Special Needs

Extraordinary you

It was a Friday afternoon and we were packing up our things to head out on a long trip glamping with friends in the Cotswolds. We were waiting for a delivery to arrive before setting out which we needed to take with us, a delivery of gluten free bread rolls. If you ever need good gluten free bakery items then (no sponsorship here) I really recommend you try out the Wheat Free bakery because it’s been our saving grace a fair few times now.

Before the bread rolls arrived another letter fell through the letter box onto the floor, you can always tell when it’s an NHS letter by the envelopes they use and the stamping that is place on them. This one was from a London hospital which immediately got my attention, I always suspect that letters from this hospital might be updates for the 100,000 genome project which we entered into as our last real hope of a diagnosis for Ariella with current methods. As I opened it and read the letter finally that day had come.

I rarely can recall moments in my life that do two things, firstly time slows down. That so rarely happens to me ever, this is definitely one of those moments which I was able to think about a billion thoughts in the seconds it took to read the first sentence telling me it was the results. Time genuinely feels like it slowed down. Secondly I knew it would be a turning point, that it would be a day that I remember forever and would change us one way or the other as a family no matter what the results were. If they diagnosed her with a condition then we would finally get that illumination of her potential future, how or why it happened which would be amazing but also potentially terrifying. Or they give us no diagnosis and we would have to accept that we had hit a dead end and most likely become comfortable with the unknown for a very long time but at least know that we had ruled out a huge amount of other diagnosis.

As I read down It said “no clear cause of the condition in the family has been identified” and I felt this crushing hopelessness. We all still agree it’s clearly genetic, clearly but she is so rare, so extraordinary that science doesn’t know why life is so much harder for her than her brother. While one of the many benefits of being part of this project means they will continue to keep us updated should they ever put the pieces together to find the needle in a haystack, they’ll let us know. I am really glad that we have ruled out so many other conditions, for now being a SWAN (syndrome without a name) will just have to do!



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