Brooke and Brielle have both been diagnosed with Spinal Muscular Atrophy Type II. There is no cure for this disease but the National Institute of Health believes a cure can be found within the next 5 years with proper funding.
Our family has created this page to inform you about the disease, spread awareness and give updates about our life with SMA.
As you probably already know, Brooke and Brielle both take Hippotherapy lessons at the Cheff Therapeutic Riding Center. They were selected for the first “Discovering Diagnoses” article for the front page of Cheff’s newsletter! The article explains what SMA is and how the Cheff Center has helped us in our journey. We hope the newsletter spreads awareness and ecourages people to take action to help find a cure for SMA!
Check out this powerful video by the Gwendolyn Strong Foundation featuring Brielle and her perseverence to walk. The new Team GSF slogan is “Never Give Up!”
“Push your physical strength to the limits to help conquer a disease that robs children of theirs. Run, bike, swim, climb… whether this is your first athletic event or you are a seasoned pro, we welcome all athletes to move their bodies so one day those with SMA can too.” -Team GSF
Our family was invited to the Michigan Capitol Building by our Representative Aric Nesbitt last week to hear him introduce House Resolution No. 118 on the house floor! It was such an amazing experience! Rep. Nesbitt gave us a personal tour of the historical building and his desk on the house floor. We were also able to view the Senate Floor, Supreme Court room and the House Appropriations room.
After our tour was over, Rep. Nesbitt took us up to the viewing gallery in the House of Representatives room. He told us to wait there as he left to check in for attendence and the session began. He introduced House Resolution No. 118 - A Resolution To Declare August 2011 As Spinal Muscular Atrophy Awareness Month In The State Of Michigan. After he read the resolution, he introduced our family and my mom, Liz. Then the Representatives on the floor stood up, turned around and clapped and waved to us! Brooke and Brielle loved this part and excitedly gave their best Princess wave and said, “hi” right back. What an awesome moment! If you listen carefully you can hear it in the video below:
It was such an honor to be introduced on the house floor for H.R. No. 118 and we are so happy about spreading the awareness about Spinal Muscular Atrophy. We would like to say a huge thank you to Representative Aric Nesbitt and his Aide Ryan for inviting us to come out for the day and give us this amazing opportunity!
Last month we were able to make it to the Michigan International Speedway in the Garage and Pit area to check out all of the super fast race cars! The day started out with a few sprinkles of rain and then the sun came out and made for a perfect day! The highlight of our time at MIS was a meeting with Chad Knaus! We had time to do a little catching up with him and Brielle made him laugh by telling him her favorite joke (she learned from her friend Rosie). “What does a horse say when it falls down? …I need to giddy up!” hee hee!
We were able to visit Mr. Chad at his work while we were visiting North Carolina for the Rusty Rudder Golf Outing so the girls made a little picture collage for him and gave it to him as a gift!
He really appreciated it and proudly displayed it on his desk right next to his prized trophy! Wow! :)
We really apprecaiate the time that Chad took with us and he even gave the girls a few coind to toss in the fountain out front to make a wish! Brielle wished that she could go back to Aunt Ten’s house. I think that is one dream that will come true!
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.
Thank you Congressman Fred Upton for your support!
Thursday, December 8, 2011 at 10:23PM | 
