Hi :) I'm a mom to many kids (a few of them with special needs), but we are most concerned with our 4 year old DS. He saw a ped neuro when he was 2 and had an EEG & an MRI of his brain (both were normal). He was diagnosed with hypotonia by the neuro, along with a pronated stance, and flat feet. She had other concerns (she called him "quirky"), and we were supposed to have a follow up with her, however, the appointment was months down the road and our insurance changed during that time and we weren't able to see her again.
We've had concerns about his development since birth. He was late with all of his physical milestones, but not so late that the doctor was overly concerned. For example he didn't even roll over until he was almost 8 months old. He didn't crawl until almost a year, didn't walk until almost 15 months, etc. Even when he did learn to walk, he would fall down ALL the time and bump into things. His balance & coordination have always been poor but we just chalked it up to the hypotonia.
We enrolled our DS in Early Intervention shortly after he was dx with hypotonia. He was receiving OT, PT, and speech therapy. By age 3 he was released from the program because they said he was "typically developing" and didn't qualify to move on to the next program for kids over the age of 3.
Over the last year and a half we tried to pretend that things were normal and that DS was just overly clumsy becasue of his hyptonia. But, we were still skeptical that he was "typically developing" as we were told by EI. He is still falling down and running into things ALL the time. He complains of leg pains, not wanting to bear weight on his legs at times, having trouble climbing things, being tired even though he hasn't walked very far at all, etc.
I took him back to our family doc last week as it had been a while since we've addressed our concerns with our doc. We did have his vision checked by a pediatric eye doc twice this past year and his vision is normal so we know his balance problems are not related to poor vision. His doc asked him to do a few things like climb up on the exam table and DS couldn't do it. However, our 2 year old DS who is really tiny for his age could muscle himself up without any problem. Our doc said based on DS's tall stature (he's in the 97th percentile for height & weight), that he should've been able to climb up on the table. After explaining all of our concerns, the doc mentioned "muscular dystrophy" as a possibility and I felt like the wind had been knocked out of me :( MD was never on our radar prior to last week. I made the mistake of coming home and Googling and of course the things I read were pretty scary.
We're waiting on a referral to see a specialist. I'm not sure who his doc is referring us to yet. It will probably be another neurologist and we may be seeing a geneticist as well. I'm just really hoping & praying that this comes back as just a bad case of hyptonia.
Thanks for listening and letting me get this all out :)