So fed up of having to fight for support for dd

[Moraldilemma84]

This is just a rant really but I need to get it out.
Dd has a rare genetic condition and is in a lot of pain in her bones and joints. She is on a huge amount of pain medication.

I spent 12 years being told there was nothing wrong with her and I was wrong, she is fine just small etc.
I stupidly thought once we had a diagnosis they would actually fucking help her!

Instead we get passed around departments all with huge waiting times and no one will help her.
She is 16 and can’t go out with her friends and be a teenager as she is in too much pain. She missed so much school etc.

We have been waiting 10 months for a referral to Rheumatology and it was meant to be next week and today I got a letter saying it’s been rescheduled for November!

Ortho did do an mri but it didn’t confirm for definite what the problem is. It did however flag a growth in her knee which is potentially cancerous so she now needs a biopsy etc on top of everything else she has to deal with.

Its so bloody unfair. She is so angry all the time which I completely understand, but I take the full brunt of her anger and I’m so exhausted trying to work full time, battle the nhs, her college (as they are useless at sorting anything) and look after her and her siblings.

That’s really tough and I’m not surprised you’re fed up and she’s angry. You’re right, she should be enjoying her teenage years with her friends.

I don’t have any advice or any way to help, but you must know you’re doing the best you can for her and all your family.

It’s the battles for everything which are the most exhausting. I am at the point where I know I need to make some phone calls to get more things moving for ds but the thought of the battle it will start makes me delay it.

the day to day care would be so much easier if things weren’t such a fight.

I’m confused - you say she has a rare genetic condition but then an MRI didn’t confirm for definite what the problem is. Do you mean that you think she has another separate condition that needs diagnosing?
Can you afford to pay for a private consultation with Rheumatology?

Thanks, it shouldn’t be such a battle just to get support for our kids it’s not ok.

Soontobe60 Sorry it’s confusing, she has what the genetic specialist described as a spelling mistake on her one of her chromosomes. Which means she has a diagnosis of a condition called pphp. However she is the only person found so far who has that particular spelling mistake on that chromosome. So the drs don’t know what problems is has/will cause.

They know she is is pain but the mri was to try and find which part of the joint is causing the pain so they can hopefully fix it surgically.

I would quite happily throw money at the situation to fix it but no private hospital who has a Rheumatologist will see her as she is under 18. I spent hours calling everyone within 150 miles months ago.