Help! Daughters world shrinking.

[Cenosillicaphobia]

Advice needed really. My daughter is now 18 - has had very painful joints since about 14 years of age with chronic fatigue. Since this began she had to give up sports at school and riding ponies. Seen GP’s over the years and haven’t really gotten anywhere. Seen a rheumatologist once several years ago who put it down to late nights and wrote us off.

Fatigue and pain has been getting worse. She tries to carry on working as she doesn’t want to give in but she comes home after a six hour shift like she has the flu. Hot, visibly flushed, headache and needs to sleep. She hasn’t gone to uni this year as she wanted to put it off, in the hope that next year she will be bette - there is no way she could cope with uni as she is right now.
GP has done more bloods that show nothing, suggested it’s probably chronic fatigue. I’m booking her an appointment with a private rheumatologist but not sure how that’s going to go.
Not sure what to do. I fee so incredibly sad for her, she can do less and less all the time and now her hair is thinning and falling out.
Has anyone had similar symptoms and got a diagnosis?

Do you know what blood tests have been run? I am wondering if she has been screened for coeliac disease, her rheumatoid factor looked at and also her thyroid? Chronic fatigue syndrome is a diagnosis of exclusion. It shouldn't be handed out without excluding other possible conditions. Does she have any bowel symptoms?

I really feel for your daughter and for you. I hope you get some answers soon.

Which tests have been done? And which conditions have been ruled out?
Has your GP not made a referral in four years of ongoing symptoms?

Thanks for the reply's. Took two years for a referral to the rheumatologist who then basically fobbed us off. No referral anywhere since.
She has had X-rays on her painful joints and full blood tests several times. No, no bowel problems. Going to ask if they have taken bloods for lupus. Really not sure where to go from here or what to ask for 😞

What is her flushing like -any pattern?

I read your OP and also thought of lupus.

It’s her cheeks that flush, she feels hot all over and her cheeks flush really red, but not in a butterfly pattern.

full blood tests - there is no such thing.

You need to know which tests were done and what the results were. Get copies.

She needs a list of bloods that have been done it could be anything autoimmune from lupus or vasculitis or something like a hormone imbalance or thyroid issues. She needs full thyroid and probably vitamin b and d, ferritin, crp, etc. you need to cross reference them too as what nice guidelines say is ok is not necessarily optimal

Absolutely this. Ask if they have checked for ANCA levels and autoimmune conditions plus coeliac. I had similar symptoms years ago - not all but some and not going on for this amount of time - and it emerged was a major flare of vasculitis (ANCA+) leading to being very unwell in hospital and later down the line also a coeliac diagnosis.

I’d have her thyroid checked - chronic fatigue and hair loss can be caused by this being under active

When we went for a second opinion as my daughter was ill with very similar symptoms the results from the full blood tests ran to 37 pages.

It's very unlikely a GP has ordered "full" bloods.

I agree with the others - check thyroid. T3,T4 and tsh. You may need to get them done at six month intervals as thyroid problems can change over time.

Have you considered mast cell activation syndrome? Some of the symptoms sound similar to my daughter. Sending gentle hugs

Thanks for all the suggestions, really appreciate it.
Daughter logged into the nhs portal and got her tests. We could see has had Hba1c, Fbc
Ferratin folate and b12
Crp, electrolytes
Lft and bone
Tsh thyroid. These were last month’s tests, can’t find the previous ones.
Her notes from the Gp say the rheumatologist said “probable chronic fatigue” and that seems to be what the Gp is sticking with. I just don’t feel that’s whats going on here, maybe I’m wrong. Also they put ankles unremarkable which is strange considering they audibly click loud whenever moved. You can hear her walking around because it’s click click click, and she walks pigeon toed because they are so painful.

Thanks again for all the advice, feel I have a few more suggestions at the next appointment.

My partner had ME and was under Kings in London for it. He did largely recover from it, had it for about three years where life was really poor (prior to me knowing him). He said Kings were fantastic, they have a special unit for it and I think a lot of the help he had was CBT focused. If they think it is ME/CFS, maybe see if you can get under a unit?

Can you see the results from the tests or just that she has had them?

For most things there is an NHS reference range which is considered "normal" and anything outside that isn't.

It's worth you trying to get the actual results.

My, now late, sister was diagnosed with Rheumatoid Arthritis at 17. My parents took her to a private Rheumatologist as the doctor was dragging his heels saying it was 'growing pains'.

She was hospitalised for weeks for bed rest whilst they stabilised her. I don't know if they do that now. It was obviously a difficult time, she missed a lot of her sixth form years and studied for her exams from home.

Having said that, when she came out, my parents bought her an old car and she pretty much resumed her life. Picked up with her friends, went to parties, passed her exams, went to university, had a lot of fun, travelled, got a good job, went onto a senior role, got married, etc. My Dad often said he wished they'd bought her a better car at the time but, during the days of her initial treatment, they didn't really think she'd be able to use it much.

Yes, she had some challenges, and did spend further time in hospital over the years but I believe treatments are much better now. She did find that her condition was not well understood and each time she moved GP had to educate them - she was her own advocate and very involved with the support groups.

Take it one day at a time OP and all the best.

Rheumatologist seem to be in really short supply so I'd get on booking that appointment with a different one if you can, ASAP.

And I'd be really honest that she's had these issues, and you feel no one has got to the bottom of it. When you book the appointment could you list out her issues, making sure you mention the joints, flushing, hair loss, fatigue etc.

Any weight change? Mouth ulcers?

My DD had painful joints and fatigue (amongst a raft of other things) from 10 onwards, until she was finally diagnosed as coeliac at 12. I had to push and push to get her tested and diagnosed, not just have it dismissed as ‘anxiety.’ It seems there may be a few things she could have, but has your daughter been tested for coeliac, OP?

Sympathies, I hope you get some answers soon and your daughter’s health improves.

With the test results you should be able to see the results and the normal/expected range. Start a spreadsheet/table to bring them all together.

Can you access her records via a GP surgery portal as well as the NHS app? I find the GP portal easier to navigate than the NHS app.