Brooke and Brielle  Photo credit:  ML Photography

Brooke and Brielle  Photo credit: ML Photography

Brooke and Brielle are 9 and 10 years old, and they live with the rare disease known as Spinal Muscular Atrophy (SMA). There is currently no cure for the disease.

Their parents, Sarah and Eric, received Brielle’s diagnosis December 29th 2008.  Just days before Eric was deployed to Afghanistan with the Michigan Army National Guard.  A month later, while he was overseas, Sarah had to tell him by phone that Brooke also had been given the same devastating diagnosis.  

Through it all, the Kennedy family has found the strength to live life to the fullest and overcome daunting challenges to assure that Brooke and Brielle lead full, happy lives and take every opportunity to show that they are not defined by the disease.

What is Spinal Muscular Atrophy?

  • SMA (spinal muscular atrophy) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It is the number one genetic cause of death for infants.

  • SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness. 

  • SMA affects approximately 1 in 10,000 babies, and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.

  • There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved.

  • Individuals with SMA have difficulty performing the basic functions of life, like breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.

  • The U.S. Food and Drug Administration approved Spinraza (nusinersen), the first drug approved to treat children and adults with spinal muscular atrophy (SMA) December 23rd 2016. Spinraza is an injection administered into the fluid surrounding the spinal cord. In clinical trials, Spinraza halted the disease progression.

-Info provided by CureSMA.