Additional Needs
Why we need the Special Olympics
by Jodi Shenal
on 3rd May, 2024
Diagnosis Day
When I dreamt about this day there were fireworks and celebration, there were tears of relief and a feeling that there was some kind of end to all the madness.
However reality didn’t quite match up to this.
It was all just a bit, ‘Oh okay, that’s it then’.
Tim had taken the day off - whenever we feel it is going to be big news, he takes a day off so he can be there to hear first-hand.
With only having limited holidays, he has to prioritise.
We treated ourselves to a nice breakfast and set off for the 40 minute journey to the hospital an hour and a half before the appointment was to be held (as I’m an early bird) and got ourselves there nice and early.
The clinic was really busy, I think they’ve had a huge revelation in the genetic world and so we were amongst many other families who were too getting their much desired answers.
We weren’t waiting long when we heard Zachariah’s name called out, we walked down to the room with anticipation in our eyes and both sat down to then take a deep breath.
The Dr was lovely, before she started she checked we were ok, asked how our journey was and gave Zachariah the attention he so loves to receive.
She then began to ask about Zachariah and what he enjoys to do.
She asked about his hobbies and whether or not he was in nursery. She was just so wonderful!
We are so used to going into these clinic rooms and being treated as a statistic or a number, but this lady was showing interest in our boy for who he really is.
I thank her for this!
And then she said it, she went into a different language and told us that Zachariah has a change in the TUBB2B GENE.
And there it was the condition.
But there was no celebration as such, there was just silence then a smile of relief.
For some reason it didn’t really matter so much anymore, with all the worries we were encountering with Zachariah’s health and feeding difficulties, the only thing that mattered was that he was well.
I had told many friends that I would consider adding to our family when we had the answers, however nothing seemed any clearer.
After searching for this answer since before he was born, it’s a little bit like a bursting balloon as it doesn’t seem to have affected our family too much.
I mean it’s great that we have the diagnosis, and I feel very blessed to have such an incredible hospital with an incredible team of Doctors who have worked so hard to find out why Zachariah’s brain didn’t develop.
And I am over the moon that it’s not genetic.
It was, as they described it, “a one-off, a fluke, random”. (I’m not entirely sure how I feel about these ways of describing my son, I could think of better ways, such as unique and exclusive, this somehow makes him sound more like a superstar).
It’s funny how we get so caught up on the language people use when speaking about our children.
We are so blessed to have these answers, and I will never take it for granted as I know it is not as simple for other families.
My message to those families, is don’t get caught up in finding answers, enjoy your children and put your energy into making every moment count.
Much love! xx
