From the Monday, October 27, 2008 press release by the Social Security Administration:

Social Security Announces Nationwide Launch of Compassionate Allowances
Process Will Fast Track Applications For People with Cancers and Rare Diseases

Michael J. Astrue, Commissioner of Social Security, today announced the national rollout of the agency’s Compassionate Allowances initiative, a way to expedite the processing of disability claims for applicants whose medical conditions are so severe that their conditions obviously meet Social Security’s standards.

“Getting benefits quickly to people with the most severe medical conditions is both the right and the compassionate thing to do,” Commissioner Astrue said. “This initiative will allow us to make decisions on these cases in a matter of days, rather than months or years.”

Social Security is launching this expedited decision process with a total of 50 conditions. Over time, more diseases and conditions will be added. A list of the first 50 impairments — 25 rare diseases and 25 cancers — can be found at www.socialsecurity.gov/compassionateallowances.

This list includes: “Spinal Muscular Atrophy (SMA) - Types 0 And 1.”

To read the full press release, click here.

From the Delaware County Times in Pennsylvania:

Elizabeth Vandiver never heard of Spinal Muscular Atrophy (SMA) until her sister’s baby, Gwendolyn, was born in October 2007.

Gwendolyn seemed healthy at first. But her mother, Victoria Strong, had a gut feeling something was amiss because of floppiness in Gwendolyn’s legs and neck. Then, at about 9 weeks old, Gwendolyn came down with flu-like symptoms and “crashed,” Victoria said. It happened fast. In the morning, Gwendolyn was smiling. Six hours later, she lay paralyzed in her crib, struggling to breathe.

Doctors initially diagnosed infant botulism. But in the tortuous and test-filled weeks that followed, they discovered Gwendolyn had SMA Type 1, the most severe — and terminal — form of a rare hereditary disease that destroys nerves in the spinal cord. These nerves control voluntary muscle movement, including swallowing and breathing.

The article goes on to describe the family’s battle against SMA by drawing support of the SMA Treatment Acceleration Act through the online petition they created. The SMA Treatment Acceleration Act has been introduced in the House of Representatives and the Senate and is supported by Families of SMA, the SMA Foundation, Fight SMA, and the Muscular Dystrophy Association. The article also includes a discussion of the cause of SMA and the science behind the search for a cure, including comments by FightSMA’s science director, Dr. Chris Lorson.

To read the full article, click here.

Are you one of the thousands and thousands of people who have signed the Petition to Cure SMA?  If not, it’s about time you joined the crowd!  As of this writing, the petition is about 1,500 signatures from reaching the 25,000 mark.  The list of names and comments will be sent to U.S. Congress to show support for the SMA Treatment Acceleration Act, proposed legislation that would be the first ever to authorize funding for research into spinal muscular atrophy.  The legislation was developed and is supported by a coalition of nonprofit groups that includes Fight SMA.

Please add your name to the petition and show your support by clicking the banner below.

A study published online October 8th by the monthly journal ACS Chemical Biology reports that scientists have made “a key advance toward developing the first effective drug treatment for spinal muscular atrophy (SMA).”

SMA is an autosomal recessive neurodegenerative disease characterized by the dramatic loss of spinal motor neurons, resulting in muscle weakness, atrophy, and in the worst cases, the loss of ability to swallow and breathe. SMA occurs when a vital gene, the “survivor motor neuron” gene or “SMN” is deleted or mutated, preventing the creation of a protein necessary for muscle strength. Even though the key SMN gene is deleted, there is a second “copy” gene (the “SMN2″ gene) that continues to produce limited quantities of the SMN protein.

After screening hundreds of thousands of compounds, researchers are looking at C5-quinazolines as a potential method of increasing the SMN2 activity and thus the protein SMA patients lack. According to Jill Jarecki, Ph.D., Research Director at Families of SMA, “the results outlined in the paper and carried out in collaboration with Families of SMA, deCODE chemistry & biostructures, Invitrogen Corporation, and Rutgers University represent a new understanding of the physiological mechanisms that can increase SMN expression and will allow us to move forward in advancing potential treatments for it.”

To read more, click here.

We are pleased to announce today the launch of the International SMA Patient Registry’s new website. This registry helps facilitate communications between SMA families and SMA researchers. Investigators who are interested in SMA research need access to information concerning SMA patients and families. The International SMA Patient Registry makes this happen by collecting and maintaining information on SMA patients and families.

This project is supported by the Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials which includes: Families of SMA, Fight SMA, Muscular Dystrophy Association, SMA Foundation, and other SMA advocacy groups. The site is hosted by Indiana University School of Medicine’s Department of Medical and Molecular Genetics, and can be found at https://smaregistry.iu.edu.

Here’s the copy from the official press release, which came out today:

Indianapolis, IN, October 15, 2008.

After many months of anticipation we are pleased to announce the unveiling of the new International Spinal Muscular Atrophy Patient Registry Website! The Website now allows individuals to participate in the Registry completely through on-line interaction including registering, completing questionnaires, learning about and signing up for new research study opportunities and completing annual information updates.

We are excited about the enormous improvement in the speed with which we will be able to communicate with both the research and family community and hope that you will take a moment to visit our new website. Please email any comments on the SMA Registry to: smareg@iupui.edu

This project is supported by the Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials which includes: Families of SMA, Fight SMA, Muscular Dystrophy Association, SMA Foundation, and other SMA advocacy groups.

About the Registry:
The International Spinal Muscular Atrophy Patient Registry (the Registry) was founded in 1986 at Indiana University. The Registry connects patients and families interested in participating in research and researchers interested in studying SMA. The Registry contains information from over 1,600 families and over 1,700 individuals with SMA from all over the world and continues to grow. The Registry has helped recruit participants for clinical trials and has provided data for important SMA research studies. The Registry helps centralize information on this rare genetic disease, provides families a way to learn about research studies and provides researchers a way to find research participants.

Individuals and families affected by SMA are invited to join the Registry. Participants are asked to complete questionnaires about the symptoms, treatment, medications, and other experiences with SMA.

Participant information is stored in a secure database. Researchers who are interested in studying SMA can request two types of data from the Registry, de-identified information and identifiable information. De-identified information does not contain any names or personal identifiers, and can be given to researchers without having to contact Registry families. Identifiable information includes information that can identify you and will never be released without getting your written permission to do so. Identifiable information includes data such as names and dates of birth. Some researchers may also request contact with families to obtain specific information or to request participation in a research study. In these instances, the Registry will contact each potential participant to ask if they are willing to share their identifiable information for a research project.

In 2008 the Registry joined the group, Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD) in a global collaboration to further the research goals of the neuromuscular disease community.

Greetings SMA families, researchers and friends:

We would like to extend our deepest thanks for your dedication and all you have done to help grow support for the SMA Treatment Acceleration Act (H.R. 3334/S. 2042). Thanks to your efforts, 83 Members of the House of Representatives and 21 Senators have signed on to the bill, a major milestone for the first-ever federal legislation authorizing SMA funding.

Our approach and goals for the rest of this year are to continue to push for consideration of the bill. Congress is likely to recess for the fall election season as early as this week, but, there is a possibility that a “lame duck” session will occur following the November elections and before the new Congress and President are sworn into office. If Congress does return for a lame duck session, it is possible that the SMA Treatment Acceleration Act could be considered. As part of an effort to create such an opportunity, our government relations team is in ongoing discussions with Congressional leadership and senior members of the House Energy and Commerce Committee on both sides of the aisle.

Regardless of the outcome of a lame duck session, we have made extraordinary progress over the past 12 months which positions us perfectly to reintroduce the bill at the start of the new Congress next January, continue to grow support, and work towards passage and enactment. Thank you again for your continued hard work as we make progress in securing support for our Act. As we continue our discussions with Congressional leaders in the coming months, we will provide additional updates as well as calls to action to seek your help in moving key decision makers in the House and Senate.

Sincerely,

Martha Slay, FightSMA

Kenneth Hobby, Families of SMA

Cynthia Joyce, SMA Foundation

NOTE: If you have any questions about the SMA Treatment Acceleration Act, please feel free to contact any one of our Government Affairs staff: Laura Breiteneicher of the SMA Foundation (laurab@wswdc.com / 202-589-0800), Spencer Perlman of Families of SMA (spencer@fsma.org / 202-333-5750), or Caroline Gibson of Fight SMA (carolinegibson@fightsma.com / 804-515-0080)

Our very own Martha Slay was given a very nice honor a couple of months back, and we were remiss in posting it here as a way of congratulating her!

Richmond radio station WMXB (Mix 103.7) named Fight SMA President Martha Slay as its “Extraordinary Woman of the Month” back in July.  The award honors women in the area who are doing great things, and we think Martha certainly personifies that description.  Here’s a look at her nomination letter, which was written by Fight SMA’s Caroline Gibson:

Martha Slay is my boss, the founder and president of Fight SMA . Fight SMA is a 501c3 non-profit organization dedicated to finding a cure for Spinal Muscular Atrophy (SMA), the number one inherited killer of babies under three. Martha and her husband Joe founded Fight SMA in 1991 after receiving the diagnosis of their son, Andrew. Back then, it was known as Andrew’s Buddies. Now, Fight SMA boasts 19 chapters in the US and Canada and is in development talks to found Fight SMA Australia. In addition, Martha also created the Fighter Mom program, a program for ANY mom fighting ANY childhood disease or disorder. Using what she’s learned from the successes (and failures) of Fight SMA , Martha created a community and manual for these spectacular mothers, and gives them the tools they need to go to battle for their kids.

Martha is truly an extraordinary woman. She goes above and beyond the call of duty. She is a Fighter Mom, an advocate, and a hero. She is THE Extraordinary Woman!

Congratulations to Martha, and to all of the winners of this great award!