The University of Wisconsin Pediatric Pulmonary Center is sponsoring a free workshop open to parents, family members, and caregivers of children with spinal muscular atrophy (SMA). Presenters Mary Schroth, MD; Karen Patterson, PT; Krista Kienitz, OT; and Mary Marcus, MS, RD, CSP will discuss topics including “Pulmonary Issues in SMA,” “Physical Therapy/Occupational Therapy - What’s Best for Your Child,” and “Nutrition Issues in SMA.” Continental breakfast and lunch included.

Time: August 15, 2009 from 8:30am to 1:30pm

Location: University of Wisconsin Hospital and Clinics, Room G5/152

Registration Deadline: July 31, 2009

To register for the workshop, email Kate Kowalski, MSSW, Administrator and Family Involvement Faculty at kmkowalski@pediatrics.wisc.edu with the following information:

Attendee’s Name(s)
Child’s Name
Address
Home Phone Number
Cell Phone Number
Email Address

Genetic testing can be an incredible tool, but it can be difficult to understand how it works and what to expect.  We’re honored to have as our guest on the latest episode of Fighting Back Podcast, Dr. Joann Bodurtha, a geneticist from Virginia Commonwealth University Medical Center in Richmond, Virginia.  She explains how these tests can be important for parents and parents-to-be.

To listen to this episode, you can use the Flash mp3 player above, load the Fighting Back Podcast Feed into your favorite feed reader, subscribe via iTunes or other podcast directories, or simply use the download link above to load the file onto your computer.  If you have feedback, a comment or question, or are interested in having Fighting Back tell your story, please contact page! You can also leave a message in the form of a comment on this blog as well.

To join the Thumb Drive, please donate using this card (pdf), or by clicking here.

On June 20th, Joshua’s Buddies, FightSMA’s chapter in Troy, Michigan, held its 10th Annual 5K Run/Walk/Roll to raise funds for Spinal Muscular Atrophy (SMA) research. Despite concerns about rain, crowds turned out to show their support of the fight against SMA - the #1 genetic killer of children under the age of two.

Thank you to the Cueter family (pictured below) and all their supporters for 10 great years!

Greetings SMA families, researchers and friends:

First and foremost, thank you for all you have done to help us increase awareness and attention to finding a treatment or cure for Spinal Muscular Atrophy (SMA). We are especially grateful to all of you who have taken the time to contact your Members of Congress in support of The SMA Treatment Acceleration Act of 2009 (H.R. 2149/S. 1158).

Thanks to our grassroots efforts, 17 Members of the House of Representatives and 4 Senators have now signed on to the SMA legislation. In order to keep this bill moving through the legislative process, we need to continue to grow the number of cosponsors of the bill. Our goal during the next two months is to encourage previous cosponsors from the 110th Congress to sign on to the bill again, while at the same time adding new members to the ranks. A list of our current cosponsors, as well as our target House and Senate cosponsors from the 110th Congress, are provided below. More than ever, we need your help! PLEASE contact your Members of Congress to ask them to cosponsor the SMA Treatment Acceleration Act.

Additionally, the July 4th recess which begins next Monday, June 29th is an ideal time for families to arrange meetings with their Senators and Representatives in their state and district offices. District meetings offer a unique opportunity in the middle of Congress’s long summer work period to focus Members’ attention on the SMA bill while they are away from the constant demands of their work on healthcare reform and other issues in Washington. PLEASE contact your Senators and Member of Congress’ state and district offices and request to meet with them over the July 4th recess.

As most of you are aware, the SMA Treatment Acceleration Act of 2009, introduced in the U.S. House of Representatives by Congressmen Patrick Kennedy (RI) and Eric Cantor (VA) and in the U.S. Senate by Senators Debbie Stabenow (MI) and Johnny Isakson (GA), provides federal support to complement the substantial private funding that is being invested to find a treatment for SMA. Passage of this landmark legislation will enable scientific investigators to mount national clinical trials and demonstrate that potential treatments are safe and effective for SMA patients.

THANK YOU AGAIN for your help for all those with SMA!

Sincerely,

NOTE: For more information on the “The SMA Treatment Acceleration Act” please contact any one of our Government Affairs staff:
Spencer Perlman, Families of SMA, spencer@fsma.org
Caroline Gibson, FightSMA, carolinegibson@fightsma.com
Annie Kennedy, MDA, akennedy@mdausa.org
Laura Lay, SMA Foundation, llay@wswdc.com

111th Congress Co-Sponsors
As of June 26, 2009

House of Representatives

Senate

To download this update, click here

Patrick’s Buddies’ 3rd Annual Rubber Duck Race was a tremendous success! Held Sunday, June 7, 2009 at Mindowaskin Park in Westfield, NJ, the race is estimated to have raised between $13,000 and $14,000 for spinal muscular atrophy (SMA) research. According to Maureen Higgins, head of the New Jersey chapter of FightSMA, the generosity shown by their supporters is extremely impressive given the charities in their area have been suffering during the economic downturn.

Recognition must be given to the employees of PTC Therapeutics for their tremendous support. Headquartered in South Plainfield, NJ, they had a “gaggleometer” in the office to tally their donations, which reached close to $1,000 from the individual employees! One of the PTC scientists who works on SMA, Amal Dakka, attended the event and helped Patrick give the signal to dump the ducks in the water at the start line. Maureen said, “I was very excited to have their support. It’s great that our supporters can see an actual scientists who benefits from this crazy duck race we throw every year!”

Taking advantage of its proximity to Washington, FightSMA visited Capitol Hill June 8th and 9th. Martha Slay, President of FightSMA, and Caroline Gibson, FightSMA Public Affairs Coordinator, traveled to Washington to advocate on behalf of the SMA Treatment Acceleration Act. They were able to meet with a number of health staffers and visited over 35 offices on Capitol Hill. Because of family constituent visits in April, meetings throughout the spring, and this recent trip to Capitol Hill, every Member of key committees has received materials and personal outreach regarding this paramount legislation for Spinal Muscular Atrophy research.

FightSMA and its partners are committed to the success of this first-ever SMA legislation, and plan to return to Capitol Hill throughout the 111th Congress.

Newspapers and press outlets across the country have picked up on the story of the Strong’s journey. Even the Associate Press ran an article. Check out some of the news pieces by visiting The Gwendolyn Strong Foundation press page

The Strongs recently began a new project - turning a family reunion into an opportunity to raise awareness and funding for SMA research. The family will be driving from California to Mississippi, 5,000 miles round trip, so that Gwendolyn can meet her 104 year old great-grandfather. They are asking donors to Sponsor a Mile, with the proceeds going to support the Foundation’s mission.

The Strong’s and their campaign were profiled by Santa Barbara’s KEYT-3 news:

Katrina just graduated with honors from the University of Chicago Law School. With her assistance dog Duke by her side, Katrina was the first wheelchair bound student to graduate from the school. During her three years at the University, she worked to make the school more accessible, in addition to her course study, work at a legal clinic, and participation in a law school musical. Click here to read the full article.

Zak will be speaking during his graduation ceremony as the salutatorian of his class. The seventeen year-old has been in a wheelchair since the age of 3 and despite enduring multiple surgeries to counteract the effects of SMA, Zak excelled academically. He hopes to turn that success into a business degree and possibly into a career in the business-side of sports. Click here to read the full article.

To read more about the proposed legislation and to download your own copy, please visit Fight SMA’s spinal muscular atrophy legislative information page.  To read more about Congressman Wilson joining the effort to pass the bill into law, please click here: Wilson sponsors important SMA legislation.

Fight SMA Annual Conference 2009

It is with sadness we note the passing of Dr. Hung Li earlier this year. Dr. Li’s laboratory at Academia Sinica in Taiwan made a number of important and novel observations in the study of spinal muscular atrophy, all the more impressive given his was at a center with no prior record in SMA research. Dr. Li reported the first genetically and pathologically faithful murine model of severe SMA as well as the first report of treatment of these mice with an SMN2 inducing agent, butyrate. Latterly, he made the novel observation of a role for STAT5 kinase activation in the induction of SMN2, one of the first delineations of a mechanism of induction for this locus. As well he explored the role of apoptosis in SMA and reported on Valproate therapy in a small patient cohort.

In addition to his important SMA legacy, Dr. Li published widely on other issues including renal disease and novel therapies for stroke; clearly his was fertile and creative scientific mind. He was a quiet, kindly individual who reached out to a number of us with an invitation to Taiwan to visit his laboratory a number of years ago. A true pioneer in SMA research, he will be missed.

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.

June 1, 2009

Greetings SMA families, researchers and friends:

First and foremost, thank you for all you have done to help increase awareness of Spinal Muscular Atrophy (SMA) and assist in efforts to identify a treatment and cure.  With your help, we will find a treatment and cure for SMA!

The SMA Community is very pleased to announce that legislation to enhance federal support for SMA research, H.R. 2149/S. 1158, the “SMA Treatment Acceleration Act of 2009“, has been introduced in the U.S. House of Representatives by Congressman Patrick Kennedy (D-RI) and Congressman Eric Cantor (R-VA) and in the U.S. Senate by Senator Debbie Stabenow (D-MI) and Senator Johnny Isakson (R-GA).  On behalf of our organizations and the families affected by this devastating disease, we want to express our gratitude and thanks to Congressmen Kennedy and Cantor and Senators Stabenow and Isakson for their leadership.

Today, we are issuing a “Nationwide Call to Action” for all SMA families, researchers and friends to help engage every Member of Congress in support of this legislation and we are asking for your help!  PLEASE write your Representative and Senators asking them to sign on as a Cosponsor to the “SMA Treatment Acceleration Act of 2009.”

Below is a model letter you can use to send to your Representative and Senators and a few simple steps to assist you in contacting them.  Please feel free to personalize your letters or change them as you feel comfortable.  While this will take just a few minutes of your time, it will make a great difference!

THANK YOU AGAIN for your help!

Sincerely,

Kenneth Hobby
Families of SMA

Martha Slay
FightSMA

Annie Kennedy
MDA

Cynthia Joyce
SMA Foundation

————————–
NOTE: For more information on the “The SMA Treatment Acceleration Act” please contact any one of our Government Affairs staff:
Spencer Perlman, Families of SMA, spencer@fsma.org
Caroline Gibson, FightSMA, carolinegibson@fightsma.com
Annie Kennedy, MDA, akennedy@mdausa.org
Laura Lay, SMA Foundation, llay@wswdc.com

Here are a few simple steps:

1. Write your letter based on the model letter below.  If you are unsure of who your Member of Congress and Senators are please feel free to contact us and we will help you figure that out.
2. We encourage you to make your letter as personal as possible, feel free to add your personal story or send pictures along with your letter.
3. Once you have completed your letter, if you have email, please email your letter to your Member of Congress and Senators.  Or if you prefer, fax your signed letters to your Member of Congress and Senators.  Your Member of Congress and Senators e-mail and fax number can be found on the House of Representatives website www.house.gov or Senate website www.senate.gov.  If you send by mail, please note that mail going to the U.S. Capitol is still being screened for anthrax so it often takes weeks to get there.  So if you can, please email or fax!
4. Lastly, let us know when you have sent the letter via email or fax!  You can do so by simply adding a cc: to your email to Spencer, Caroline, Annie, or Laura’s e-mail or by sending copies of your letters to Spencer, Caroline, Annie or Laura.
5. As Members of Congress and Senators sign on to be Cosponsors of “The SMA Treatment Acceleration Act 2009″, we will send you updates!  When you see your Members of Congress and Senators names, you will know that these few minutes have been worth your time!  And if you don’t see their names, we will ask that you contact them again to remind them of your request!
6. Remember, you are their constituent and their job is to help address the issues you care most about.

Click here to download the sample letter.
Click here to download the Nation Call to Action as a PDF.

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

On Saturday, May 16th, a group of children in Virginia held a lemonade stand to raise money for the fight against spinal muscular atrophy (SMA). The group rallied around their friend and neighbor Tatum who was diagnosed with SMA type 3 just over a year ago.

By selling lemonade, baked goods, and snacks, these young people were able to collect $250 for FightSMA to support SMA research and were also able to inform their neighbors about this crippling disease.

Read more on Fight SMA’s Spinal Muscular Atrophy Congressional Information Page!

Thank you to our attendees, corporate sponsors, Thriving with SMA panelists, and photographer Ralph Alswang.

Just over a year ago, Lucas Cade Clark, pictured above, was born. When he was just four months old, he was diagnosed with Type 1 Spinal Muscular Atrophy (SMA), the most severe form of the disease. The Believe In Lucas Clark Foundation was created by his family and friends to help raise funds and awareness to find the cure for SMA.

The Foundation is about to hold its first fundraiser at the end of the month. The first of what is planned to be an annual golf tournament will be held at the South Riding Golf Club in South Riding, Virginia on May 29th. Registration and sponsorship information is available on the Foundation’s website. A portion of the proceeds will be donated to FightSMA.

Congressman Eric Cantor (R-VA) meets Greg Tapley from Fight SMA’s Georgia chapter, following the recent Fight SMA Conference in Washington D.C.  Greg thanked Congressman Cantor for his sponsorship of the SMA Treatment Acceleration Act, which he and Congressman Patrick Kennedy (D-RI) re-introduced in the House of Representatives on April 28, 2009.

FightSMA congratulates Bill on the recognition of his work, and thanks both he and Victoria for all they have done!

Click here to read the full article.

Despite being confined to a wheelchair and suffering muscle weakness, Curran hasn’t let the effects of the disease dramatically change his life. He is majoring in business at Temple University and plans to own his own business in the future. Just like any other college student, he enjoys hanging out with his friends and listening to music.

To read the entire article, click here.

The 2009 version of “The Good Fight”, Fight SMA’s Annual Spinal Muscular Atrophy Conference, wrapped up on Tuesday, April 28 and it was another successful year!

Here are a few of the highlights:

• 20 researchers and two additional graduate students from the National Institute of Neurological Disorders and Stroke (NINDS) were in attendance.

• Three of the attending scientists joined five additional doctors and healthcare professionals in an educational panel for attendees of the “Families and Friends Conference.”  This year’s panelists were Thomas Crawford, M.D., Tina Duong, MPT, Craig P. Eberson, M.D., Sally Evans, M.D., Sarah Feasel, MEd, RD, LD, CNSC, Mary Schroth, M.D., Kathy Swoboda, M.D., and Alex MacKenzie, M.D., Ph.D.

• On April 28, many of the families, friends and researchers descended on Capitol Hill to advocate for Spinal Muscular Atrophy and the SMA Treatment Acceleration Act, visiting the offices of more than 65 Congressional Representatives.  After a productive day, the SMA community was thrilled to learn that HR 2149, the SMA Treatment Acceleration Act, had been re-introduced in the House of Representatives.  FightSMA thanks all of our families, friends and researchers for kicking off the 2009 advocacy efforts in a big way!

• For the first year, Fight SMA offered a webinar of the Families and Friends panels.  The webinar was a success, with 30 participants from 13 U.S. states and a total of four countries.  Those who utilized the webinar said the experience was great!

We’re thankful for the contributions of everyone who made this conference a success, and for our sponsors, who made it possible: PTC Therapeutics, Genzyme, Hill-Rom Company, ISIS Pharmaceuticals, Psychogenics, Permobil, The Medi-Kid Co., and Exceptional Parent Magazine.  A special “thank you” goes to Hill-Rom Company and Genzyme, which not only sponsored the event, but also sent representatives to attend the Families and Friends Conference!

We are very pleased to announce that legislation to enhance federal support for Spinal Muscular Atrophy (SMA) research, H.R. 2149, the “SMA Treatment Acceleration Act of 2009“, has been introduced in the U.S. House of Representatives by Congressman Patrick Kennedy (D-RI) and Congressman Eric Cantor (R-VA).  On behalf of our organizations and the families affected by this deadly disease, we want to express our gratitude and thanks to Congressmen Kennedy and Cantor for their leadership.

This legislation builds upon the success of the SMA Treatment Acceleration Act introduced in the 110th Congress, which garnered 85 cosponsors in the House and 21 in the Senate, including then-Senator Barack Obama.  The new version of the legislation has been modified slightly to ensure resources for SMA clinical efforts and infrastructure are maximized.

SMA is the number one genetic killer of children under the age of two.  It is an inherited disease that destroys the nerves controlling muscle movement, which affects crawling, walking, head and neck control, swallowing, and breathing.  Approximately one in 40 people, or approximately 7.5 million Americans, carries the gene mutation that causes SMA.  Each child of two carriers of the mutant gene has a one in four chance of being afflicted by SMA.

Among more than 600 neurological disorders, SMA has been singled out by the National Institutes of Health (NIH) as one of the diseases closest to treatment based on scientists’ advanced genetic understanding of the disease and a strong collaboration between families, federal agencies, and patient advocacy groups.  Researchers have identified the gene responsible for SMA, as well as a disease modifying “back-up” gene that has opened the door to promising new treatment pathways.  This research is providing groundbreaking data for SMA and other disorders, including the muscular dystrophies, Lou Gehrig’s disease, Friedriech’s Ataxia, Fragile X syndrome, and Huntington’s disease.

In order to build on the progress being made by investigators and bring treatments to children affected by SMA, a broad coalition of organizations, including Families of SMA, FightSMA, the Muscular Dystrophy Association (MDA) and the SMA Foundation, has united behind the SMA Treatment Acceleration Act of 2009, legislation aimed primarily at supporting a national clinical trials network for SMA.

Specifically, the “SMA Treatment Acceleration Act of 2009” provides for the following:

• Federal support for a national clinical trials network for SMA;
• Federal support to enhance the SMA patient registry and for expanded research on the epidemiology of SMA;
• Establishes an Interagency SMA Research Coordinating Committee to include federal agencies including NIH, SMA researchers, and SMA families, to coordinate government activities relating to SMA, develop a comprehensive strategy for improving and expanding SMA research, make recommendations to strengthen collaborative research across multiple institutes at NIH, and identify barriers to the development of drugs for treating SMA; and
• Provides for the Secretary of HHS to establish a program to provide information and education on SMA to health professionals and the general public

Our organizations are issuing a “Nationwide Call to Action” for all SMA families, researchers, and friends, to help engage every Member of Congress in support of this bill and the great efforts of Congressmen Kennedy and Cantor.

Kenneth Hobby
Families of SMA

Martha Slay
FightSMA

Annie Kennedy
MDA

Cynthia Joyce
SMA Foundation

————————–
NOTE: For more information on the “The SMA Treatment Acceleration Act” please contact any one of our Government Affairs staff:

Spencer Perlman, Families of SMA, spencer@fsma.org

Caroline Gibson, FightSMA, carolinegibson@fightsma.com

Annie Kennedy, MDA, akennedy@mdausa.org

Laura Lay, SMA Foundation, llay@wswdc.com

Click here to download the Joint Announcement.

The FightSMA Annual Conference: The Good Fight is off to a great start. Opening last night, attendees heard from Dr. Arthur Burghes of Ohio State University, Dr. Livio Pellizzoni of the Columbia University Center for Motor Neuron Biology and Disease, and Dr. Rashmi Kothary of Ottawa Health Research Institute.

The last speaker of the night was Dr. Clive Svendsen. Dr. Svendsen, his team at the University of Wisconsin-Madison, and Fight SMA Science Director Dr. Chris Lorson drew attention last year when they published the journal article “Induced pluripotent stem cells from a spinal muscular atrophy patient.” Work with induced pluripotent stem cells (IPS cells) and the potential promise that they hold for numerous diseases was so striking that Science declared it the 2008 Breakthrough of the Year .