sharon Shaw - Vice Chairman Disease Foundation. funding is directed towards Marty Lyman - Secretary Before Barack Obama mitochondrial research. We Richard W. Kubach Jr. - Treasurer walked out of the United States are hard at work to make Charles A. Mohan Jr. - Chair Emeritus Capitol Building and took the sure that they hear our Gerald A. Cook, Esq. oath of office, the UMDF was working quietly voice. We applaud Congress and the Obama John DiCecco behind the scenes to make sure the incoming administration for increasing funding into Salvatore DiMauro, MD administration was aware of mitochondrial scientific research that works to save lives. Amy Goldstein, MD disease. Rick Leach, a member of the UMDF This again emphasizes the importance of Leslie Heilman Board of Trustees and chairman of our having influence in Washington and why we Charles L. Hoppel, MD Governmental Affairs Committee, drafted an chose to have our next Symposium there. Richard Leach important letter to President Obama. The Please join us this summer to tell our story. Rob Platt letter was signed by more than 70 experts in Another example of how the UMDF Joseph Rice mitochondrial disease medicine. is working towards a cure can be found Chris Swinn In the letter, the scientific and medical in the latest news coming from Stanford Howard Zucker, MD, JD community called on the new administration University School of Medicine. In 2004, your to make good on a campaign promise. As contributions provided a research grant to Scientific & Medical you may recall, candidate Obama stated that Dr. Greg Enns through the UMDF’s Research Advisory Board he wanted to make an increased investment Grant Program. With that funding and grants Salvatore DiMauro, MD - Chairman in science and medicine. The letter urges from others, Dr. Enns and his team discovered Rod Capaldi, PhD the administration to fund research that a biological marker they can use to monitor David Chan, PhD will produce a greater understanding of mitochondrial diseases. The finding by Dr. Patrick Chinnery, PhD, MRCP the mitochondria, providing insights into Enns and his team will enable researchers to Bruce Cohen, MD treatments for a wide range of diseases and hunt for treatments and possibly help in the Greg Enns, MB, ChB conditions that affect millions of Americans. diagnosis of mitochondrial disorders. You can Ron Haller, MD The letter highlights the links between read more about his research in this edition Vamsi Mootha, MD mitochondrial dysfunction and Parkinson’s, of the newsletter. We are excited about the Carlos Moraes, PhD ALS, diabetes, Alzheimer’s, and many other research and congratulate Dr. Enns, who is Eric Shoubridge, PhD more common diseases. “We respectfully a current member of the UMDF’s Scientific Peter Stacpoole, PhD, MD urge your Administration to include research and Medical Advisory Board, and the rest of Anu Suomalainen, MD into mitochondrial medicine among your top his team. His hard work is part of our effort Mark Tarnopolsky, MD, PhD, FRCP(C) medical and research priorities,” the letter to bring us all closer to faster diagnosis and Kendall Wallace, PhD states. That letter was hand delivered to the a cure. This is just one of the positive results Massimo Zeviani, MD White House in January. that are coming from our research. Like At press time, we are awaiting a response planting seedlings, our research is beginning and will let you know when it is received. to grow into big trees. The letter by the scientific and medical You have heard me say before that I community is a great example of how the believe that treatments and drugs will be UMDF is working towards a cure. It was the coming in the near future. There are old UMDF that prepared the letter, provided the medicines and new ones alike that may prove information to the scientific and medical to be helpful in the future. I know that we are community, collected the signatures, and all experiencing economic problems right now, delivered the letter. And our work in this area but I believe that the future will be bright. is not finished. Since this letter was delivered to the Energy to all, President, Congress passed and the President made good on his promise by signing the American Recovery and Reinvestment Act of W. Dan Wright, UMDF Chairman 2009. This Act will provide a much needed Tucker & Skylar MacFiggin from California. $10 billion increase in funding for National Skylar is 4 years old and suffers from a mitochondrial disease. P2 PARTNERS IN PROGRESS - Vol. 14, Issue 1 Supporting our Cause UMDF SYMPOSIUM GRANT SUPPORT The UMDF has received a number of grants to support activities at the regular supporter of upcoming International Symposium in Washington, D.C. this June. We the Symposium. Their thank our funders to date and look forward to adding more before we gifts have enabled Mitochondrial Medicine gather in the nation’s capital. Our supporters are helping to provide many individuals, who 2009: Capitol Hill travel scholarships for families and speakers, critical programmatic might otherwise not support, and a special opportunity for teenagers attending this year’s get a chance, to attend Symposium. the annual gathering. The Pittsburgh-based Edith Trees Charitable Trust has provided a Travel scholarships grant to support the Symposium and more specifically to fund special from the Eberly gift will programming for teenagers affected by mitochondrial disease. Teens be restricted to patients Scientific: June 24-27 and families coming face difficult challenges as they deal with mitochondrial disease Family: June 26-27 personally, within their family, or through their affiliation with a from the Fayette County classmate who is affected. The mental and physical challenges that region of Pennsylvania. affect teenagers require special attention. Through the generosity of the The Foundation has long been associated with its support of the Edith Trees Charitable Trust, UMDF will be able to: programs and residents of Fayette County, just south of Pittsburgh. • Create specialized programming to address teenagers’ concerns GNC, headquartered in Pittsburgh, is the largest global specialty • Offer support and encouragement at a critical stage of development retailer of nutritional products, including vitamin, mineral, herbal and • Ease mental and emotional strains on teens facing mitochondrial other specialty supplements and sports nutrition, diet and energy disease products. GNC has provided support for Family Session programming • Provide opportunities for teens to meet and converse with those during the Symposium. who face similar challenges The NIH Office of Rare Diseases, through the National Institute • Support the annual Symposium in Washington DC of Environmental Health Sciences, has also awarded funding for • Extend opportunities for needy teens and their families to attend the programming and travel scholarships. This funding recognizes the Washington, D.C. Symposium strong links between mitochondrial disorders and many more well Funding from the Dominican Sisters Blessings Fund and the Eberly known diseases. Foundation will help to provide travel scholarships for needy individuals. Watch our web site at www.umdf.org/symposium for information The Dominican Sisters, through their Blessings Fund, have been a about new grant awards in anticipation of the Symposium.
Continued from page one a scaffold during tumultuous times as he struggled to accept his increasing www.kennedykrieger.org/kki_school.jsp?pid=1481&bl=1 limitations and still maintain his self esteem. The Bennett Blazers helped him National Center on Physical Activity and Disability focus on what he could do rather than what he couldn’t. They helped him see www.ncpad.com himself as a champion. Every person thrust into the battle against mitochondrial disease is a Wheelchair Sports, USA champion simply in how they fight to survive. Those around Mito kids, teens www.wusa.org and adults know that. But adaptive programs like these hopefully can help National Junior Disability Championships them see it for themselves as well. www.wnjdc2009.com Resources National Wheelchair Basketball Association Programs like the Bennett Blazers exist throughout the United States. The www.nwba.org National Center on Physical Activity and Disability website supplies links to Great Lakes Adaptive Sports Association programs in all 50 states and beyond. Here are some websites that cover www.glasa.org opportunities for both children and adults. There are also websites provided about the Race Runner which has gained huge popularity overseas with BlazeSports - Georgia interest growing in the United States. The ease of use makes it successful www.blazesports.org for a wide range of disabilities while targeting important core muscle groups San Diego Adaptive Sports Foundation such as the hips, legs, head and neck. Available in multiple sizes, it can be www.sdasf.org used by preschool children, adults and everyone in between. Coaches Gerry and Gwena Herman of the Bennett Blazers, instrumental in introducing the Adaptive Sports Center - Colorado RaceRunner to the US, are happy to provide more information as well. www.adaptivesports.org Bennett Blazers, Gerry and Gwena Herman RaceRunner links www.quest88.com/allability-racerunning/petra-running-bikes.html
PARTNERS IN PROGRESS - Vol. 14, Issue 1 p3 upcoming events
Carolina FOothills Chapter • May 9, 2009. The eighth annual Run will feature a 5K run, fun walk and kids • April 24-25, 2009. The fourth annual Wild for a Cure 5K Run and 1 Mike Walk run. For more information, visit www.umdf. Caroline’s on My Mind Weekend will once will be held at the Cleveland Metroparks org/stlouisrace. again feature a golf tournament, a 5K Zoo in Cleveland, OH. Last year, more than Pittsburgh Mito group Family Walk/Run and a BBQ/Band Party 3,000 participants took part and raised • May 2, 2009. In conjunction with the on Saturday evening. All proceeds will over $200,000 for the UMDF! For more Pittsburgh Pirates, the UMDF will be hosting benefit the UMDF through the Caroline information, visit www.runwildforacure.com. an awareness night at PNC Park when the Virginia Pulliam Mitochondrial Disease Fund. Cincinnati Mito Group Pirates take on the Cincinnati Reds. This For more information, please visit www. • April 18, 2009. Mito Mania will be held at opportunity will allow the UMDF to raise carolinesonmymind.com. St. Antonius Church in Cincinnati, OH. The money and awareness in the Pittsburgh area. Kansas City chapter event will feature dancing, a 50/50 raffle and For more information, contact Kylie at 888- • May 30, 2009. The sixth annual Mito What? silent auction to benefit the UMDF. For more 317-UMDF or visit www.umdf.org. Family Fun Run will be held at The Northland information, contact Shelly Hingsbergen at Around the Country [email protected] in Lake Waukomis, MO. The event will • May 11-15, 2009. The ninth annual Kites The family of Ayden Hingsbergen include a kids dash, family activities, music • 2009. for Kristen will be held at St. Daniel the is sending Ayden’s special friend “Toby by BJ the DJ, a silent auction and a raffle. Prophet School in Chicago, IL. Students will the Turtle” on a cross-country trip with For more information or to register, visit enjoy week long activities including a kite semi-truck drivers to raise awareness for www.umdf.org/kcmitowhat. decorating contest! Proceeds to benefit mitochondrial disease and the UMDF. Toby is • 2009. Louann Carnahan is a classical the UMDF through the Kristen Charleston a stuffed turtle who will be full of information pianist, medical student and an adult Research Fund. about the UMDF, mitochondrial disease and affected by MERRF. To create awareness OlliePalooza will be held at Ayden. Disposable cameras will also be sent • May 25, 2009. about “mito” and raise funds for research, Strata in New York City, NY in honor of Oliver along with Toby to track his journey across her CD titled “Louann Carahan, Piano Scheier. The evening will include food and America! Masterpieces” is available for purchase at drinks, as well as live and silent auctions. www.beatmito.com. For more information Iowa Mito Group For more information, visit www.umdf. contact Louann at [email protected]. • June 13, 2009. The third annual Myles org/olliepalozza. Ohio Chapter for a Cure Walk will be held at the Cedar • May 30, 2009. Landon’s Hope will be • April 3, 2009. The sixth annual Guest Valley Nature Trail in Cedar Falls, IA. The held at Eastman Park in Windsor, CO. This Bartender Night in honor of Kyle Kobunski event is held in honor of Myles Eick. For new event, organized by Tami Weatherby, will be held at the 82nd Street Grill and Pub more information, contact Ronda Eick at will feature a walk, activities for kids, in North Royalton, OH. Guest bartenders for [email protected]. refreshments, mitochondrial disease the evening will be Diane Kobunski and Anita resources, and much more! For more St. Louis Mito group information, please visit www.umdf.org/ Ripepi ,and all donations will benefit the • April 11, 2009. The sixth annual Family UMDF. For more information, contact John landonshope or contact Tami Weatherby at Fun Day will be held at the Shrine of Our [email protected]. Kobunski at [email protected]. Lady of the Snows in Belleville, IL. The event
NONPROFIT ORG. U.S. POSTAGE PAID Pittsburgh, Pa. Permit No. 4899 UMDF MISSION
To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.
www.umdf.org | 8085 Saltsburg Road, Suite 201 | Pittsburgh, PA 15239 | P 888•317•UMDF (toll-free) | P 412•793•8077 | F 412•793•6477 | [email protected] © 2007 United Mitochondrial Disease Foundation. All rights reserved. Partners in Progress is provided for informational purposes only, and UMDF assumes no liability for information provided herein. UMDF strongly recommends that you discuss any diagnoses, treatments or medications with your personal physician. FUNDRAISING HIGHLIGHTS Easy Ways to raise funds Fundraising is at the core of the UMDF’s Schools, churches ability to award research grants to the world’s and local youth ongoing fundraisers groups accept coin top mitochondrial specialists. Thanks to SM the dedication of our volunteers, the United collections for a Coins for a Cure Mitochondrial Disease Foundation raised over designated time The following families participated $1.7 million in the past fiscal year for life- period. The Coins in the Coins for a CureSM campaign and saving research and awareness.To build on for a CureSM program sent in funds raised in the months of that success, the UMDF needs YOU to increase shows children that December, January and February: awareness of mitochondrial disease in your they can make a community. A great way to educate others difference in the • Tom Arnold with Premier about mitochondrial disease is to organize a world through their Restaurants (KFC) fundraising event. actions, one penny, nickel or dime at a time. in honor of Bobby Arnold The UMDF has secure, lockable acrylic Goodsearch.com coin boxes that you can place in stores and • John DiCecco GoodSearch, powered by Yahoo, developed a businesses in your community. We also have in memory of Gina Mohan way to direct some of that money to the causes Coins for a CureSM Home Collection Boxes! you care about most. These boxes are made of cardboard and can • Bob & Denise Greenberger It’s easy...every time you search the internet be easily unfolded for mailing and assembled in memory of Jake Lyons at GoodSearch.com, the UMDF earns money, for your use. The Home Collection Boxes can and the more you search, the more dollars we • Drs. Ken Kanatani & Baker be used anywhere in your home where you Chambliss make to find better treatments and cures. Add find extra change, such as your laundry room, up the money generated from all your searches kitchen or bedroom. in honor of Joey Paulin and those done by millions of other people who The Special Events Department will provide • The Mohan Family we hope will use GoodSearch, and we can make you with sample flyers, collection stickers, in honor of Michelle Mohan a real difference to the people and causes that correspondence and support through the event need funds most. planning process. Register today at www.umdf. • Ribkens How does it work? org/coinsforacure. in memory of Gina Mohan Go to www.goodsearch.com, and in the “Who do you GoodSearch for” box, type in The Tea for MitoSM • St. Bernadette Catholic School United Mitochondrial Disease Foundation. Then This “virtual” tea party will be one of the in memory of Gina Mohan search the internet just like you normally would, easiest fundraisers you will ever do! The and a donation of one penny per search is UMDF will • The Towell Family contributed to the UMDF. provide you in honor of Ryan Towell with a Tea Goodshop.com for MitoSM Tea for MitoSM GoodSearch now offers a new feature called host/hostess The following family participated in GoodShop. Every time you click over to one of kit, including SM the partner merchants from the GoodShop site Tea for Mito and sent in funds raised invitation in the months of December, January, and then make a purchase, the UMDF earns cards, money. The more you shop, the more will be response cards, envelopes and tea bags. All February. donated to the UMDF! 100% of the donation you have to do is “invite” your family, friends, displayed on GoodShop will go to the UMDF! • The Carter Family acquaintances and co-workers to enjoy a cup in honor of Ian Trottier How does it work? of tea in the comfort of their own homes and Simply go to www.goodsearch.com, and support your cause with a donation to the click on the GoodShop link or go to www. UMDF! Register today at www.teaformito.com A special thank you to all of these goodshop.com. In the “Who do you GoodSearch families and to the families who are for” box, type in The United Mitochondrial 50 ways to fundraise still participating in Coins for a CureSM Disease Foundation. The ideas put forth in 50 Ways to Fundraise SM Next, click through to the GoodShop partner are a mere sample of what a little imagination and Tea for Mito ! can do. Put your own touch on one of these retailers and start shopping! A percentage of For information about how you can your purchase will go to the UMDF. ideas or create an entirely new fundraiser all on become involved, contact the special SM your own. The important thing is that you put Coins for a Cure the FUN in FUNdraising. No event is too big or events department at 888-317-UMDF It’s a very simple way to raise money for too small and every contribution brings HOPE. or [email protected]. mitochondrial disease research. It’s so easy ENERGY. LIFE. to a family in need. even a child can do it— and a lot of them do. MITOCHONDRIAL NEWS - Vol. 14, Issue 1 7 Member Resources Medical and Prescription Assistance Camp for All With growing health care costs, many people are finding themselves unable Camp for All provides week long camps, weekend retreats and day programs to afford doctor visits or prescriptions. The United Mitochondrial Disease for more than 55 different special needs groups. Camp for All is located in Foundation has complied a list of agencies that may be able to help. Burton, Texas. For more information, call 713-686-5666, email houstonoffice@ campforall.org, or visit www.campforall.org. NeedyMeds.com Needymeds.com is a non-profit with the mission of helping people who cannot Camp Korey at Carnation Farm afford medicine or health care costs. The information at Needymeds.com is Camp Korey is a “Hole in the Wall” medically-supervised camp where kids available free of charge. Needymeds.com provides information on Patient can attend for free. In the 2009 summer season, they are featuring their first Assistance Programs, Disease-Based Assistance, Free or Low Cost Clinics, mitochondrial disease camp. Camp Korey is located in Carnation, Washington. and State Programs. Note: Needymeds.com has information on medicine and For more information, call 425-788-1511, email [email protected], health care assistance programs only. They do not run patient assistance or visit www.campkorey.org. programs, supply medicine, or financial assistance. Visit www.needymeds. Canyon Ranch com for more information! Needymeds.com is a web-based organization and Canyon Ranch camp sessions through Dream Street Foundation are free currently does not offer a phone help line. of charge. Canyon Ranch is located near Tuscan, Arizona. For more Partnership for Prescription Assistance information, call 800-55-DREAM, email [email protected], or visit www. The Partnership for Prescription Assistance brings together America’s dreamstreetfoundation.org/campers.html. pharmaceutical companies, doctors, patient advocacy organizations and Dream Street Foundation community groups to help qualifying patients who lack prescription coverage The Dream Street Foundation’s purpose is to provide a unique camping get the medicines they need through the public or private program that’s right program, free of charge, to children with chronic or life-threatening diseases. for them. Many will get them free or at low cost! To access the Partnership for The Dream Street Foundation offers camps in California and Arizona. For more Prescription Assistance by phone call 1-888-4PPA-NOW (1-888-477-2669) or information, call 323-951-1227, email [email protected], or visit www. visit www.pparx.org. dreamstreetfoundation.org. Abbott Nutrition Hole in the Wall Camps Abbott Nutrition (formerly Ross) has a section of their website devoted to links The Association of Hole in the Wall Camps offer camps for seriously ill children for Medicare/Medicaid coverage, including nutritional & enteral products, by at no charge. The camps are spread out across the United States and around state. Visit http://abbottnutrition.com/home/third_party_coverage or call the the world. Visit www.holeinthewallcamps.org for a list of camps. For more Abbott Nutrition reimbursement help line at 1-800-558-7677. information, call 203-562-1203 or email [email protected]. Kiwanis Camps Songs of Love Many Kiwanis Clubs offer camps in their local area. Visit www.kiwanis.org to The Songs of Love Foundation is a nonprofit organization that provides find your local Kiwanis Club. personalized songs to children and teens that are facing medical, physical, and emotional challenges. The foundation produces these personalized songs, MDA Camps that are never duplicated, for your child FREE of charge! A patient’s parent, The Muscular Dystrophy Association supports nearly 90 camps across the legal guardian, or hospital staff member can request a song. Requesting country; these camps are for children with neuromuscular diseases. For more a song is very easy to do! You can request a profile sheet by calling the information and to find a camp near you, visit www.mda.org/clinics/camp. foundation at 1-800-960-SONG(7664). You can also visit www.songsoflove. The Woodlands org to fill out the form online or you could download and print the profile The Woodlands is open to all Pennsylvania residents and is committed to sheet. The profile sheet will ask you information regarding your child so the enriching the lives of children and adults with disability and chronic illness. songwriter can personalize the song. The information includes your child’s The Woodlands is located in Wexford, Pennsylvania. For more information, name, family, friends and pet names, along with your child’s hobbies, interests call 724-935-6533, email [email protected], or visit www. and the type of music your child enjoys listening to. woodlandsfoundation.org. Summer Camps The following web sites provide links to summer camps for all needs: With summer quickly approaching, now is the time to think about summer Kids Camps.com - www.kidscamps.com camps! The United Mitochondrial Disease Foundation has put together a list of Exceptional Parent - www.eparent.com summer camps that tailor to children with disabilities. Many of these camps American Camp Association - http://find.acacamps.org are free for children with life-threatening diseases to attend and have medical The Rhode Island Developmental Disabilities Council - www.riddc.org staff on hand in the event of an emergency. Camp Sunshine Camp Sunshine is a free camp for children with life-threatening diseases and their families. Their mission is to address the impact of a life threatening illness on every member of the immediate family. Camp Sunshine is located in Casco, Maine. For more information, call 207-655-3800, email info@ campsunshine.org or visit www.campsunshine.org.
8 MITOCHONDRIAL NEWS - Vol. 14, Issue 1 ADULT CORNER Adult Advisory Council Team Update t has been one year since the Adult Advisory AACT is also very proud to host the annual I Council Team (AACT) started working on Adult Gathering where adults and their families Adult Advisory Council behalf of our adult mitochondrial community. meet one another and hear AACT news and I would like to highlight our efforts under the updates. The Adult Gathering has now become Team (AACT) five arenas we developed that are the Council’s a very important part of the UMDF symposium. focus and direction: Sharon Shaw, AACT Chair, Arizona Nominations are now being accepted Gail Wehling, AACT Co-Chair, Illinois 1. Marketing, Communications & Collateral for the UMDF LEAP Award. The LEAP award is presented annually at the symposium Bob Brieff, New York We have audited all existing brochures, Marge Calabrese, Arizona pamphlets and flyers ensuring that the word banquet to an affected adult who is living “adult” is included and that adult issues are with mitochondrial disease in a positive and Linda Cooper, California mentioned alongside child issues. We continue productive way. So, please think about that Rev. David Hamm, Maryland to ask for personal adult stories to print in this adult you know deserving of this award and Pam Johnson, MD, Kansas City newsletter and on our web site. nominate them today! Cynthia Rosen, New Mexico Catherine Stefanavage, Georgia 2. Website & Internet 5. New Materials Please take a look at the “For Adults” Calling All Adults! Please check out the Dan Stout, Kentucky section of the UMDF website; we have added revised adult questionnaire available online. Gregory Yellen, Maryland numerous resources for adults. There are links If you have not completed and submitted to to resources on disability information, patient the UMDF, please do so. Your comments and Medical Advisors: rights, and national and state resources with feedback are very important for the council and the work we are currently doing. Every Bruce H. Cohen, MD specific article links addressing many adult Amy Goldstein, MD issues. questionnaire is read and passed along to the UMDF. The questionnaire has become a 3. Outreach & Education communication link from you to the council, In the last eight months, we have been which helps us to better assist the UMDF AACT Mission developing an Adult Resource Guide that will be national office in representing you, the adult To ensure equal representation and available online. It will include adult-specific mitochondrial patient community. service of the affected adult community resources, such as medical doctors that see to the affected pediatric community -- adult mitochondrial patients, medical centers in Lastly, we wish to stress the importance of sending in your advocacy letter. Your and to better represent, serve and assist the United States that have proper diagnostic adults with mitochondrial disease. labs, and information on how to navigate in the involvement is critical and will assist the medical world. UMDF’s efforts this June when we storm the Hill in Washington, DC! We have also created an Adult Liaison National Network. We have already appointed We count on your feedback, and we are nine adult individuals who will act as a liaison here to serve and represent you; together we between AACT and the adult community to have more energy – thank you! disseminate important and useful information. Our goal is to continue adding to this network. Yours in service, If you know someone who might be interested in serving in this capacity and would like more information, please contact our council! We Sharon Shaw are very excited about our AACT Adult Liaison Chair, Adult Advisory Council Team (AACT) National Network!
4. UMDF Symposium Heidi Martin-Coleman & her service dog, Mercury Our council reviews all adult symposium evaluation forms that are turned into the UMDF at the end of the symposium. The Calling All adult mitochondrial patients! evaluation forms provide vital and useful Mitochondrial News Needs YOU! Please consider submitting an article on feedback regarding the adult sessions and the symposium in general. All feedback and your experiences with a specific topic that would be of interest to other adults comments received are forwarded to the UMDF with mitochondrial disease. If you want to contribute, please contact UMDF at for future consideration. [email protected] or 888-317-UMDF. We look forward to hearing from you!
MITOCHONDRIAL NEWS - Vol. 14, Issue 1 9 Advocacy Mitochondrial medicine 2009: Capitol Hill
Day on the Hill Senate to be familiar with mitochondrial disease and not hear about it for the For nearly a year, a large portion of our advocacy effort has concentrated first time in Washington, DC on June 25th. on our June 25, 2009, visit to Capitol Hill. Last summer in Indianapolis, we Are you going to attend our Day on the Hill? outlined some very specific action items that you, your family and friends The UMDF needs to know for a couple of reasons. We need to make sure we could do as part of our effort leading up to visits on Capitol Hill. This column have enough transportation from the Sheraton Premiere to Capitol Hill. We will will serve as a final checklist to help your voice to be heard on behalf of the need to know if you or anyone in your party has special needs during our visit thousands affected by mitochondrial disease. to the Hill. Lastly, we need to make the appointment for you with your House Have you advocated by letter, fax or email? and Senate member or their representative. We ask that you complete a We’ve made advocating a very simple online process. From the front page on simple survey that is online and can be accessed by following this link: https:// the UMDF website, click “Advocacy Action Center.” You will be taken to a page www.surveymonkey.com/s.aspx?sm=7_2fJT0RFgcX7DSdQkgWYyMQ_3d_3d. that will enable you to show your support for additional research by sending a If you do not have computer access, call the UMDF National Office at 888-317- letter, fax or email to your House or Senate member. If you don’t have a user UMDF (8633) and ask our communications department for a hard copy of the name or password, simply sign up online. It’s free and doesn’t automatically “Day on the Hill” survey. We will be happy to mail it to you. make you, your friends or family members of the UMDF. MOST IMPORTANT: The online survey or printed survey must be completed Have you followed up with a meeting with your House or Senate and returned to the UMDF national office byApril 30, 2009. It could take four member or their staff in your home district? to six weeks to get a meeting with a representative of the House or Senate. These meetings are important because it gives you an opportunity to meet If you do not complete the survey online or via the mail, we won’t have face to face with your representatives to educate them about mitochondrial transportation or be able to set up a meeting for you. disease and the effect it has had on you or your family. It is an educational session for them or their staff members. Even if you are not planning to attend This is going to be a great day to let our voices call for more research dollars. the symposium, the letters and the face to face meetings on the local level We hope to see you there! help those who are planning to attend. We want members of the House and advocacy - how are we doing?
We thought you might be interested in knowing the progress we’re making on educating our members of the US House and Senate about the need for more Mitochondrial disease Awareness Week research dollars to study mitochondrial issues at the NIH level. Our advocacy effort began in June 2008 in Indianapolis, IN. It was there we showed you the September 20-26, 2009 new “Advocacy Tool Kit.” In September, we put the toolkit online and showed you how to make your voice heard through the Action Center. We urged you We need your help to designate a nationwide to log in and send a letter to your elected official or to send a letter to your Mitochondrial Disease Awareness Week local newspaper editor. With the dawn of a new administration, we gave you a third opportunity to advocate. Our scientific and medical community sent a letter to President Obama urging him to make good on his promise to fund What can you do? medical and scientific research. We gave you the opportunity to join the effort Contact your local Senator or Representative today! through the Action Center. The UMDF Board of Trustees set a strategic goal to have 1000 members take an advocacy action by April 1, 2009. We surpassed Start to plan an awareness activity during that goal in December, 2008. For that, we thank you! But, we’re not done. Awareness Week! We still need you to send your letter through the Action Center if you have not done so already. Not sure what to do? Here is a list of the top 5 states Here is a list of the bottom 5 1 - Pennsylvania 1 - Hawaii Log on to www.umdf.org to download the 2 - Ohio 2 - Alaska Awareness Week “Toolkit”, and learn how to get 3 - Indiana 3 - Montana started with sample letters, a sample bill template 4 - Georgia 4 - Nevada 5 - California 5 - New Mexico, Utah, Oregon, South and letter writing tips! Dakota, New Hampshire, Delaware Still need help? You can see the complete list at www.umdf.org. Under the Energy section, you will find Advocacy Actions State by State. We will update this online on a Contact the UMDF at 888-317-UMDF or email weekly basis! [email protected].
10 MITOCHONDRIAL NEWS - Vol. 14, Issue 1 Symposium 2009
The United Mitochondrial Disease Foundation, The Mitochondrial Medicine Society, The Mitochondria Research Society, Mitochondrial Physiology Society (MiP2009) and The Cleveland Clinic
Present Mitochondrial Medicine 2009:
Capitol Hill
Sheraton Premiere at Tysons Corner Vienna, Virginia - Washington, DC area Scientific Program June 24-27, 2009 - Family Program June 26-27, 2009 Capitol Hill Visit - June 25, 2009
Registration brochures are being mailed soon, and online registration is available at www.umdf.org!
(MiP2009)
MITOCHONDRIAL NEWS - Vol. 14, Issue 1 11 ANNOUNCEMENTS
Entertainment Book Fundraiser New membership levels The UMDF is offering the 2009 Entertainment Books for sale! Now is The UMDF announced in January the addition of a basic, free the time to purchase your 2009 Entertainment Books ~ save money membership for individuals interested in joining the UMDF. The free on things you do every day and support the UMDF at the same time. “HOPE” membership is designed to increase the number of members Dine, shop, travel and SAVE! Buy Entertainment Books for yourself or who belong to the UMDF while offering information to individuals and as gifts. Entertainment Books are available throughout the country in families about mitochondrial disease. The “Hope” membership will more than 150 editions. Type http://www.entertainment.com/discount/ allow individuals to retrieve electronic information from the UMDF ?groupID=642223 into your web browser to order an Entertainment website that is not available to the general public. These include online Book close to home. Entertainment Books will be shipped directly to access to the UMDF Newsletter archives, online versions of MITO101 your house at no additional cost. The UMDF will receive a percentage of and MitoFIRST, online access to pre-recorded webinars, advocacy each book purchased! opportunities, and regular e-blasts from the UMDF. The free “Hope” membership is valued at $300! Plates with purpose Riverside Design Group, located in Members who support the UMDF annually at the $50 level will Pittsburgh, PA, continues to help now be included in the “ENERGY” membership level. The “ENERGY” the UMDF raise money for research membership will continue to have access to all areas of the website and through the sales of Plates with enjoy enhanced benefits. These benefits include the ability to submit Purpose. The UMDF receives 15% questions to Ask the Mito DocSM, the latest UMDF Newsletter delivered from the sale of the UMDF ladybug to your email account (will be mailed on special cases; contact the design plate! The UMDF plate design UMDF), the ability to participate in MITO Connect, the ability to watch is in memory of Morgan Reynolds, and participate in live webinars, a mailed copy of MITO 101, and a new who loved lady bugs very much. You member packet, if desired. The “ENERGY” membership is valued at can purchase your special UMDF over $800! ladybug design plate through the Plates with Purpose website at www. For more information, visit www.umdf.org or call 888-317-UMDF. plateswithpurpose.com. For more information on Plates with Purpose, contact [email protected]. To date, Plates with Purpose has SUBMISSION DEADLINE FOR VOLUME 14 ISSUE 2 IS donated $1,453 to the UMDF. APRIL 30, 2009!
NONPROFIT ORG. U.S. POSTAGE PAID Pittsburgh, Pa. Permit No. 4899
IN THIS ISSUE:
UMDF Grant Recipients make exciting breakthrough! Read page 1!
Potty Training Issues? See page 3!
What’s new in my area? Check out pages 4-7!
Mitochondrial Medicine 2009: Capitol Hill Find out more on page 11!
www.umdf.org | 8085 Saltsburg Road, Suite 201 | Pittsburgh, PA 15239 | P 888•317•UMDF (toll-free) | P 412•793•8077 | F 412•793•6477 | [email protected] UMDF.s intent is to keep you informed - we ask that you always discuss any diagnoses, treatments, or medications with your personal physician. UMDF assumes no liability for any information in the Mitochondrial News.