This blog was sent into our team by one of our followers who serves in the Ambulance Service:
‘Here’s some background data so that you might understand why I’m going to ask later a very fundamental question of you all.
A month or so back, my colleagues and I watched in horror as, what can only be described as a total nightmare unfolded for one of our own. We watched, waited, tried to support and understand the reasons why the complete arsehole of a universe collapsed for one family as a six-year-old child died of the complications arising from undiagnosed mitochondrial disease. For the non-medics out there, mitochondrial disease covers all sorts of different problems but the one sufferers name that you will probably know is that of Charlie Gard.
Little man, who was our colleague’s nephew, had started out in life as a normal, generally healthy fella. He’d had all his vaccinations, plenty of fresh air and exercise and loved all the usual things six-year-old little boys like (such as picking his nose, playing with his toys, making mud pies, being a nuisance to his elder sister and the like). When he started full time education, his teachers mentioned that he was reluctant to verbalise but was not displaying any other behaviours which would give rise to any concerns (he’s just a bit shy, that’s all). His concerned parents asked advice from the family GP and health visitor, who reassured them that he was a “late bloomer” and to not overly worry themselves.
A couple of weeks after starting Year 2, little man had become “unwell”. He was off his food, feverish and generally not his usual happy little self. Normal six-year-old stuff you might say. So did we all. The family had been sensible and had called an out of hour GP for some advice. GP’s advice was to attend the local walk in centre. Little man was admitted overnight for observations, where he became steadily more unwell and started to have seizures, which were treated with sodium valproate. The seizures got worse and little man started to turn yellow (his liver was failing). One of the staff asked the family if they would give permission to start tests for a rare condition called Angelman’s syndrome. Yup, I had to go look it up too.
He was quickly transferred to a specialist Paediatric Intensive Care Unit, where sadly little man declined very quickly and he died at a hospice near his home 10 days after initial admission “for observation”.
The only blessing (if you could possibly call it such) is that everything happened so bloody damn quick. No one really had time to assimilate facts or react before the next thing and the next thing and the next thing hit…….
Devastated and shell shocked is the only way I can describe it. But why the blog? OK, here’s why…
I’m not the sort of individual who peaceably goes on with things. I like to rant at the universe, question the sometimes light-bending density of our policy making members of parliament and don’t even get me started on how I would personally like to cure Stoopid in the general unwashed masses…however, I do like to try and make things a little better for those around me who I do respect and value (most of you, I hope, are bravely fighting your way through this literary disasterpiece and most of you are parents). So, the fundamental question is this:
“Would you as parents want to know if your newborn has a mitochondrial disease?”
I figured that as all newborns in this country are offered a heel prick test (for you non-parents it’s a piece of blotting paper with pre-designated areas on it and the blood is sent for testing for diseases such as PKU, sickle cell, cystic fibrosis amongst others), it would be quite simple to include another dot on this test. But as parents would you want this?
I ask because if I get positive feedback, I’m planning to raise a petition to make it part of the already offered screening programme.
Thank you for your patience and keep doing what you do…. You’re all amazing.’
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