Going to write quickly, just so it's all recorded, but I don't really want to dwell. Oh how I envy people who don't spent so much time at the hospital with their baby.
She asked me lots of questions about how he's changed over the 4.5 months since she last saw him, then examined him thoroughly. She confirmed he has hypotonia, most seriously affecting his arms, hands and legs and feet. His neck muscles have noticeably improved through the physio I've been doing with him. When she pulled him up by his arms from lying and instead of his head falling back, as it did until not long ago, it stayed 'solid' on his shoulders! Every time I pick him up or lie him down I incorporate an exercise the physio asked me to do... and it's made such a difference. Proud mama! His arms have improved a long way from where he started (little movement in his right, almost none in his right), again due to intensive physio from me, but are still very weak, particularly his left. It was hard to be asked "Can be do x? Can he do y?" and have to answer 'no' to almost all of them, and as she examined him she mentioned several things he can't do (i.e. push up at all with his arms, push against pressure with his arms).
Hypnotonia is just a symptom (muscle weakness/low muscle tone) so the next step is to try to get a diagnosis as to what condition it a symptom of.
She thinks he has a genetic neuromuscular disorder... that's what, in my layperson but googled-the-hell-out-of-because-he's-my-precious-boy opinion, I feel too. But even though I think it too, hearing it said by a doctor, and seeing how seriously she talked about various referrals was really quite upsetting. It made it feel real.
I guess I was hoping I might share my thoughts and she would say she didn't think he had a serious issue, but would make a referral to investigations to be sure. Instead, she was talking referrals before I even mentioned it myself.
Oh, my wonderful boy. You don't deserve this.
Next steps... MRI scan on his brain, blood tests, muscle biopsies and seeing a neurologist then once their investigations come back, a geneticist.
There are no available neurologist appointments at our hospital until February, but we may be able to see them at the hospital just very slightly further away sooner. I hope so. I know it may take a while, I know there's a chance we may not get a diagnosis... but if it's possible to know what Starbaby is dealing with, I want to know. I want to get an idea of what the future may hold for our wonderful boy and our family.
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