Are we there yet?

[Mom2Danni]

So my daughter saw the Paed rheumatologist at a Lupus centre of excellence yesterday. She was diagnosed as hypermobile at 8 and with "primary raynauds" yesterday, but when she was 6 and presently chronic inflammation in her thyroid and tummy, hair loss other lupus symptoms. Dysphagia in her oesophagus causing swallowing and breathing issues. Previously it was arthritis, rashes and all the other lupus symptoms. Is it really that hard to diagnose an ANA negative mild lupus sufferer with no renal involvement? Hell. Raynauds affects blood flow and may damage organs (her oesophagus?) but am I losing my mind. Chronic inflammation is caused by an autoimmune inflammatory disease? Raynauds does not cause chronic inflammation but a patient may have lupus and secondary raynauds.

[Buckley123]

Hey how are the swallowing issues now ? Xx

[Mom2Danni in reply to Buckley123]

The same. In Jan 18 she was rushed to A & E and they misdiagnosed her. She should have been put on high dose prednisolone, but the damage has stuck now. The only things left to do is to prevent further damage and to watch this..she is not on meds yet. Hopefully they will diagnose UCTD next week and start her on the anti malarials

[Buckley123 in reply to Mom2Danni]

Sorry to hear this I too have swallowing issues not as bad as your daughter but they are are looking at uctd also I hope she gets the right help and meds she needs and in return relief from her symptoms ❤️🙏

It can be a nightmare to get diagnosed I have no blood work to back me up so I know it’s challenging xx

[Mom2Danni in reply to Buckley123]

I feel for you. The thing is if they wait for blood work they wait for disease progression. I have told them for 8 years she has an auto immune inflammatory disease. Have they checked your thyroid as well? Danni's swallowing issues were not bad to start and then one day she couldn't breath as well and they misdiagnosed her in A&E. She should have gone on prednisolone for a few months to stop further damage, but they didn't know what to do.

[Buckley123 in reply to Mom2Danni]

Oh bless her ❤️ yes I have had thyroid checked although I get a lot of symptoms and I’ve had scarring of my brain and neurological symptoms lymph node issues muscle weakness twitching headaches and swallowing issues I still can’t get a diagnosis yet but I am on hydro.

Have you seen professor Cruz ? At the London lupus center ? If you live near by that is ? He dose seem to want to help.

Did it not show in Dannis bloods then for that long 😥 xx

[Mom2Danni in reply to Buckley123]

Prof Cruz only sees adults. This week she is in Great Ormond street for 3 days seeing a Gastro and Dr Clarissa Pilkington (Rheumatologist) recommended by Dr Cruz's secretary. So they put you on meds without a diagnosis or bloods? They were progressive enough to do that?

[Buckley123 in reply to Mom2Danni]

Oh yes sorry I didn’t think 🤔 I’m glad she’s seeing someone nothing worse then seeing a doctor that has no idea.

My son went to great ormond street and it is a good hospital xx

Yes seems so but it is the lowest dose and it was my neurologist who put me on it to try help bring down some inflammation xx

[Mom2Danni in reply to Buckley123]

Oh okay. You are lucky to have that intervention. It was GOSH that said nothing was wrong with her 8 years ago. I was convinced she had behcets (like lupus and UCTD) and this was shortly after she became ill. Right at the very beggining. They first said mild auto immune inflammatory disease and then retracted and did nothing when her ANA was negative. They did stabilise her for some time with anti inflammatories though. The anti inflammatories worked for something that was not auto immune inflammatory!? Not sure how that bloody works. It was Dr Brogan. Dr Pilkington is his clinical lead. I am taking matters further with Dr Brogan today. I don't want this to happen to anyone else.

[Buckley123 in reply to Mom2Danni]

I don’t blame you so would I !! As mums we know are children best ! Follow your gut!! Sorry you have to go through this it’s tuff I know.

My son has missing fingers on his left hand and a hirshspungs disease.

Tbh when we went to great ormond street they where good technology wise but I did find they wanted to treat my son as a guinea pig they are a good hospital but they don’t know everything they wanted to take a toe off my sons foot and put it on his hand I said no this was I think unnecessary to touch his perfectly good feet to create a toe on the hand The amount of doctors that were there as we turned out the pictures that they took it was like it was an experiment but I have heard a lot of good things about great Ormond Street hospital I hope your daughter can find relief from her symptoms and you find a doctor that can help you properly xx

[Mom2Danni in reply to Buckley123]

thanks...on the phone as we speak.....they are taking this seriously since i mentioned a personal injury claim....hope we have better luck this week. thanks. sorry you and your son had to go through that

[Buckley123 in reply to Mom2Danni]

He’s okay now hun kids are resilient I found complaining to health ombudsman helped and mp also good luck Keep us all updated thinking of you and Danni xxx

[Mom2Danni in reply to Buckley123]

I know. She just gets on with it. She is such an amazing person. My everything. I spoke to the British Society of Rheumatology. They are happy to accept my complaint and they will circulate it to all their senior clinicians for consideration. I will lodge a complaint again Dr B as well, but I am going to wait until the end of the week. I think I need to be calmer when I do all of this, so that they sit up and take notice. No ranting. I am going to be with my daughter for the next 3 days. Just be with her in hospital and when this week is over and she has a diagnosis and treatment plan, I will write those complaints.....Thanks for the chat. I calmed down and appreciate your support

[Buckley123 in reply to Mom2Danni]

No worries I think that’s a great plan good luck let me know xxx

[Pussbella]

I know you and your daughter are having a very hard time. I hope you get answers soon. It sounds as if your daughter is having very comprehensive tests at Gosh which is very positive.

I just thought the following might help and what I am writing is in line with Jimbo's helpful comments.

It is possible to have Ctds without the connective tissue problem being autoimmune. Jimbo has already mentioned Ehlers Danlos. The hypermobility form of EDS is, as the name suggests, associated with hypermobility which your daughter's doctors have already said she has.

At the moment the current thinking is that EDS (and some other connective tissue disorders) are not autoimmune - hence no positive blood markers. Instead they are inherited disorders.

If your daughter has a non autoimmune CTD then she will have had it since birth. There is nothing the doctors can do about that part and where the problems occur in the body cannot be predicted or prevented, just treated in the best way that medicine allows. My experience is even then treatments which might work for others don't work so well on an EDS body.

EDS is a systemic disease and can affect swallowing and the GI tract and also many other areas of the body eg joints, bladder. It has common co morbidities eg Pots and sometimes Mcas (see Eds toolkit for GPs or visit the EDS society website). There are, however, no systemic medications to help manage EDS which is different to autoimmune diseases like Lupus and RA.

The protocol with EDS is to treat problems when they arise and use lifestyle and dietary adjustments to also help. Different problems will arise at different stages and you are likely to have more problems than people with healthy collagen and spend more time at the doctor's surgery.

I am not saying your daughter has EDS and your doctors sound as if they are getting closer to what is troubling her, I am just mentioning the existence of EDS or an inherited connective tissue disorder in case something like this emerges - it would explain why she has no Ana or other major markers for autoimmune disease. . If she does have an inherited connective tissue disease rather than an acquired autoimmune disease as you have been thinking then your view of what has happened in the past and what is possible in the future might alter.

From a doctor's point of view EDS can be difficult to diagnose without a strong family history and to be diagnosed with something like this is your teens is relatively young and will really help her going forward.

If she does have an inherited connective tissue disorder this is very pertinent both for her treatment and other family members. There is a, 50 per cent chance her own children will have it. Even if they do severity varies so it is not something to be to worried about. The liklihood would be that either you or her father have it. If she has siblings they could also have inherited it.

A further thing to know is that under current EDS guidelines you can not be diagnosed with EDS if you have an existing autoimmune disorder. However, it seems if you have a diagnosis of EDS you can subsequently be diagnosed with autoimmune problems.

There are some rarer forms of EDS where the gene variant is known so can be tested in the blood. In general this is not the case with hypermobility form of EDS but the search for the gene is currently being undertaken.

You probably know all this already but just in case some of it was new I thought it would be good to highlight the difference between an inherited connective tissue disorder and an autoimmune connective tissue disorder.

In my family we have multiple members with HEDS of which I have a mild version which mainly affects my tendons and badder and the recently I acquired an autoimmune connective tissue disease, probably uctd/lupus like/sjogren's and I have positive blood work.

As your daughter is in Gosh it seems she will shortly be diagnosed. If she has a chronic problem whether autoimmune or inherited connective tissue she will need ongoing medical support. I know it is difficult but I would build as good and positive a relationship as possible with her doctors.

Very good 🍀

Best wishes

Pb