Where to next?

[Lahodges10]

Hi all,

I am posting on behalf of my brother in hope of some advice or signposting. I’ll try and keep it as brief as possible -

my brother became unwell ten years ago with alopecia totalis, a weird discoid rash and stomach issues. For concurrent years doctors felt he had some kind of ibd/ibs and general auto immune disease (their words) but nothing was ever done and all tests were negative.

Now his symptoms are -

complete alopecia

Deafness

Muscle weakness

Vertigo

Ongoing ibs issues

Chronic lymph nodes in neck (very big and were re scanned today and said again auto immune related) they have been like this coming on a year

Eye/mouth dryness

Skin rashes

Idiopathic Inter-cranial hypertension

Unable to hold a pen now (he’s an electrician so you can imagine how awful this is)

Fatigue

Last bloods showed weak positive for ana but doctor has said this is not relevant

raised crp

Raised iga

Raised globulin

I would think there are more symptoms but I am writing on his behalf and I’m unable to remember them all.

He has been tested for every auto immune disease (antibodies) and doctor has said all are negative, but agrees all symptoms are auto immune related. Rheumatologist at our local trust agree auto immune related but not something he could help with.

We feel as a family there is maybe something lupus related or another connective tissue disease.

We are currently looking to go privately to see a rheumatologist in hope they might be able to help as my brother is a young man with a family who is living his life at 10% and we’re now desperate for some help. It is not acceptable for someone that once played football professionally to almost over night deteriorate to what he is like now.

Any recommendations or guidance gratefully received on where to go or what we should do next.

Thanks again for reading my very long post. I’m very grateful.

Lauren

[StriatedCaracara]

There is Undifferentiated / Undefined Connective Tissue Disorder (UCTD) that some of us are getting diagnosed with if specific autoantibodies are negative.You say your brother's Antinuclear Antibody (ANA) was positive and it looks like he has the symptoms of autoimmune disease.

Hope you find the right specialist. Some people with similar symptoms may be able to say where is best.

The London Lupus Centre, London Bridge Hospital might be worth contacting to discuss possibilities.

Hoping everything works out well and quickly.

I used to do a lot of sport so was surprised by what happened. Shannon Boxx, lady professional soccer player, is an inspiration to me.

This post has a link to a playlist and mentions one where she speaks of her experience of Lupus.

healthunlocked.com/lupusuk/...

[Lahodges10 in reply to StriatedCaracara]

Thank you so much for your reply - I am very grateful.

We have able spoken to the London lupus centre today so they are currently a possibility, they look very good.

Thanks again and I’ll take a look at the link you added.

Lauren

[Galaxy2]

Hi Lauren

Professor David D’Cruz I believe is at the London Lupus Centre. I’m sure they’re all brilliant there, Prof D’Cruz was a specialist I saw early in my days of being diagnosed, I always remember him as being so kind, so thorough and positive when I was very low and above all he is so knowledgeable about auto immune disease.

I really hope your brother finds some answers and above all a diagnosis so he can hopefully get on the right path of treatment

[Lahodges10 in reply to Galaxy2]

Thank you so much for your reply. It’s actually just so helpful reading everyone’s stories here and seeing how supportive and kind everyone is.

Auto immune disease has felt very lonely for us a family and the support where we are (Essex, UK) is not good at all. Just reading some kind words which I’ve relayed back to my brother is nice to read and hear. There feels like we have some hope 🙏

Thanks again.

Lauren

[Galaxy2 in reply to Lahodges10]

It is such a lonely and frightening time when you just don’t know what’s going on. I used to see prof D’Cruz as an NHS specialist but it could take a while to be referred and your brother may not see him at Guys and see another one if the team. I too have a very complex history and subsequent diagnosis’s but once he is diagnosed and hopefully gets the right treatment, hopefully his life will turn a corner.

[Bobbydoodle]

Hi

I’m sorry you’re brother is going through this and I am sure he feels even worse that he doesn’t even know what is causing it, if cureable or manageable and if there is any help or medication for it!

If you state what part of the UK you live in someone here may be able to recommend a private specialist near to you.

[Lahodges10 in reply to Bobbydoodle]

Thank you so much for your reply, I am so grateful 🙏

We are based in Essex, UK. So we are close to London but can travel anywhere.

Thanks again,

Lauren

[dg70]

Hi my bloods are negative and I have been diagnosed with lupus and sjogrens syndrome. They often go hand in hand. The dryness could well indicate sjogrens. Find an autoimmune specialist rheumatologist, privately if you have to. They can diagnose from symptoms even if bloods are negative. Many people have negative bloods. He can go private then transfer back to nhs if he wants. My diagnosis came from a private appointment. You just need to find the right rheumatologist. Many can recommend someone here if you say where you are in the country. This is such a crucial factor in diagnosis. Hope he finds answers soon.

[Lahodges10 in reply to dg70]

Thank you so much for your reply. It’s very encouraging to hear that you was able to get your diagnosis, I feel like we’ve have some hope!

We are based in Essex, Uk so close to London but we can travel anywhere to be honest. We’re so desperate for help.

Thanks again,

Lauren

[dg70 in reply to Lahodges10]

London lupus centre your best bet I think if you can spare the money for an appointment. Might be the best 200 or so pounds he ever spends .

[Lahodges10 in reply to dg70]

Absolutely! I feel this is the right way to go. It’s amazing what a little research and speaking to others with experience can do, he’s feeling far more positive than he was 48 Horus ago

[dg70 in reply to Lahodges10]

So good to hear. Took me years of pillar to post tests with no result so I get it and so do most of us here. If he needs help in the interim with dry mouth and eyes then xylimelts which stick to your gum help keep my mouth moist especially at night, they are actually good for your teeth and gums too. He can to an optician in the interim for dry eye help. I find a usb heated eye mask twice a day for 20 mins so soothing (around £25 from amazon). Not being diagnosed is the mot frustrating thing but once you get to the right person in the right place then things will hopefully improve. 🙂

[Lahodges10 in reply to dg70]

Thanks again. You’ve really been such a help. We are very grateful 🙏

[lottagelady in reply to dg70]

Yes I have had to go private a few times now and I then get transferred back to the NHS for treatment, although obviously that could take a while, and in the meantime who pays the bills? Well worth it though, as you can see your choice of doctor who is a specialist in his/her field.

[lottagelady in reply to Lahodges10]

Dr Elizabeth Price is one of the leading UK specialists and is my Rheumatologist. She is in Swindon (easy 1hr commute from London). The mouth/eye dryness, fatigue, muscle weakness could indicate Sjogrens, but I'm sure there's more to it than that from what you've described. Sjogrens doesn't necessarily show up in bloods - mine doesn't, and Dr Price knows that and checks the other marker which is a Salivary Gland Biopsy, and gives you what's called Sero-negative Sjogrens. Only 5% of Sjogrens patients are male, and they tend to get it worse.

[Wytchylady]

Hi. The ANA results can be negative and it can still be Lupus, it varies, fluctuates. I've had positive results, then negative results and recently the DNA ANA has been raised again.A piece of advice I was given was to keep a note of symptoms and take photos of rashes, any visible signs such as swelling of joints.

I now have a very unique set of selfies but you can guarantee the day of the hospital appointment the rashes vanish.

Often people with autoimmune conditions can have a number of them and crossovers.

It's good that you've connected with Lupus UK. It's been my lifeline.

I hope your brother gets answers soon.

Regards

Sue X

[Lahodges10 in reply to Wytchylady]

Thank you so much for your reply. That’s a really good idea about the photos, I’m going to make sure he gets some.

Thanks again, it’s so good to just hear from other 🙏

[hildebeast]

Dr de Cruz is lovely. He's at Guys Hospital, Lupus centre of excellence. Ask your GP to refer your brother to him and request to see him ASAP. I have mixed connective tissue disorder which is 3 different autoimmune conditions mixed. Maybe your brother has a mash up of diseases. Hope you get sorted. Keep pushing and hopefully you will get some help. Xxxx

[Lahodges10 in reply to hildebeast]

Thank you so much for your reply. Auto immune disease is a clever disease! You’re absolutely right about seeing a specialist as it is just so specialised and needs the expert eye.

Thanks again :)!

[Wolfie_at_the_door]

Just hats off to you for engaging with the situation. I have no wisdom (recently diagnosed myself & exploring my future via my past it seems), but wish him and your family well. He is fortunate to have you in his corner.

[Lahodges10 in reply to Wolfie_at_the_door]

I wish you well, I’ve found doing my own research and finding some autonomy seems to be helping our situation. I work in healthcare myself so I have felt very frustrated.

Be kind to yourself and take each day as it comes. Wishing you health and I hope you are able to deal with your diagnosis and feel well. This forum really does seem incredible so it’s good to have you here 🙏

[Naladog]

I agree with everything that has been said. Keep this in mind for your brother's next appointment: lupusuk.org.uk/diagnosis/

I wish your brother all the best.

[Lahodges10 in reply to Naladog]

Thank you so much. That is so helpful 🙏

[BeeManShrop]

Hello LAH Very sorry to hear of the issues that your brother is currently coping with. Many years ago I too was an electrician of sorts and can appreciate from the problems you list, how difficult it must be to carry out even the basics of a job like a sparks . E.g. If he cannot hold a pen then he cannot hold the tools (pliers and screwdrivers etc.) needed for wiring. If he has dry eyes then he cannot see the connector points to be absolutely sure that he has connected the wires to the correct connectors. If he has vertigo he cannot use ladders safely etc etc. It must be so frustrating when he does not have a definite diagnosis and cannot see the path to recovery. (the light at the end of the tunnel).

I should say that I am no medic but my wife was diagnosed with Lupus SLE in 2020 and has had RA for some 20 years as well as symptoms of Sjogren's and Raynaud's diseases.

When you list the blood test results you do not mention ESR (which is an important indicator of infection alongside of CRP). Other key indicator or marker used for Lupus is the antibody associated with lupus i.e. anti- dsDNA. ( i.e. the level of tests below ANA that specifically look at the many, and various types of anti-bodies, to determine the one, or several of them, that are causing the problems. Similarly, Compliments C3 and C4 are key to a diagnosis). I think the point I am making is that the blood tests required are specified by the originator when requesting the blood test -- if they do not ask for the correct tests then you do not get the answers to lead to the true cause of the problem. If, as has been suggested, you go to Guys Hospital, I am sure you will be in good hands. You will need to ask for test results to be copied to your GP.

We have found that asking your GP surgery to give us access to "Patient Access" this allowed us to see for ourselves the blood test results every time a test was done. You can then see what tests were requested to be tested and (as important) what was not asked for. It is very handy to have the test results and their trends in front of you on paper (in advance of a consultation) when you are talking to the specialist or your GP -- you can then be prepared beforehand to ask appropriate questions.

Finally, it is very common for negative results that can mislead or be misinterpreted the first time around. They could well be positive in the next test taking you in an entirely different direction. It is also very common for delays of months or even years before auto-immune diseases are accurately determined -- you are definitely not alone. Keep persisting -- you will get there in the end.

Hoping these comments/tips are of help -- just a little. Good luck.

[Lahodges10 in reply to BeeManShrop]

Oh wow you are spot on…my brother has his own business and somehow muddles though although he has recently fallen off a ladder due to the vertigo and fractured his wrist…thankfully wasn’t worse…but like you say, with these strange symptoms work is not easy.

Thank you so much for such an understanding and helpful post 🙏

[Lahodges10]

I am overwhelmed with all your responses, as a family we are grateful.

We now have booked a private appointment at the London lupus centre with Dr Sanna. He has the soonest appointment and after reading up he seems great and has a wealth of experience. I will definitely pop a message on here once we have seen him.

Thanks again everyone. You’re all incredible people! 🙏