Introduction - geowisc

Welcome New Member Introductions
1

I apologize in advance for the lengthy post. I wanted to introduce my son to the group. He's 37 months old, not walking unassisted (walks with a Nimbo walker), very unbalanced, and struggles with his speech. But man, this kid has a personality. He's quite the charmer. I hope that helps him get through the tough times ahead.

The Background:

We noticed around 9 months old that he was not only behind in milestones but was struggling to even keep his head up. He was diagnosed with hypotonia. Then around 1 year old we noticed he wasn't growing and had slid from the 50th percentile at 6 months old to off the cart at 1 year old. He had growth hormone stimulation tests (one around a year old and another closer to 2 years old) and was found to have partial growth hormone deficiency. We started HGH at 23 months. At 14 months he had an MRI which was normal. At two years old he went to see a pediatric opthamologist to rule out any issues with his eyes. We found out he had a very slight cross eye but that he wasn't seeing out of one of his eyes and could lose vision. We had eye muscle surgery to correct. He's had multiple blood draws for genetics (hypotonia panel) and levels of about everything you can think of.
Most everything came back normal - nothing was really a smoking gun.

Ataxia:

Around three years old our PT mentioned that she thought he was strong enough to walk but was a bit confused by his lack of balance. She did some tests on his eyes (VOR, saccades, and smooth pursuit) and said they were abnormal (but also that she's not a doctor). We went to see his neurologist and he agreed it was abnormal and sent us to get another MRI. I received a call from him on Feb 26th saying he has "mild" atrophy limited to the cerebellum vermis. It sounds like they (doctors) really have no idea what the prognosis will be. Will he walk? Will he talk? I guess my husband and I are just really trying to deal with it all - the guilt (it's likely recessive), the fact that he's going to struggle with speech and motor skills the rest of his life, and how much the atrophy will progress. We're waiting on prior authorizations to get genetic tests. I guess the future is so unknown I'd like to hear stories from other parents who's children exhibited symptoms early in life like our son.

2

hi. I’m new to the group but your story is almost just like my story with my son Tyler who’s 8 and just got diagnosed in February. at 9 months we noticed that something was wrong. he then got told he has hypotonia. then speech was not there just grunts. his balance was so bad that they said he had CP. which we just found out that it was a misdiagnosed. then at 2 years old he had a very rare cancer in the back of his neck. thank goodness we cought it in time it didn’t spread. then the disease list grew. he was told he has gates and other issues with his face muscles. then back in October his teacher and I noticed that has was getting worse by the day. watching him go down hill in walking take eating. can’t even run without falling. so we took him to DuPont in Delaware. they took blood on came back pocket. worst day of my life so far. I’m so overwhelmed by all this.
how are you get through this? I’m hoping that you keep in touch with me.
thanks for your story and support. I’ll pray for your son.
Lucy wells

3

my son too has the eye problem and now where’s glasses

4

your story is the same as ours. I’m. hoping that you can reply back to me. I’m dealing with the same guilty feeling and my husband is still in denial about it but is coming to realize that it’s real once he saw him at a doctor ap.