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Test results due soon and I'm terrified

1 reply

IntrovertedUnicorn · 20/11/2019 18:39

Hi all.

In May, my daughter (now 18 months) spent a week in PICU due to complications with a tummy bug. It's long and complicated, but they realised that she couldn't break down ketones into fuel, so they stayed in her blood and made her critically sick. The doctors have been amazing, and have said that it is most likely a genetic disorder, and they took some blood for a genetic test.

The disorder they think she has is extremely rare. There have been fewer than 200 people in the in the world confirmed to have it, so, as you can imagine, information and support are non-existent, and our family and friends don't really understand it. I can't blame them; her general paediatrician had never heard of it before, so I can't expect anyone else to!

I thought I was coping with it all. She needs to eat every few hours, day and night, so I'm completely exhausted, and she's had a couple of hospital admissions since for minor infections (a precaution to prevent her from going into starvation mode when she's unwell and unable to eat) but I had thought I was coping. The past couple of weeks, I've been feeling sick every time the postman comes, in case they have another hospital letter. I want to know if they've confirmed the diagnosis, but I'm so scared of them confirming it, because it means that it wasn't just a weird reaction, but that my baby has a condition that could kill her if we're not careful. I'm so scared.

OP posts:
onemorecakeplease · 20/11/2019 19:28

Oh I'm so sorry for you, what an awful thing to be hanging over you.

The thing is, whatever the diagnosis you will cope. You will be an amazing mum to her and you'll all get used to the new life she has to live.

It's really crappy that she has this tho and you have poor support with it being so rare. Is there any way to contact families who have the same diagnosis so you can chat to them?

Sending big hugs 🤗

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