The day that your child is diagnosed with SMA is forever burned into your mind. The way the doctor says, “I’m sorry”, the feeling that your whole world is crashing down, and what your sweet baby looks like smiling at you through the tears pouring down your face. It is a day when all hope is lost and you can’t imagine losing your child.
We welcomed Ella into our family on New Year’s Eve 2009. She was a perfectly healthy little girl. We were so blessed to have received another little gift from God. Her brother, Kaleb, was so excited to finally meet his sister. Ella developed normally and right on time, lifting her head, rolling, and was even able to sit unsupported. We began to worry when she did not progress past sitting, did not roll much anymore, hated her tummy time, and did not put weight on her legs. The next two months we had her doing physical therapy and hoping that her hypotonia would improve. In December 2010 we consulted a neurologist who suggested we draw blood to test for SMA. Three days after her first birthday on January 3rd, 2011, we received the news that Ella had SMA. We were completely devastated and even more crushed when the doctors told us that she had Type 1 SMA, based on her testing. They told us that we were lucky that she was here and doing well but gave us the worst case scenario, speaking of trachs, feeding tubes, and palliative care. We went home feeling like we would soon be saying good-bye to our daughter.
After immersing ourselves into the SMA community and trying to learn about SMA, we came to realize that there was hope. The SMA community is amazing! Ella is still able to sit unsupported, has no problems with eating, or with breathing. She has gotten through a few colds with no difficulties as well, a small miracle for us. It seems as though she is a Type 2, fighting against the odds….fighting her SMA. We don’t know what Ella’s future holds and try our best to keep her healthy, but three months after that horrible day, we have found hope!
Although we would take her SMA away in a heartbeat, it has actually been a blessing. A diagnosis like this makes you appreciate things so much more and brings people together in ways you never knew possible. We will never limit our daughter, never assume she cannot do something because of her diagnosis. We continue to offer her opportunities to succeed and she surprises us every time! Just this week she was actually able to use a simple stander (a board with two poles on it!) to play at her pretend kitchen for the first time next to her brother ….something I never thought possible because she is so weak. She had the will to do it and she did it! Kaleb (3 yr old SMA-free) takes such good care of his sister and kept asking her, “Are you having fun Ella?” as he handed her new pots and utensils to try
Ella and all SMA kids deserve a chance, deserve a cure, they NEED a cure. Their brothers and sisters, parents, and extended families NEED a cure. We are excited to be able to help fund Dr. Kaspar’s Gene Replacement Therapy. Our family and friends are ready to go! We are hopeful that we can beat SMA, together!!!
~ The Peters Family ~
Brandon, Jen, Kaleb, and Ella (15 months)