After their daughter Evie was diagnosed with spinal muscular atrophy (SMA), Jeff and Dee Horton perceived a lack of knowledge and awareness of SMA in their community and even among many doctors. Desiring to do everything in their power to help Evie and others like her, the Hortons founded Stop SMA, a non-profit dedicated to battling SMA.

Now, Stop SMA is in the running to raise $250,000 for SMA research through the Pepsi Refresh Project. As of today, Stop SMA sits in 4th place among $250,000 candidates, but they need to be one of the top two when the end of the month rolls around to qualify for funding. Supporters can help move Stop SMA up the list by voting each day in March and asking their friends and family to do the same.

FightSMA representatives Martha Slay and Caroline Gibson traveled to Washington, D.C. earlier this week, to garner support and cosponsors for the SMA Treatment Acceleration Act (HR 2149, S 1158).

As the healthcare debate continues in Congress, we are working hard to keep our message and our mission front and center on Capitol Hill: the passage of the first-ever federal legislation dedicated to spinal muscular atrophy.

Because the Energy & Commerce committee is the committee of jurisdiction in the House, FightSMA visited Committee Members offices, sharing information on the bill with Health Staff, as well as signatures from PetitionToCureSMA.com.

Offices Visited
Rep. Mike Ross (AR)
Rep. John Barrow (GA)
Rep. Mike Doyle (PA)
Rep. Charlie Melancon (LA)
Rep. Tim Murphy (PA)
Rep. Cliff Stearns (FL)
Rep. Edward Markey (MA)
Rep. Eliot Engel (NY)
Rep. John Dingell (MI)
Rep. Zach Space (OH)
Rep. Baron Hill (IN)
Rep. Bart Stupak (MI)
Rep. Nathan Deal (GA)

In addition to House Energy & Commerce Committee Member offices, FightSMA also visited in Congressman Patrick Kennedy and Congressman Eric Cantor’s offices, our lead House sponsors, to thank them for their hard work and dedication to finding a cure for SMA.

Click here for more information on the SMA Treatment Acceleration Act.

Click here to sign the Petition To Cure SMA.

To contact your Members of Congress, please contact CarolineGibson@FightSMA.com

If I had my way, there’d be a swimming pool in everybody’s backyard. - Dr. Bob Leshner, M.D.

In this preview of the new FightSMA / Metro Productions sponsored webisodes, “Fighting Back,” FightSMA President Martha Slay interviews Dr. Alex Mackenzie (Children’s Hospital of Eastern Ontario) and Dr. Robert Leshner (Children’s National Medical Center), asking a few questions that are on the minds of spinal muscular atrophy (SMA) parents everywhere.

Click the above video to watch the interview, and keep logging on to FightSMA.org for more interviews, video content, and more!

Thank you to Metro Productions, our partners in this fight, for their generous gifts of time and expertise in the pro bono production of these videos.

At only 12 years old, Erinne Williams is already an inspiration to a lot of people. She was diagnosed with spinal muscular atrophy (SMA) at 14 months of age and doctors predicted she wouldn’t live beyond her 8th birthday. Because of SMA, Erinne has endured more than most of her peers, including multiple hospitalizations and surgeries. While the wheelchair she depends on is plainly visible, the metal rods in her back that help to counteract scoliosis are not. In addition, Erinne depends on a ventilator to help her breathe and a feeding tube to help her eat. But, despite having a disease that progressively weakens her muscles and she knows will some day take her life, today, Erinne is a seventh grader who enjoys playing wheelchair sports like hockey, soccer, and baseball.

Erinne has made such an impact on her community, that it has even rallied around her and her family - literally. A pep rally was help at Erinne’s school as part of an attempt to convince the producers of the tv show “Extreme Makeover: Home Edition” to help Williams family obtain a wheelchair accessible house. The application to the show is pending.

To read more about Erinne, click here or here.

To see footage about Erinne, click here.

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.

Seven year old Kiley McClay, pictured left, has spinal muscular atrophy (SMA). Because of muscle weakness, she gets around using a power wheelchair and receives help from her assistance service dog, Billy. And last month, Kiley made her big screen debut in the film “Extraordinary Measures.” Along with other children who use wheelchairs, Kiley was an extra in the movie. She appears for only seconds, but it was long enough for a close-up. According to Kiley’s mom, Rozie, “It’s not very long, but they showed her a couple of times, and at one point, she was on the whole screen.”

While the film is not about SMA, a story about parents pushing for research into a cure for the rare, neuromuscular disease affecting their children connected with Kiley’s parents, advocates for SMA research themselves. “Families and scientists and doctors are all working closely,” Rozie said. “In the movie, they end up getting a treatment, which is awesome. We’d also settle for a treatment.”

Read more, by clicking here.

The National Institutes of Health (NIH) has released funding information for 218 areas during the 2009 fiscal year. The table titled, “Estimates of Funding for Various Diseases, Conditions, and Research Areas,” shows the total funds spent in each category based on grants, contracts, and research conducted in the NIH’s own laboratories and clinics. The 218 categories included in the chart represent diseases, conditions, and research areas historically requested by and reported to Congress and the public at the end of each fiscal year. The NIH website specified that this “does not reflect the entire NIH research portfolio and budget,” that is does not “impact the way the NIH funds research or determines its research priorities”, and “does not change the way the NIH makes awards throughout the year for medical research.”

According to the chart, NIH spent $14 million on spinal muscular atrophy (SMA) research in fiscal year 2009, thanks in part to funding provided by the American Recovery & Reinvestment Act. The chart also estimates that SMA will remain at that funding level in fiscal year 2010.

Click here to view the entire “Estimates of Funding for Various Diseases, Conditions, and Research Areas” table.

From the FDA’s Office of Orphan Products Development and NIH’s Office of Rare Diseases Research:

The Office of Rare Diseases Research at the US National Institutes of Health (NIH), and the Office of Orphan Products Development at the US Food and Drug Administration (FDA), are pleased to announce the 2010 edition of their collaboratively developed course, “The Science of Small Clinical Trials.” This is a broad survey course (not a high-level statistical seminar), which is intended to heighten awareness of the methods that exist to design and analyze clinical trials using small numbers of participants. An inescapable necessity when dealing with rare diseases, the use of small trials is also rising in prominence in the context of tissue transplantation, advanced prosthetics, and individualized pharmacogenomics.

The first edition of the course, offered in 2009, was restricted to FDA and NIH staff. The 2010 edition of the course has been revised (based upon comments from 2009 participants), and is now open to ANYONE who wishes to register. The course comprises 7 2-hour lectures, presented at the Lister Hill Center Auditorium on the NIH campus in Bethesda, MD, from 16 February through 8 March, 2010; the lectures will also be available online via the Internet, live and by delayed on-demand video streaming (using freely available RealPlayer software), allowing anyone with a good Internet connection and appropriate computer to participate (questions from remote attendees will be received via a live text chat room, or via a discussion forum, on a web site dedicated to the course).

ALL participants must register. An optional self-administered open-book On- line examination will be provided at the end of the course, and individuals who pass this examination will receive a certificate from FDA’s Office of Orphan Products Development.

For more information about the course, and online registration, visit: http://small-trials.keenminds.org.

According to the course’s website, “the target audience is professionals interested in drug/device evaluation and regulatory affairs.” Currently, on-site attendance is full, so those wishing to participate must via the internet.

Today, Friday, January 22nd, is the last day to cast your vote in support of Spinal Muscular Atrophy research in the Chase Community Giving campaign on Facebook.

The charity that receives the most votes will win the top prize of $1 Million and five runners-up will get $100,000 each. The Gwendolyn Strong Foundation (GSF) is trying hard to hold on to 6th place - a $100,000 eligible position.

GSF has pledge to give 100% to SMA awareness and research deemed most promising by the SMA community. Within 90 days after winning the Chase Community Giving prize, GSF will execute a unique online voting campaign and distribute all funds to the winning programs recommended by prominent and committed SMA scientists and voted most important by the SMA community. Thanks to the first round of voting, the Gwendolyn Strong Foundation (GSF) won $25,000 which has already been distributed to research.

You can only vote for the GSF once, so in order for SMA to have a chance at this critical funding, we need you to not only vote on Facebook, but get your friends and family involved as well.

Go to http://VoteForSMA.com to vote and to learn more.

Thanks to previous votes, the Gwendolyn Strong Foundation (GSF) won $25,000 for Spinal Muscular Atrophy (SMA) research in the Chase Community Giving campaign on Facebook. Now, for only one week from January 15th to January 22nd, SMA has an opportunity to win much, much more!

The charity that receives the most votes will win the top prize of $1 Million and five runners-up will get $100,000 each. GSF has pledge to give 100% to SMA awareness and research deemed most promising by the SMA community. Within 90 days after winning the Chase Community Giving prize, GSF will execute a unique online voting campaign and distribute all funds to the winning programs recommended by prominent and committed SMA scientists and voted most important by the SMA community. You can only vote for the Gwendolyn Strong Foundation once, so in order for SMA to have a chance at this critical funding, we need you to not only vote on Facebook, but get your friends and family involved as well. Go to http://VoteForSMA.com to vote and to learn more.