With Thanksgiving just a day away, we pose the question “What are you thankful for this year?” to members of the SMA community. Here are some of the answers we’ve received:

• I’m thankful for my angel-on-earth : )
• I am thankful for the most beautiful little girl, some of most helpful and dedicated nurses, and good fortune through all the trials and tribulations that have come my way this year…
• I am thankful for moments.
• My familia!
• I am thankful for the memories I have of the child that I lost to SMA and for hope for the future.
• family and friends that support and encourage Andrew and our family in dealing with SMA during the good times and hard times.
• Thanksgiving has come and gone in Canada, but I am thank for Miles and all the joy he brings me.
• My son. My husband. Good friends. Volunteer opportunities that keep me busy and full of purpose.
• I am thankful for my SMA patient that the drs said wouldnt live past 16 months and she turned 3 this past Saturday!
• That we have family and friends to support and help us… That Dr. Schroth, Lisa, and company are so close… : ) That God chose to bless us with our happy, sweet, smiley Lucy bug!
• I’m thankful for all my family & friends, it’s an interesting mix that is always there for us in one way or the other. I’m also thankful that my mom’s cancer is in remission again!!

Share your responses with us on Facebook, Twitter, or SMASpace.

Happy Thanksgiving!

Last week, Bill and Victoria Strong shared a story of meeting a man, Joe Barnick, who has inspired them in their care for their daughter Gwendolyn, who, like Joe, has spinal muscular atrophy (SMA).

From the Strong’s blog:

November 20, 2009

Joe Barnick, thanks for the inspiration!

This is such a small, small, tiny world in so many ways. Victoria and I have been researching and thinking through ways to use technology to help Gwendolyn communicate. There is a really cool application that we’ve been looking at, Proloquo2Go, that brings augmentative and alternative communication (AAC) to the iPhone/iTouch devices. It looks like it could potentially help Gwendolyn. I emailed support at AssistiveWare, the company that created the application, to ask a few questions and I received a very thorough response from a gentleman named Joe Barnick. It turns out that not only is Joe a very helpful customer support person at AssistiveWare, but Joe also has SMA. He is also the designer and editor-in-chief of the AssistiveWare Newsletter. He was very helpful and he sent me the YouTube video below that shows how he uses his Mac and an AssistiveWare application called KeyStrokes for “all the things he cannot do in the real world”. I feel so fortunate to have met Joe — for so many reasons. He’s an inspiration to me and he reminds me to never underestimate Gwendolyn’s abilities and — in his words — to “never stop fighting for your daughter and never give up hope! : )”. Joe, I can promise you that I never, ever, ever will!

I’m so glad that I met you Joe. Thank you for opening up my mind even more to what is possible and I look forward to keeping in touch! Keep up the great work at AssistiveWare…

Spinal Muscular Atrophy is too often unheard of among doctors. Over the years, FightSMA has been trying to build a list of medical professionals familiar with SMA and its effects. The existing list is a part of the SMA Guidebook on FightSMA’s website and can be found here. We would love the recommendations of SMA families and patients to help expand this list and to provide a valuable resource, especially to newly diagnosed families or those seeking a second opinion.

If you would like to recommend someone, we’d love to at least get their name, area of expertise and where they see their patients. If you have contact info, that would be even better. This information can be shared through email, Facebook, or Twitter.

Gabriella Garbero is an 18-year-old student at the University of Missouri. Like many freshman, she took part in rush which culminated in accepting a bid from the Kappa Kappa Gamma sorority. But with this experience, Gabriella made history at MU by becoming “the first woman in the university’s history to participate fully in rush while using a wheelchair.”

Gabriella has type 2 spinal muscular atrophy. To enter sorority houses during rush, a friend set up portable ramps so Gabriella could maneuver her wheelchair over stairs. Now that she is a Kappa Kappa Gamma sister, Gabriella keeps two temporary ramps at the house, which the sorority says will be replaced by permanent ramps. Despite these improvements to the house, Gabriella will not be able to live there due to additional accessibility limitations and her dependency on additional personal aides.

With the thousands of students with disabilities on campus, Gabriella does think it is strange that she is the first to pass this milestone. But, she does give her family credit for her decision to rush, saying “I was blessed to be raised in a family where I wasn’t limited just from being in a wheelchair.” Gabriella has already inspired others to follow in her path, as her roommate, who also uses a wheelchair, is considering the next rush season.

To read the full article from the Columbia Missourian, click here.

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.

November 2, 2009

Dear SMA families, researchers, clinicians and friends,

Thank you again for all you have done to help increase awareness and attention towards our efforts to accelerate treatment and cure discovery for Spinal Muscular Atrophy (SMA). As we continue to promote the SMA Treatment Acceleration Act (H.R. 2149/S. 1158) in the current Congress, many important questions have been posed regarding the status of the bill, the political climate in Washington, and the need for sustained grassroots engagement. In response to these queries, we have put together a list of frequently asked questions (FAQs). Please find below answers to these FAQs.

We hope that this information clarifies the incredible progress made to date and the path forward for the SMA Treatment Acceleration Act. Your continued support for the Act is the key component of our strategy to see this legislation enacted. While we cannot make guarantees of success, we can state unequivocally that we are making excellent progress and have a strategy in place to accomplish our goal. The legislative process requires persistence and patience - please continue to remain engaged and active participants as you are integral to our success.

Thank you very much for your continued support and involvement.

Sincerely,
The SMA Government Relations Team

Spencer Perlman
Families of SMA
spencer@fsma.org

Caroline Gibson
FightSMA
carolinegibson@fightsma.com

David Miller
MDA
dmiller@mdausa.org

Laura Lay
SMA Foundation
llay@wswdc.com

NOTE: If you have additional questions about the “SMA Treatment Acceleration Act” or for more information, please feel free to contact us at any time.

FAQs about the SMA Community’s Progress with the SMA Treatment Acceleration Act

Q1: Where do we stand with the SMA Treatment Acceleration Act? How does our pace compare to the previous Congress?

The SMA Treatment Acceleration Act has made good progress thus far in the 111th Congress, which runs from January 2009 - January 2011. The Act was reintroduced in the House of Representatives at the end of April and in the Senate at the end of May following months of discussion between the SMA community and the bill’s sponsors, staff for the congressional committees with jurisdiction over health care matters, and federal agency partners.

Thanks to our community’s tireless outreach over the past several months since reintroduction, the SMA Treatment Acceleration Act already has gained 57 cosponsors in the House and 15 cosponsors in the Senate, placing us well ahead of our pace in the 110th Congress. (A list of current cosponsors can be found below.) In fact, nearly half of our cosponsors in the House have been added in the five weeks since Congress returned from its August recess, a testament to the power of our community’s collective voice and the momentum we have achieve.

Q2: Why have some Members of Congress who previously supported the Act not yet signed on to the newest version?

It is important to understand the current political climate in Washington in order to appreciate the speed with which the Act is gaining support among lawmakers. For most of 2009, health care reform has been an all-consuming process for Members of Congress and their health care staff, largely eclipsing all other health-related measures in Congress. Thus, many of our supporters in Congress have not yet had the time to consider the changes to the bill and express their support. This does not mean that those Members will not cosponsor the legislation, but rather, that an unprecedentedly busy legislative calendar has demanded that all of their time and is focused on the health care reform at this time.

Please know that the calls, letters and e-mails from the SMA community are not being ignored by Members or their staff. In fact, our continued outreach remains integral to the success of this bill as it builds support for the legislation and will make the SMA Treatment Acceleration Act a priority for lawmakers when health care reform is complete.

Q3: What are our next steps? What is the plan for the remainder of 2009 and 2010?

Congress hopes that the health care reform debate will be completed by the end of calendar year 2009. With this massive endeavor out of the way, committee staff and Members who have spent almost the entire year working around the clock on health care reform will be freed up to consider other health-related legislation. All of the SMA community’s efforts for the remainder of 2009 will be in preparation to step into this “void” and make real progress later this year once health care reform is completed and in 2010.

Later this year or beginning in January 2010, the congressional committees with jurisdiction over the SMA Treatment Acceleration Act (the House Energy & Commerce Health Subcommittee and the Senate Health, Education, Labor and Pensions (HELP) Committee) are expected to entertain health-related bills with broad, bipartisan support. The SMA Treatment Acceleration Act falls under this broad categorization; however, there are hundreds of such bills and the Committees will likely take up only those bills that are entirely “non-controversial”, meaning that every member of the committee is comfortable with the legislation or does not have major objections to its consideration. In order for the SMA Treatment Acceleration Act to be considered in this process, the SMA community must continue to engage lawmakers to educate them about the Act and to build our base of support so that we are prepared to receive Committee consideration when the time comes.

Q4: What can I do to help?

Please continue to engage every Member of Congress in support of the SMA Treatment Acceleration Act by writing and calling your Senators and Representatives. Personalized calls and letters to Members of Congress from the SMA community are the most effective methods of advocating for the SMA Treatment Acceleration Act. In the immediate months, as health care reform continues to dominate the political stage, you should continue to ask friends, family and community members to write letters of support to their Members of Congress encouraging them to cosponsor the legislation. This outreach will lead to more cosponsors and will impact the decision makers on the committees of jurisdiction.

Current Cosponsors:

In the House (57):

In the Senate (15):

To download this update, click here.