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...
I wrote that several months ago for another SMA mom to share on her blog....The feelings are still as fresh as the day that he was diagnosed...So much has happened and while I shouldn't focus on the losses it is impossible not to...You have hopes and dreams for your children and in an instant they can all be shattered and lost forever. I am so very grateful that our baby is still here because so many others have lost the battle and become angels. I fear the day that Noah comes down with a serious illness...It's fall and already so many SMA kids are in the hospital with respiratory illnesses.
When I sit back and think about it, it's not even the physical disability....if it was only that Noah was going to be wheelchair bound, I would honestly be okay with that. SMA is so much more than being in a wheelchair....It is losing the ability to swallow and the respiratory weakness that is so terrifying. To think that "just a cold" can take these precious little ones from this world, makes my stomach turn. Giving Noah sips of water and seeing him choke on it is truly heartbreaking. The fighting trying to get him to wear his BiPAP all night, trying different masks and all these things that come with the territory. It's really AWFUL.
I remember how lonely and terrifying it was sitting in the PICU after Noah had surgery last year. We were all alone, no one to visit and comfort us and give us the normalcy we desperately needed. The guilt I feel about having to leave Noah for hours on end alone because I had to work so that I had insurance to pay for this cruel diagnosis. I remember one night in particular leaving the hospital at 11PM and showing back up at 1:45 AM so that I could hold him for a while before I had to go to work. Wow how much we have aged in a year...The stress has been hard on my body.
My mom recently brought up an important observation. We were sitting talking one day....one of my bad days. I told her I didn't understand why people don't get it. Certain people have said why don't you just take a day and go do whatever...I said I don't have time. Our conversation continued on and she brought to my attention that prior to living with us she had no idea what the day to day was like and what Noah's daily care entailed. That was really an eye opener. She is totally right...no one sees what happens in our house everyday and so it's hard to comprehend.
On a positive note, several months after Noah was diagnosed I was added to a group by another SMA mom on Facebook. The SMA community is amazing and extremely supportive. You don't have to explain to them how you are feeling because they already know. Without other parents that have been through the hard stuff from diet to respiratory I wouldn't be the way I am today. Proactive is our way of life...and with SMA it's the only way you can be. The SMA community experiences shared with me have proven to be invaluable and I thank all of them for helping us along the way.
SMA is hard, the emotions run so deep and this has definitely been the hardest year of my life. In so many ways I have grown and had experiences I never dreamed of. I have an amazing little boy and he is a fighter. SMA will not stop us...we will NEVER give up. 