I took my son to the Neurologist for a follow up. Well the doctor suggested that he thinks it would be a good idea to do a tracheotomy because my son can not keep his weight up. I have tried everything to make him gain weight. He is basically on continuous feeds, gets baby food (through gtube), Liquigen and Duocal! With everything he gets through his tube, he still eats breakfast, lunch and dinner. Just not as much as a typical child. He is aware of what his Neurologist would like to do. We had a long discussion with him about how he now has to wear his Bi-pap all through the night and possibly sometimes during the day now. I have also taken him to get the opinions of his ENT and pulmonary doctors. They both do not feel that he needs to have the procedure done. So for now it looks like he is safe from another surgery.
When the kids were younger I use to love to take them everywhere. I remember it being a beautiful day, that is why I made the decision to take the kids to Target. It is also an outdoor mall so we like to walk around. When we were finished in Target, we walked to the car and I went to take him out of the cart. At this time he was only three and was still able to sit up. So he was in the front of the cart. Starting to pull him out of the cart and I felt his leg pull back down. His sneaker had gotten caught in one of the feet holes. I finally get his feet out and get him in his car seat. By this time he is balling his eyes out saying his leg is hurting. I told him to go to sleep and if it still hurts when you wake we’ll go to the doctors. He woke up about an hour later and wasn’t crying but if anybody touched his leg it would hurt him. So to the hospital we went. When the doctors asked him what happen he said “Mommy did it.” It was the worst feeling in the world. Never did I mean to hurt him and I had to make sure he understood that. I also had to make sure the doctors didn’t misunderstand what he was saying. They did the X-RAY and turns out he had a Fracture on his lower leg. He was excited that he got to pick out his blue cast! He is such a trooper. Needless to say, we found a different way for him to go to the store. He now lays down in the back of the cart on a blanket. He is now getting a little to big for the back and will have to start staying at home more. Hopefully soon he will be able to sit in his wheelchair for longer periods again. Maybe on the next post I’ll discuss why he is having issues with that. Feel for to leave me a comment.
Until next time,
The neurologist called to set up a follow up appointment for the results. We waited about ten mins for the neurologist, his assistant and a nurse to come in. The doctor sat right down and told me straight up that both of my children have SMA. Almost every site you visit tells you that most children diagnosed with SMA type 1 don’t survive past the age of two. Not knowing yet which type they were, I suddenly felt hot and nervous. The neurologist then went on to tell me how my daughter has SMA type III and my son has SMA II. I knew as the neurologist was talking to me he could see my face turning red and see me trying to fight back my tears. All I could think about is how I had to stay strong and not cry in front of them because I did not want to scare them. To be honest, I couldn’t even focus on what he was saying. Then a genetics specialist comes in to explain to you why your kids have a genetic disorder. Then a nutritionist and a physical therapist. All this happening right after you’ve just been told not one but two of your children (my only two BTW) have SMA. It was overwhelming to have all those individuals in one room all at once, while your mind is trying to catch up with what everyone has to say and the goals each specialist has for them. Whatever time I have to spend with my children I want to make sure I can give them the happiest life possible. I have two of the sweetest kids you could ever meet. I am grateful and blessed that they are mine.
When my son was born I already had an eleven month old daughter. So I kind of already knew about how many months old he was supposed to be to hold up his head and other infantile milestones he was supposed to be hitting. When he was four months old we would have to put him in a boppy with pillows all around him just to keep him propped up. After a while he would end up using his hand to help him keep his head up also. His Favorite toy was the Johnny jump. This jumper would keep him and his sister playing all morning. As I would watch my beautiful children play, I noticed that when Jr would try to push off to jump he would only use his toes to do so. I took him to his Primary care doctor and she would just tell me that he was a late bloomer. By six or seven months old he still was not able to go from a laying down position to sitting up. His PCP finally referred me to the MDA clinic in Tampa, FL. The doctors there set him up with a muscle biopsy but the results came back inconclusive because the surgeon was unable to get a big enough sample. After they informed me of the results, they never mentioned a plan on what they were going to do. They did give him a wheelchair though by the time he was two. Unfortunately, I had to find a new neurologist because the hospital in Tampa could not give me the answers I needed. This journey has taught me to always trust your gut instinct or your mother’s intuition (whatever you would like to call it). You are the voice of your children. You have to speak up if you disagree with the doctors and get a second opinion. I may have learned it a little late but now he has one of the best neurologists. Our first appointment with this new neurologist was great. He checked him over and we discussed why I felt something was not right. He agreed with me and said that he could do blood work to find out and that he wanted my daughter to also be tested. The results came back about two months later. FINALLY!!! After two years I found out that my son has Spinal Muscular Atrophy. Not only did he have SMA but so did my three year old daughter.
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Hi everyone! I’m going to start off with giving you 5 facts about Spinal Muscular Atrophy that you may or may not know already. This is just to inform you a little more familiar about their diagnoses. I promise after this post I’ll write some juicy posts. Like the craziest thing a nurse has said to me! Yeah, shes lucky she did not loose her job. Until then enjoy these facts!
5 Facts about Spinal Muscular Atrophy
- Sma is degenerative and terminal. Babies appear to be normal but eventually they start to lose the ability to sit, walk, talk, eat, and swallow.
- Although these children loose their physical abilities, they are very bright and SMA does not effect their cognitive skills.
- 1 in 40 people, unknowingly, are a carrier of the SMA gene.
- Normally, infants diagnosed with SMA type 1 do not live past the age of two.
- THERE IS NO CURE!
There may not be a cure but finally today the FDA approved a treatment to treat all types of SMA. Now to just to be able to get my kids the treatment hopefully! Best gift for us SMA caregivers!