A full day in my wobbly world

I should start by explaining that I have a condition called Charcot-Marie-Tooth disease (CMT) Type 1a, also known as hereditary motor and sensory neuropathy (HMSN) Today I took my 4 year old son to see a paediatric neuro specialist for his first assessment after being diagnosed at 3 as also having type 1a CMT.
When I was pregnant with Sam I always knew the risk of passing it on, it is a genetic condition and there is a 50/50 chance of passing it on to your child. When he was a baby we saw a genetisist who advised no testing unless any signs of CMT started to show later in childhood, so off we went..my ex husband hopeful, and me feeling like it was a waiting game..I just wanted to know.
As Sam started to walk it became apparant that he was walking a little awkwardly, it was said maybe he had fallen arches..they would correct themselves. Then as he progressed he started tripping and falling seemingly easily..but was it just me? Then Sams preschool spoke to me about how they had noticed that he fell a lot, how he needed help on some play equipment..was there a problem? It was then I asked to get him tested, he was 3.
You would think it would be quite straightforward, no. The genetisist didnt seem to think he had it, or that symptoms could show at his age even though I explained that my symptoms started as a child, as had my sisters. However, he took his blood for testing and we were told we had a three month wait for results.
Two months later the letter arrived. I knew..I always knew, mothers intuition? So, it confirmed he had type 1a HMSN and that at some point he would see a paediatric neurologist.
Fast forward to today...8 months later! and at last he gets his assessment. Lovely Doctor, Sam will be with him until hes 16. He has been referred for physiotherapy, Occupational Therapy, and Orthotics. He is also writing to his infant school, where he starts in september to advise them of his difficulties. I wish I had had that sort of understanding when I was at school.
I so love my boy, he is the centre of my world...

For more information on Charcot-Marie-Tooth Disease visit www.cmt.org.uk