Thursday, 2 May 2019

Stripe


I’m gonna science ya.

I’m going to tell you what causes Prader-Willi Syndrome, the chromosome disorder that affects my daughter.

Here you go:

PWS is caused by a baby not receiving active paternal genes from a specific part of one chromosome (chromosome 15). Around 70% of all cases of PWS are caused by a deletion, which means a tiny part of chromosome 15 inherited from the father is missing. Around 25% of cases are caused by maternal uniparental disomy (UPD), which means that instead of taking one copy of chromosome 15 from their dad and one from their mum, the child has ended up with two maternal copies. The remaining 5% of cases are caused by an imprinting defect.

Got it?

I’ll simplify. It’s a blip. A tiny miniscule error. In my daughter’s case it’s the deletion - a little missing stripe from one little chromosome. It’s not something you can test in advance for - no-one carries a gene that causes it. It’s spontaneous. It happens at conception. Let me put it even more simply...if the sexy luurve shenanigans had taken place on a different evening, it wouldn’t have happened. I’m sorry for planting that image in your head, but you’ll just have to get over it.

You can drive yourself crazy with ‘What if?’s. But it’s pointless. Because as much as you can rail against the unfairness of it and wish things were different, you have to look at another, bigger ‘What if?’. If we hadn’t made our daughter when we did, she wouldn’t have PWS. But if we hadn’t made our daughter when we did, we might not have our daughter. 


May is Prader-Willi Awareness Month. We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here and if you can spare a few quid then click on the Donate Now button on the right hand side of their home page.


Video is The Strypes - Blue Collar Jane

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