But he doesn’t look disabled.

The story of Margaret

Nicholas was born with Phelan-McDermid Syndrome, but we didn’t realise he had that condition until he was diagnosed at 3 years of age. After failing just about every developmental test, and having a preliminary diagnosis of autism, our paediatrican suggested that we get a genetic test done. The result was learning that he had a life-long condition, one that could not be cured by therapy or medicine. The results were de novo, a result of luck (or bad-luck). He didn’t inherit the condition, it wasn’t as a result of taking medication, it was just de novo – “of new”.

When I post pictures of Nicholas online, I am conscious not to post pictures that show him in a negative light. We certainly document “the bad times” so that we can remember what happened and when it happened, but when it comes to posting online I do try and post the most beautiful pictures of Nicholas that I can find. 

Pictures that can #sparkjoy in my heart.

I crop the photo’s carefully, apply filters and crop them to show him in the best light possible.

 

To me, my son is Nicky. I do not know him in any other sense. So when someone meets him for the first time after talking with us about his diability, they often say “but he doesn’t look disabled”.

Most of the physical indicators of his syndrome are hidden away.

His hypotonia is hidden by his clothes.
His lack of talking is hidden by his smile.
His lack of eye contact is hidden by his long eyelashes.
His lack of social interaction is hidden by his jittering energy.
His intellectual imparement is hidden by his magnificent head of hair.

Our friends, meaning well, will say “oh but all kids are fussy eaters” or “all kids are mischievous”. We have even had people say “boys will be boys” when they saw Nicholas dismantle something in their home.

But for us we know that he will essentially always be a fussy eater, he will always struggle with strength, environment, sound and social interaction. All of these factors will influence his ability to play, learn and make friends.

But he is our Nicholas and I love him to bits, and I can’t imagine him in any other way than the way god made him.