On February 19th he went to his four-month check up. I spoke with the doctor about his hypotonia and asked if it could be anything to do with SMA. He asked if I meant MS – Muscular Sclerosis. I said No. SMA – Spinal. Muscular. Atrophy. It was evident he didn’t know what I was talking about as he did not carry on the conversation but continued to examine my child. I spoke about my concerns with his chest, belly breathing and congestion. He ordered a chest X-ray and suggested I come back next week to speak with the pediatrician since he was only a family practitioner.
On the 21st, I took him to do the chest x-ray and on the 25th we are back at the doctor’s office to see the pediatrician.This was the fifth doctor we had seen, as there was no consistency in the military treatment facilities. He told me the x-ray came back inconclusive because of a shadow. I asked him if he thought SMA could cause the hypotonia and once again he did not want to carry on the conversation. While being examined, Thomas cried and the doctor noticed his tongue vibrating. He asked me if it always vibrates or if it was just when he was crying. I said I never noticed and didn’t think anything of it or why he might bring it up. The doctor said he would put in a referral for him to see a neurologist but it would take at least two weeks to find out who the neurologist is before we could schedule the appointment. I was so frustrated that we had no answers yet as to what was going on but was sure the neurologist could give me some insight.
On February 28th, I noticed his tongue vibrating while he was smiling at me. I immediately recalled the doctor bringing that up and knew there had to be a reason why. That day I was checking facebook and in the hypotonia group another mother was telling me about how he sounds exactly like her daughter who has SMA. She then asked me if his tongue vibrates and told me that is a major sign of SMA.
I then looked up the signs and symptoms of SMA.
- Absence of reflexes, particularly in the lower extremities
- Overall muscle weakness, poor muscle tone, limpness or a tendency to flop
- Difficulty achieving developmental milestones
- Adopting of a frog-leg position
- Loss of strength of the respiratory muscles: weak cough, weak cry, and accumulation of secretions in the lungs or throat, respiratory distress
- Clenched fists with sweaty hands
- Head often tilted to one side, even when lying down
- Fasciculations or twitching of the tongue
- Difficulty sucking or swallowing, poor feeding
I knew then that my son had SMA. Without a doubt he had every single symptom listed for Spinal Muscular Atrophy.
