Our Story- coming to a diagnosis........

Noah was born October 4, 2010 after 2 years of infertility treatment. What a blessing he was and still is to Lane and I, beautiful and perfect in every way. At 7 months old I had to return to work, so Noah was put in daycare. He ended up a few weeks later very sick. Within 2 weeks of that illness he was no longer able to stand or bear ANY weight on his legs. He also stopped eating well. Our pediatrician was more concerned with the diagnosis of failure to thrive then lack of weight bearing...she said he was just being lazy....So for the next month we concentrated on that diagnosis. We saw a gastroenterologist who thought he had cystic fibrosis. I knew that wasn't possible because I had the carrier screening while I was pregnant, so at that point they set us up to see a nutritionist. One week from seeing the nutritionist and Lane lost his job. We had wanted to move to Utah, to me it is home....So Lane applied to some jobs in Utah. A week later he was on a plane headed for an interview. He got the job and we moved cross country just 2 weeks later. Once we got out here I set Noah up an appointment with a pediatrician to continue on our failure to thrive journey. We were blessed to have been led to such a great doctor. She was extremely thorough and I watched carefully as she checked him out inch by inch. You could tell she was very concerned. She checked his reflexes and they were absent. At that point I knew something was very wrong with our little miracle. She didn't say specifically her thoughts but referred us to an ENT (chronic ear infections/several ear drum ruptures) and a neurologist.

The following week I took Noah to the ENT and the decision was made to have ear tubes put in. I started my new job 2 days later so Lane had to take him to the neurology appointment. It was September 29, 2011.... I was very anxious the day of that appointment....around 11:00 I got a phone call from Lane. I was unable to answer because I was in training so he left a message for me to call him back. I could hear in his voice that the news was bad. I cried before I even talked to him on the phone. Once I collected myself I made the call. Lane briefly explained what the doctor had said which was she was sure Noah had what is called Spinal Muscular Atrophy. I lost it...I couldn't breathe, I couldn't speak...I sat in silence.

I only knew what SMA was because after seeing the pediatrician I got on the internet and was searching for every possibility. I had it narrowed down to 2 diagnoses. Cerebral Palsy and SMA. Never before had I even heard of SMA.....Now my worst fear was confirmed. We were told that we would be called with the results of his blood test in two weeks. Only 6 days later I got the call from the neurologist, the day after Noah's 1st birthday, the blood test was indeed positive for SMA.

It has been a hard road, he uses a feeding tube to eat and relies on many other machines to keep him healthy. These machines that I hated in the beginning I am thankful for. They keep my baby strong and healthy.

I never imagined that this is the path in which we would travel, but I will say I wouldn't have it any other way. God has blessed us with an amazing little boy, that is full of life and enjoys every minute that he is awake. It's hard but we continue to fight the fight...