Nicolas is 4 years old. He was recently diagnosed with L-CMD a muscular disease caused by a mutation in the LMNA gene. L-CMD is a muscle wasting disorder that also leads to breathing and heart problems. My husband Ruben, myself and our 4 children live in Florida. We are still trying to cope with this diagnosis. While a relief to get a diagnosis after 4 years of trying to find what kind of muscular dystrophy he has, we were shocked to learn that it is a fairly new found mutation. We struggled a lot to find a doctor who could help us until we found Dr. Wong and Dr Collins at the Cincinnati Children’s Hospital Medical Center with whom we started heading in the right direction.
Nicolas’ birth was normal except for a heart murmur which we monitor. As he grew we didn’t see anything different although perhaps we weren’t really looking. When Nicolas turned about 6-8 months, we noticed that he wasn’t meeting age and state goals like sitting by himself and crawling. We also noticed that he slouched whenever we sat him up. I thought he was just developing more slowly than other kids, but mentioned my concerns to his pediatrician on Nicolas’ 8th month regular visit. Back then Nicolas was a little chubby and his doctor answered that “he was being lazy”. Around 10 -11 months old, Nicolas started to scoot around on his bottom, however, while sitting on the floor he would suddenly fall back like an object without reflexes and little balance. Again I mentioned this to his doctor who referred Nicolas to a neurologist and that is when our diagnostic odyssey started.
Nicolas started walking at 15 months and sitting up with a lot of effort at 2 years. His upper body is very weak, hypotonic and skinny and he can’t keep any weight on. He does not have speech or cognitive delay. He still walks and kind of wobbles as he moves. His spine is a little stiff and arched and his head drops back when you lift him. He falls easily. He cannot jump or run. Even though Nicolas does not complain about not being able to do things, he does express a desire of wanting to jump or run. When he sees his little brother doing certain things he says, “Look how strong my baby brother is, I wish I was strong like him” but he is not bitter about it.
Nicolas’ lungs are weak to the point that he has to use a cough assist machine a couple of times a week to help maintain them and when he is sick he uses it twice daily. He also uses a nebulizer with albuterol and steroids when he has a cold to avoid pneumonia. He does PT and OT once a week and we do stretching exercises every night. He uses braces to sleep.
Nicolas has a great sense of humor. He can be a clown at times and likes to tease his siblings. He has a very strong and defined personality. He tries doing as much as he can on his own, but a lot of times the weakness and fatigue are stronger than his willpower. He is very loving and bright with an unbelievable memory and an almost adult vocabulary. He currently attends school on a Pre-K SPED program and absolutely loves school. His favorite subject is music and he likes to sing and dance. He often talks about going to college. I have to remind him that he needs to go to elementary, middle school and high school before that. He is very positive and hopes to grow stronger.
I love him so much I would change places with him any time, if I could.