Continued Advancement of Pediatric Research

Eric and I are both thankful for the determination and hard work the non-profit organization, FightSMA, has put into creating the National Pediatric Research Network Act (NPRNA).

Yesterday we came together with FightSMA, leaders in pediatric research, top hospital doctors and advocates to meet with our district's U.S. House Energy Commerce Committee Chairman Fred Upton to discuss the path forward for the implementation of the NPRNA.

We couldn’t be more grateful for Chairman Upton's support for the National Pediatric Research Network Act. We look forward to working with him as we do everything in our power to facilitate critically important advancements in the field of rare diseases and disorders.

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President Obama Signs NPRNA Into Law!!

BREAKING NEWS!

NOVEMBER 27, 2013

President Obama has SIGNED the NPRNA into law!  We are incredibly excited about what this means for SMA research and our ability to reach a treatmentand/or a cure. THANK YOU to all of our friends who sent letters to their Representatives to help get this bill passed!! 

For more into read the Q&A on FightSMA’s website to learn more about the bill, how it relates to SMA and what happens next visit: http://www.fightsma.org/blog/nprna/qa-the-national-pediatric-research-network-act-and-the-sma-community/

Chairman Upton commented, “At long last we are nearing the finish line, and we will soon have a network in place to help families like the Kennedys in Mattawan, Michigan, and their two young daughters who have the rare disease Spinal Muscular Atrophy. These two little angels, Brooke and Brielle, are little warriors in the effort to boost research for rare diseases and serve as an inspiration for all.” - See more at: http://energycommerce.house.gov/press-release/bill-help-children-rare-diseases-kennedy-girls-sw-michigan-now-one-step-closer-becoming-law#sthash.vh3lgboY.dpuf

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Mattawan's Kennedy sisters help inspire House bill funding research into rare genetic diseases

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MATTAWAN, MI – The medical struggles of two sisters from Mattawan helped inspire a bill funding research for rare diseases that passed the House by unanimous consent this week.

Brooke and Brielle Kennedy were born with type II spinal muscular atrophy. Their battle was chronicled in a 2012 Kalamazoo Gazette story.

The six-year-old and four-year-old have exceeded doctors’ prognoses, but SMA is a terminal, degenerative disease.

“SMA is the leading genetic killer of infants and young children. It is a terminal, degenerative progressive disease that results in the loss of nerves in the spinal cord and the weakness of the muscles connected with those nerves,” according to brookeandbrielle.com, a website set up by Sarah Kennedy, the girls’ mother. “SMA impacts the ability to walk, stand, sit, eat, breathe and even swallow.”

U.S. Rep. Fred Upton, R-St. Joseph, introduced the National Pediatric Research Network Act of 2013, which passed Tuesday as part of the Prematurity Research Expansion and Education for Mothers who Deliver Infants Early (PREEMIE) Reauthorization Act. Upton sponsored the original PREEMIE act, which became law in 2006.

The act supports research into rare and genetic diseases afflicting children, including SMA, by allowing the National Institutes of Health (NIH) to fund pediatric research consortium. Earlier this year, the measure passed the House as a stand-alone bill.

“This legislation will have a dramatic and life-changing effect on so many families who have suffered for so many years,” said Sarah Kennedy in a statement.

Upton said he met the Kennedys a few years ago, when they brought to his attention to a similar bill written to help fund rare diseases affecting children. Upton said he was charmed by the girls and keeps a picture of them in his Kalamazoo office.

“These girls are incredible. The first time I met Brielle and Brooke, they told me their names were Cinderella and Sleeping Beauty. They’re not letting their disabilities define them. But because spinal muscular atrophy is relatively rare, there hasn’t been a lot of funding for it,” said Upton in an email.

The bill will now move to the Senate as part of a package of health-related bills, S. 252. A previous version passed twice during the 112th Congress, once as a stand-alone bill and once as part of a larger piece of legislation. Neither version passed the Senate.

“The sad reality is it is often difficult to conduct research into rare diseases due to the small number of individuals with the disease,” he said. “We are working to change that and provide families with greater hope for a cure or advances in treatment.”

By Yvonne Zipp | yzipp@mlive.com

on November 14, 2013 at 10:45 AM, updated November 14, 2013 at 2:31 PM. Yvonne Zipp is a staff writer at the Kalamazoo Gazette. Email her at yzipp@mlive.com or follow her on Twitter.

http://www.mlive.com/news/kalamazoo/index.ssf/2013/11/mattawan_sisters_inspire_house.html

Congressman Fred Upton’s official Press Release:

Upton, House Approve Landmark Children’s Health Research Bill

The Energy and Commerce Committee Press Release:

Bill to Help Children with Rare Diseases Like the Kennedy Girls in SW Michigan Now One Step Closer to Becoming Law