My Story


I was born on June 1, 2005. I came out a big healthy baby or at least we thought I was healthy. Around 6 months of age, my mom and dad started to worry because I had not rolled over yet and my gross motor skills seemed to be a little behind. They know how much I love to lie around and cuddle, but just to be safe, they decided to get a professional opinion. And then the devastating news came when I was 7 1/2 months old! On January 19, 2006, I was diagnosed with Spinal Muscular Atrophy, Type 1. The disorder is in my genes from birth, but there were clues that told us it probably started setting in between 4-5 months (though we didn't realize it at the time). At the time of the diagnosis, my parents were clueless because we didn't have anything like this in the family and they had never heard of it before. It was the most difficult and painful news they ever had to hear. Life changed from that point on and the rollercoaster ride began.

A few days later, I did a swallow study and found out that I was silently aspirating my food. In other words, some of my food was going down the wrong way and into my lungs (very common with SMA). I was immediately admitted into the hospital and an NG tube was inserted down through my nose and into my stomach, which allowed me to eat. This was a temporary solution, until I could get a g-tube put in, which I later did. A g-tube is like a little button that opens and shuts in your tummy. It's very efficient, but mom and dad sometimes have a hard time with the fact that I can't eat like them. I ended up having a lot of reflux issues and was later diagnosed with Eosinophilic Esophagitis (EE - damage in my esophagus, possibly caused by food allergies & reflux issues). I now have a GJ button, so my food goes farther down in my digestive tract and doesn't cause these problems in my esophagus. And I do eat very healthy. I have a special diet that consists of Tolerex & Neocate Jr. (special formulas containing necessary vitamins & supplements, but also a pure form of amino acids, allowing for easy digestion). I get this over a feeding pump and I'm fed 20hrs a day continuously, so I never get hungry.

Besides a swallow test, I also had to have a sleep study. This test predicted that I had slow moments of breathing during the night (another SMA symptom), and therefore I started wearing a bipap mask at night to help me breathe better and expand my lungs. Mom and Dad also do respiratory treatments on me and use a cough assist machine and suction machine to help clear my lungs, since I don't have the strength to do it on my own. This was very hard at first, but I got use to it all very fast and now it's just a part of our normal routine. I also get lots of therapies to keep me flexible. I get OT, PT, Aquatic Therapy, and Speech. Mom & dad are both nurses, so they take good care of me and we have other nurses that help out too.

When I was 4 1/2 years old, I started having more severe respiratory problems where I'd quit breathing and go unconscious. But I am a fighter, so with the help of my family and other nurses and doctors, I've made it through some tough times. At age 6, I got a trach and it has helped me breath better and now I don't have to work so hard to breath. I can even be more upright for longer periods and I don't have to wear that mask on my face anymore because my vent connects directly to my trach and helps me breath during sleep and anytime I feel like I need a little extra help.

Even though I've had it tougher than the typical child, I am a very happy boy. You can probably tell from my pictures that I love to laugh and smile and cuddle with my family. And I love to play with my video games using my adaptive devices. I'm really good at it. I also love reading and watching movies. And I know that I'll never sit or walk (until a cure is found), but I'm very smart, so my brain is strong. And I have a lot of people who love me more than anything in life, so I know that I am luckier than most in some ways. And I know that I am special because I have taught my family what true love is and I've taught them what's important in life and how to appreciate every minute of it that they have with me. And they are forever grateful to me for that.

 

 
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