On Tuesday, April 27th, attendees of the 2010 FightSMA Annual Conference in Washington, DC visited over 70 Congressional offices on behalf of the SMA Treatment Acceleration Act. Families and friends shared information about spinal muscular atrophy (SMA) and the SMA Treatment Acceleration Act (HR 2149, S 1158) with their Congressmen and Senators and encouraged them to cosponsor this historic and paramount legislation.

If you and your family were unable to attend the FightSMA Annual Conference, but would like to advocate for the SMA Treatment Acceleration Act, THIS IS YOUR CHANCE!

Below is a list of Congressional offices that were visited on Tuesday, April 27th. If you recognize your Members’ name(s) on this list, please reach out to them! Thank them for meeting with representatives from your district or state, and reiterate just how important this legislation is to you. Be sure to check THOMAS (http://thomas.loc.gov) to see if your Member is a cosponsor of HR 2149/S 1158. If so, please thank them for cosponsoring, and ask them to reach out to their colleagues to encourage them to cosponsor as well.

If they are not yet a cosponsor, tell them just how important this legislation is to you and ask them to join the growing list of Members of Congress who are in favor of this legislation that will take SMA research over the finish line.

We have indicated whether it was a Member meeting, or fielded by members of the respective Member’s legislative team. If you have any questions, or would like further assistance in contacting your Members of Congress, please contact Caroline Gibson (carolinegibson@fightsma.com, 804-515-0080).

Here’s to seeing the SMA Treatment Acceleration Act cross the finish line!!

House Meetings
Frank Kratovil (MD)- Staff Meeting
John Sarbanes (MD)- Member and Staff Meeting
Kathy Castor (FL)- Member Meeting
Steve Israel (NY)- Staff Meeting
Mike McMahon (NY)- Member Meeting
Yvette Clarke (NY)- Member Meeting
Carolyn Maloney (NY)- Staff Meeting
Elliot Engel (NY)- Member and Staff Meeting
Frank Pallone (NJ)- Staff Meeting
Pat Tiberi (OH)- Member and Staff Meeting
Jim Jordon (OH)- Staff Meeting
Mary Jo Kilroy (OH)- Staff Meeting
Blaine Luetkemeyer (MO)- Member Meeting
Rob Wittman (VA)- Member Meeting
Frank Wolf (VA)- Member Meeting
Glenn Nye (VA)- Member and Staff Meeting
Eric Cantor (VA)- Staff Meeting
Michael Michaud (ME)- Member Meeting
Virginia Foxx (NC)- Member Meeting
Mel Watt (NC)- Staff Meeting
Jan Schakowsky (IL)- Staff Meeting
Daniel Lipinski (IL)- Staff Meeting
Patrick Kennedy (RI)- Member and Staff Meeting
Jim Langevin (RI)- Member and Staff Meeting
Gregg Harper (MS)- Member Meeting
Gene Taylor (MS)- Staff Meeting
Travis Childers (MS)- Staff Meeting
Martin Heinrich (NM)- Staff Meeting
John Shadegg (AZ)- Staff Meeting
Cliff Stearns (FL)- Staff Meeting
Jay Inslee (WA)- Staff Meeting

Senate Meetings
Ben Cardin (MD)- Staff Meeting
Tom Carper (DE)- Staff Meeting
Ted Kaufman (DE)- Staff Meeting
Bill Nelson (FL)- Staff Meeting
George LeMieux (FL)- Staff Meeting
Orrin Hatch (UT)- Staff Meeting
Chuck Schumer (NY)- Staff Meeting
Kirsten Gillibrand (NY)- Staff Meeting
Frank Lautenberg (NJ)- Staff Meeting
Robert Menendez (NJ)- Staff Meeting
George Voinovich (OH)- Staff Meeting
Sherrod Brown (OH)- Staff Meeting
Johnny Isakson (GA)- Staff Meeting
Kit Bond (MO)- Staff Meeting
Mark Warner (VA)- Staff and Member Coffee
Jim Webb (VA)- Staff Meeting
Olympia Snow (ME)- Staff Meeting
Richard Burr (NC)- Member Meeting
Kay Hagan (NC)- Member Meeting
Roland Burris (IL)- Staff Meeting
Richard Durbin (IL)- Staff Meeting
Sheldon Whitehouse (RI)- Member Meeting
Jack Reed (RI)- Member Meeting
Thad Cochran (MS)- Member Meeting
Tom Udall (NM)- Staff Meeting
Jeff Bingaman (NM)- Staff Meeting

The 2010 FightSMA Annual Conference, entitled “The Good Fight,” opened in yesterday, April 25th, at the L’Enfant Plaza Hotel in Washington, D.C with an international collection of researchers gathering to discuss spinal muscular atrophy (SMA) and related sciences. FightSMA’s Science Director, Dr. Chris Lorson, started off the meeting with a brief introduction before attendees heard from Dr. Kathy Swoboda from the University of Utah, Dr. Rashmi Kothary from Ottawa Health Research Institute, Dr. Livio Pellizzoni from the Columbia University Center for Motor Neuron Biology and Disease, and Dr. Allison Ebert University of Wisconsin-Madison. After dinner, Dr. Charlotte Sumner of the Johns Hopkins University School of Medicine, Dr. Barrington Burnett of National Institute of Neurological Disorders and Stroke, and Dr. Michael Sendtner from the University of Wurzburg (Germany). Topics of the evening included SMA clinical trials, mouse models, and iPS cells.

The researchers’ portion of the conference resumes today with additional presentations and discussions wrapping up shortly before the families and friends portion opens at 5:00PM with an introduction by FightSMA’s president, Martha Slay, and a Science Update by Dr. Lorson. This and the “Thriving with SMA” panel will be available by webcast, free of charge, for families and caregivers unable to attend the conference in person.

In less than two weeks, FightSMA will be returning to Washington, D.C. to host the 2010 FightSMA Annual Conference: The Good Fight. This meeting provides a unique setting for researchers investigating spinal muscular atrophy (SMA) and related conditions to discuss their work openly and chart a path forward. The Good Fight also brings together SMA patients, families, friends, and caregivers to learn about research being conducted around the world and to hear from health care professionals in fields important to the day-to-day lives of SMA patients.

The economy, illness, and other hardships can make travel difficult, or even impossible, for some. This is why FightSMA is pleased to once again offer SMA families, friends, doctors, and caregivers a way to access some of the content remotely. The Science Update by Dr. Chris Lorson (April 26th at 5:00PM EST) and the Thriving with SMA panel (April 26th at 6:30PM EST) will be available by live webcast. This access is offered for free by FightSMA and its conference sponsors. There is no limit to the number of viewers, and so, we ask you to share this information with other families affected by SMA and with your health care providers who would like to learn more about the disease.

For those who want to simply view the video, just visit the FightSMA Website. Anyone who would like to access the chat feature to ask questions will need to create an account on UStream, the video streaming service being used for the webcast. We recommend that viewers create their accounts and open the viewing webpage ahead of time to ensure that none of the presentations are missed.

We are very excited about our conference and anticipate an encouraging and very informative time together. We hope that you will attend and encourage your friends and health care providers to join us as well.

Dr. Mary Schorth is widely known and respected by those in the spinal muscular atrophy (SMA) community. She is a Pediatric Pulmonologist at the University of Wisconsin’s American Family Children’s Hospital and is the Director of the Pediatric Pulmonary Center Training Grant. Building strong bonds with families around the country, she has been instrumental in the development and advancement of respiratory care for children with spinal muscular atrophy. According to Dr. Schroth, “if they get good respiratory care early on, they will live a long life.”

American Family Children’s Hospital recently profiled Dr. Schroth’s work with Sophia Doebbert, one of her patients with type 1 SMA. Sophia’s parents credit Dr. Schroth with providing them with the hope and the tools to care for their daughter, who is now eight years old. Click here to view the video.

In addition to treating SMA patients, Dr. Schroth has managed clinical trials, participated in the “Thriving with SMA” panel at the FightSMA Annual Conference, and contributed to the development of the Consensus Statement for Standard of Care in Spinal Muscular Atrophy. She also developed a pediatric multidisciplinary clinic for patients with neuromuscular disease, incorporating pediatric rehabilitation medicine and pediatric orthopedic surgery.

From the press release by Cold Spring Harbor Laboratory:

November 4, 2009

Researchers identify drug candidate for treating spinal muscular atrophy

Cold Spring Harbor, N.Y. – A chemical cousin of the common antibiotic tetracycline might be useful in treating spinal muscular atrophy (SMA), a currently incurable disease that is the leading genetic cause of death in infants. This is the finding of a research collaboration involving Adrian Krainer, Ph.D., of Cold Spring Harbor Laboratory (CSHL) and scientists from Paratek Pharmaceuticals and Rosalind Franklin University of Medicine and Science.

SMA is caused by mutations in a gene called Survival of Motor Neuron 1 (SMN1), resulting in a decrease in the levels of SMN protein in the motor neurons of the spinal cord – the cells that control muscle activity. Without the protein, these neurons degenerate, and infants born with the mutations progressively lose the ability to move, swallow, and breathe. There are no approved therapies for the treatment of SMA, which affects approximately 1 in 6,000 babies born in the United States.

The new molecule boosts the levels of SMN protein in cells by fixing a mistake in a cellular processing mechanism called RNA splicing. In a study that will appear in the journal Science Translational Medicine on November 4th, the scientists report this fix in both mouse models of SMA, as well as in cells isolated from SMA patients.

Unlike previously identified molecules that stimulate SMN production, the tetracycline-like compound is a unique therapeutic candidate in that it is a small molecule that specifically alters RNA splicing by directly targeting the splicing reaction.

To read the full press release, click here.

To read the abstract of the study, click here.

Dr. Adrian Krainer is a friend of FightSMA and a regular speaker at FightSMA’s Annual Conference. At the 2009 FightSMA Annual Conference, he spoke on subject of splicing and SMA.

Exceptional Parent Magazine, a publication for families and professionals in the special needs community, recently posted on their website a piece about the 2009 FightSMA Annual Conference that was held in April this year.

The 2009 FightSMA Annual Conference in Review
Sep 24, 2009

During the 2009 FightSMA Annual Conference the energy was actually palpable! Excitement, camaraderie and a renewed sense of determination pulsed through each of us. The large conference room at the L’Enfant Plaza Hotel in Washington, DC hosted a collection of amazingly dedicated people, sharing the same goal and focus: eradicating Spinal Muscular Atrophy (SMA), the number-one genetic killer of children under the age of two.

Advocates from Utah to New Jersey, from Georgia to New Mexico, gather together each year to join forces, share information, and celebrate their important mission. Researchers from across the country and often the world come together year after year to share new discoveries and developments, some even unpublished, with these eager families and friends whose lives have been affected by Spinal Muscular Atrophy. And, every year we march as one to Capitol Hill, sharing with our nation’s leaders the importance of this little-known, but wicked disease.

The 2009 FightSMA Conference was monumental: the SMA community had a bill in Congress for the first time in history, and they had a specific request for each Senator and Congressman, which was to cosponsor this legislation. The bill, the SMA Treatment Acceleration Act (HR 2149, S 1158), is currently in its second Congress and all of our community has been working tirelessly on a grassroots level to get this legislation passed.

To read the full article, click here. Registration required.

Over the weekend, the Rankin Ledger ran an article about the Horton Family of Flowood, Mississippi. Jeff and Dee Horton took up the fight against Spinal Muscular Atrophy after their daughter Evie was diagnosed with the disease and as you may know from previous blog posts, they have been leading efforts to gain support from Mississippi’s Senators and Representatives for the SMA Treatment Acceleration Act, visiting Capitol Hill during the 2009 FightSMA Annual Conference in Washington, DC.

In the article, Jeff describes what lead them to become concerned. He said, “At one year, Evie was able to stand, cruise furniture and grab onto fingers of adults….We just weren’t seeing progress in Evie six months later. She wasn’t walking without assistance and seemed scared to walk on her own. The real alarm was when we saw her on the floor, lifting her legs with her hands to move them.” Despite her struggles, Evie is a beautiful, happy little girl who “talks up a storm and loves to sing.”

Click here to read the full article.

FightSMA is proud to announce the dates of the 2010 Annual Conference: The Good Fight. The Researchers Conference will be held April 25-26 and will gather select researchers and scientists in an intimate setting to discuss the most recent research and clinical trials through presentations and open dialogue. The Families and Friends Conference will be held April 26-28 and will include a lay-friendly science briefing with Q&A, “Thriving with SMA” panel discussion, one-on-one consultations with panelists, and visits to Capitol Hill.

More information will be posted as it is available on the conference’s webpage: www.fightsma.org/index.php?annual_meeting_2010. For more information about past FightSMA conferences or about spinal muscular atrophy (SMA), visit www.FightSMA.org.

The 2009 FightSMA Annual Conference featured a number of firsts, including the first-ever webcast of the event. Now, the video from that webcast is available for online viewing and download! You can watch it on the Conference 2009 page here at FightSMA. Just follow this link: FightSMA Annual Conference 2009

The Virginian-Pilot newspaper printed a story Sunday about the family leading FightSMA’s chapter in Virginia Beach, Virginia. The article touched on aspects that many families affected by spinal muscular atrophy (SMA) face: the shock of the diagnosis, the struggle to fight the disease, and the loss of a child. But, the article also recognized the promise and hope brought about by research being done around the country and the need for the fight to continue.

The Saville Family openly speaks about their experience of learning their daughter Morgan had SMA, of raising awareness and funding, of seeking treatment, and of her death in 2005. They also discuss how their efforts to defeat SMA have been renewed following their new baby’s birth, diagnosis, and enrollment in Dr. Kathy Swoboda’s pre-symptomatic study, funded in part by FightSMA. Stacy Saville and her son, accompanied by Virginian-Pilot photographer Genevieve Ross, attended the FightSMA Annual Conference in April and traveled to Capitol Hill to advocate for the SMA Treatment Acceleration Act.

To read the full article, click here. Below is a lovely slide show that the paper also put together.