Meeting with U.S. Congressman Fred Upton!

Our family met with our U.S. Congressman, Fred Upton to tell him about SMA and ask him to support the SMA legislation in the upcoming weeks/months. He was great and very willing to help, especially after meeting the girls. Brielle politely introduced herself as Sleeping Beauty and her sister as Cinderella! She told him she just turned 4 and her birthday and she said she can read and write. (She was very chatty!) He asked her the biggest word she knows and she replied with “Chimpanzee.” hahaha! We talked a great deal about SMA and told him how she is defying the odds and working hard to get strong and then Brielle showed him her muscles!

Thank you so much to FIGHT SMA for helping us get this all organized and bringing the SMA Legislation to our attention.  These were our talking points with Congressman Upton:

  • Fight SMA has decided to start with a fresh legislative approach in the 112th Congress.
  • Two of your fellow Energy and Commerce committee members, Rep. Cathy McMorris Rodgers (R-WA) and Rep. Lois Capps (D-CA), have agreed to lead the charge in developing bipartisan legislation to accelerate clinical trials – for SMA and other diseases. 
  • Majority Leader Eric Cantor’s health staff will also be working with our sponsors in this important effort.
  • Building on NIH Director Francis Collins’ stated goal to focus even more intently on bringing treatments to patients, our sponsors will work to craft legislation that will advance translational research and human trials, with SMA serving as a model disease.
  • We would greatly appreciate Congressman Fred Upton’s support for this legislation as it is developed in the coming weeks and months.

SMA background and research

  •  SMA is the number one genetic killer of children under the age of two.
  •  SMA is an inherited disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.
  •  SMA occurs in nearly 1 of every 6,000 births and is therefore similar in incidence and severity to other well-known genetic diseases such as cystic fibrosis and Duchenne muscular dystrophy, both of which may also benefit from additional focus and progress on SMA.
  • SMA is caused by the deletion or mutation of a single gene. This is extremely advantageous for genetic screening and therapeutic development.
  •  The gene deletion that causes SMA is carried by one in every 40 people, or approximately 7,500,000 Americans.  Each child of two carriers of the gene has a 1 in 4 chance of developing SMA.
  •  In addition to the gene responsible for the disease, SMN1, scientists have discovered a “back-up” SMN2 gene that can be modulated (“turned up”) to produce more SMN protein.
  •  Modulating genes exist not only for SMA but also for other genetic disorders, including Duchenne Muscular Dystrophy, Parkinson’s, and Alzheimer’s disease. The modulation of these genes holds promise for impacting these disorders.
  •  Private family organizations like FightSMA have been funding SMA research for the past twenty years, and currently fund about $20 Million per year in research.
  • Based on these efforts we have discovered and developed several drug compounds through the pre-clinical stage. 
  • In addition, SMA was selected by NIH and the National Institute of Neurological Disorders and Stroke (NINDS) out of more than 600 neurological disorders for and accelerated drug development program, the SMA Project.
  •  Now we have reached the critical clinical trials phase that will bring SMA research across the finish line to deliver a treatment to affected children.
  •  National clinical trials are far too expensive for private organizations to implement on their own.  Without federal funding to see the research through, we will have wasted the significant government investment that has already occurred.
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Thank you Congressman Fred Upton for your support!