It has now been 1 year since our precious baby boy was diagnosed with Spinal Muscular A
trophy – type 1. He uses 6-7 machines daily to keep him alive. We’ve learned to care for him just as nurses and respiratory therapists would. We’ve saved his life multiple times in our home when he crashed. My husband describes the horrid experiences as if he was down range being shot at. His life is in our hands and with one wrong move it could be over. That hasn’t happened yet though. The good days certainly out weigh the bad.
Thomas, who we call “Bubby,” is now 17 months old and thriving. He truly embodies strength, courage, and perseverance. After a frustrating diagnosis process and spending almost 3 months in the hospital, we found support. The staff at Duke became our family and helped us advocate. The organization Cure SMA sent us an extraordinary care package and connected us with other families in the area. The Ronald McDonald House of Durham gave us an appropriate place to stay with Hanna and fed us daily. We found a community of experts online; the parents of SMA that have been through it all showed us they were there to guide us along the way. Family, friends, and strangers opened their hearts to us, and donations for our expenses poured in. We were eventually able to leave the hospital and go home. Tricare, EFMP, and ECHO allowed us to hire nurses to help us care for our son, giving us a break from his constant needs. We traded in our vehicle and used donated funds for a handicap accessible van that could accommodate his amazing new medical stroller that held him and all his equipment. We got him set up with multiple therapies; PT, OT, play, and speech so he could adapt, learn, and grow strong. We even learned about and applied a special diet that helps him thrive.
I never knew all this was possible or even existed a year ago. I didn’t know I could ever see so much life in the eyes of a child fighting against a terminal timeline. By this point, I don’t have to tell you how amazing, handsome, and smart he is or how much we have overcome. Today we choose not to be sad. Today we smile, just as he does everyday, because he is here and a year ago, that wasn’t a guarantee. We know our time with him may be short so we make the best of every day. Despite our obstacles, we are a happy family that enjoys going out and doing normal things; we just may do so a little differently. We will still face deployments in the future, but my husband is always working to create opportunities that will help his career and our family in the long run. My goal is to keep my kids happy and healthy and educate everyone I can about SMA, the devastating disease we face daily.
We are a military family of Spinal Muscular Atrophy and this is our story. Visit our Facebook Page here.
More about SMA:
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 carriers. 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. Type I—the most severe and the most common—is usually diagnosed during an infant’s first six months. Babies with SMA type I face many physical challenges, including muscle weakness and trouble breathing, coughing, and swallowing. They may need breathing assistance or a feeding tube. Type I is often fatal early on in life, most don’t reach age 2. 60% of all SMA cases are type I.
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.
Though there is currently no approved treatment for SMA, there’s great reason for hope. We know what causes SMA and what we need to do to develop effective therapies, and we’re on the verge of major breakthroughs that will strengthen our children’s bodies, extend life, and eventually lead to a cure.
