To ask how many are suffering from a longterm undiagnosed illness?

[SinkGirl]

Last night I sat sobbing watching Diagnosis on Netflix (a programme where a doctor writes columns about undiagnosed patients with unusual symptoms and tries to crowdsource answers). It’s so wonderful to see these people getting answers that are helping them, and rather selfishly I’m sobbing because I don’t think I’m ever going to know what’s wrong with me. And it makes me wonder how many of us are in this situation?

It’s nothing so dramatic as these cases, no one would ever be writing an article about me, but it impacts my life, stops me working full time, affects my parenting. And above all I’m just really sick of feeling so awful and being so limited. It has been going on for over 10 years now.

I’ve posted about various aspects of this under various usernames over the years. I’ve had to become an armchair medical detective because god knows nobody else is going to care. I’ve narrowed it down (I believe) to a hormonal issue but despite searching I’m yet to find an endocrinologist who really specialises in female hormones - diabetes and thyroid, sure, but no one with expert knowledge of the intricacies of female hormones. Everyone says it sounds like my thyroid, and it does cover pretty much every symptom, but tests from the GP have always come out well within normal range. I’ve done some private tests which are closer to being out of normal range, but not enough. Even thyroid antibodies are in normal range.

I’ve had every basic blood test you can think of and nothing shows up. I’m told it’s ME or fibromyalgia but they don’t cover everything that’s going on. Main symptoms are fatigue, pain, peripheral neuropathy, heart palpitations, body temp issues, bad skin, hair loss, gastric issues, and more.

I recently had a period of two weeks where everything improved but new problems started (high pulse, high BP, like I was on a stimulant)... then it all came back. Then a smaller improvement, then back. Then a tiny improvement, then back. I tracked it all and realised it was related to my cycle. The first half of my cycle was when the improvement occurred each month for a few months right up until ovulation, and each month the improvement diminished until there was none. This has happened exactly like this before, when my hormone levels change due to coming off hormonal contraception, pregnancy, breastfeeding etc. But there’s been no recent changes.

I’m baffled, doctors just shrug at me. They think I have health anxiety I’m sure but I really don’t - I don’t worry that it’s something awful or whatever, I just want to feel well, have energy, not be sitting here watching CBeebies yet again because I can’t move.

I’m wondering how common this is - how many of us are dealing with this? As GP time is under more pressure and we see different doctors more often, etc etc, how many people have shitty quality of life for reasons unknown?

I don’t want to go on like this any more, especially when I know I can feel better, I just don’t know why.

Has anyone been through this and come out the other side with answers or an improvement? Is anyone where I am now? How many are struggling on in silence because no one is listening?

I feel like we need to take the idea of this programme and make something for people like me and others like me - no one’s going to be falling over themselves to figure out how to make something like this go away but there could be so many other people with the same issue, I can’t be the only one.

Have you heard of Ehlers Danloss?

There is something in EDS which links to hormones - a friend of mine is basically allergic to her own period and flares up every month. Something about mast cells

I have endo, and fibromyalgia and M.E and all of these combined dont explain all the health issues I have. I've been able to armchair diagnose myself with PMDD but it took years of trying to work myself out to explain it in a way which people with PMDD could say to me, it sounds like you've got what I have.

I've had hormone issues since I went through puberty. The chronic fatigue, pains, blah blah blah, have all started albeit gently, when I was a wee child.

One of the reasons I'm not trying to see a GP this summer about pain which has become debilitating past anything I'm normally experiencing, is because despite my having a very good understanding of the basics of the problem (and that it's because of a nasty accident I had 1.5 years ago), the doctors don't listen. It's always "it's your fibromyalgia". Well I know this isn't. But I have pretty much given up any kind of fighting. I'm too tired.

I'm in the same situation. Including the on and off seeking help. Have been for more than a decade.

Have been referred repeatedly to neuros for almost 20yrs. Everything has been blamed on migraine. Then chronic migraine. And now, earlier this year, Fibro. Though I expect CFS/ME will be added to my diagnoses.

I'm not even a shadow of the person I used to be and can barely recognise myself anymore. I used to be very active and now I can barely get through my days doing only essential things. I hate how this has prevented me being able to play and interact with dd as I should be.

I used to watch House (can't remember the actors name - thanks brainfog!) and wish that there was a doctor who would look into my health that way and figure out what the hell is wrong with me.

I've considered going private for some other opinion, but I cant justify it when I don't even know which speciality would be best.

Also been struggling to maintain my career. I've been off work more than I've been there over the past 2 years and honestly don't feel capable of working still at the moment. I'm going through sickness procedures and close to being dismissed. Have all that to deal with again when I give returning a go.

I've considered applying for pip but don't have the energy to fight through that system.

Am thoroughly fed up.

I have your symptoms and a diagnosis of periodic fever syndrome

If you don’t quite fit EDS symptoms there is Hypermobility Spectrum Disorder. Can also have loads of extra symptoms but can be just as severe in how it affects your life.
I didn’t get a diagnosis till a friend with hEDS pointed out the similarities and even then it took around 4 years to see a specialist privately as no GP or regular consultant had enough knowledge or would take me seriously with my long list of seemingly unconnected symptoms. Ended up shouting at one once when yet again they said it was just depression and that finally got my referral. I’ve gained a few other diagnosis’s for things along the way! Got a lovely long list now.

Another vote for Ehlers-Danlos. Particularly if you have any hypermobile joints at all as it’s not always easy to tell yourselves as the joint range is just totally normal to us.

I developed constant pain/fatigue at 15 and there is definitely a hormonal link. I took part in a study that looked at the triggers of the condition as while you are born with the faulty gene for some it often doesn’t trigger until hormonal event such as puberty, taking the contraceptive pill or pregnancy.

The condition also often gives heavy, painful periods and so many with it end up on the contraceptive pill in the early teens for that reason not realising that estrogen acts as both a trigger and causes an increase in symptoms.

Similarly men have the faulty gene at the same rate as women but in the whole suffer less. They think this is down to a mix of hormones and muscle structure. Of course there are exceptions to this and I know men with it badly too, but on the whole it hits women a lot worse.

The average rate of diagnosis is that it takes around 10-20 years after symptoms start and a huge amount of people are undiagnosed or have been misdiagnosed.

It’s the most frustrating, tiring thing in the world when you don’t know what is wrong. Doctors tell you it’s in your head, or dismiss you. Sometimes you then begin to doubt yourself but keep going and keep fighting to find your answers.

I have nothing to recommend or suggest, OP, but wanted to say I feel for you. Trying hard to help my children get a diagnosis and can relate to a lot of what you are saying. I am sure you have done this but a diary? A really detailed one? I have actually found it useful just in terms of evidencing how my child is affected/the degree & regularity of illness they have to deal with. I really hope you get somewhete and soon.

I've just watched that, spent 2 years going through tests now and not well enough to work. They have now found mini-strokes on the brain MRI and they've found lots of infections, anaemia, enlarged adrenal gland, bladder issues but all/most the symptoms started together and there's nothing to tie them. Often you feel like the doctors don't care that much but then you get one who does. People often tell me you should be happy when a test comes back negative but just cry because I want a solution. When they said mini-strokes with high risk of stroke thought I will finally get some help with something but no just got signed off. I've got rereferred but doubt will get anywhere.

Hi Sinkgirl, I can so relate to the reaction you got watching the show. After trying to find an answer to my symptoms which have been occurring over ten years now I have kind of given up.

What has surprised me though is how quickly you’re dismissed if the problem isn’t easily identified. I’ve never seen an endocrinologist, or indeed anyone other than a GP about this issue. And it’s not even like they explicitly say “sorry, we can’t help you” - nothing happens. I go through phases of years where I just stop bothering, and then I’ll think no, this is really not right, there must be something going on here and I go back and ask for more tests and they’re normal and I’m back where I started.

Yes this is so true. Over the years I have gone and tried to find answers several times. I have had so many tests but they always lead no where and I give up until I have a particularly bad bout of the symptoms then I get motivated to try to find an answer again and so the cycle continues.

Just in case anyone here happens to have suggestions, I basically seem to have an intolerance to exercise, after I exercise I will have (to varying degrees of severity) palpitations, weakness and weird symptoms when I go to sleep including waking up gasping for breath a few times over the night. Although it doesn't just happen after exercise but that seems to be a trigger. Also some muscles pull really easily through very little force and my joints crack a lot.

Saw a Cardiologist who didn't find anything. After researching am thinking maybe I've got some random genetic disorder or mitochondrial mutation.

Best of luck to all those searching for an answer :)

Yep. Although I did eventually get a diagnosis, it took a veeeerrryy long time, and I had to really push to get the right tests to confirm it.

The most infuriating thing was the more I researched and learned about the illness my symptoms were pointing to, the more the doctors were dismissive of me, the more I heard the words 'health anxiety'. I never had health anxiety but have had a whole lot of treatment for anxiety that I didn't need because apparently that is what was causing all of the symptoms. Nope. All along I had the exact illness I thought I had based on the symptoms. It's like if you ask for a specific test, that almost guarantees you won't get the test. You'll get a prescription for anti-anxiety pills. Oh, and if you go to multiple doctors for second opinions you Definitely have health anxiety in their minds.

It's better now I have the right medication and treatment, but I resent the process of getting diagnosed and all of the 'health anxiety' bullshit that I believe still affects doctors opinions of me since its in my records.

My symptoms were very similar. I was initially diagnosed with ME, but after around 16 years of appointments and a lot of frustration, I was finally diagnosed with POTS and then with Ehlers Danlos. My symptoms are definitely affected by hormones. Good luck with getting answers

I was around four years of age I believe when I fully lost the ability to sneeze. No sensation, no nothing even to this day. Nobody had noticed this whilst I was growing up so I figured this was a normal thing to happen however, I now know this is abnormal after doing some research throughout the years. I've never found any answers and I seem to be the only person in the world who has permanently lost the ability to sneeze. I'm always meaning to tell my GP but I keep forgetting (No doubt I'll just get a shrug and a clueless look!). I do have to clean my nose once a day though which I suspect is due to not being able to sneeze.

This does sound to me like a thyroid issue. My mum, sister and good friend have all suffered very similar symptoms. We have family in Germany and have found out that the thresholds for treating hypo and hyperthyroidism are quite different there. In my friend's case, she suffered for years in the U.K. but since moving to Germany she has been getting treatment and it has transformed her life. Is there any chance at all of you getting treatment in Germany? Do you have an EHIC card?

Thank you so much everyone, and to everyone in the same boat. I totally agree - if you dare look things up, order your own tests etc you’re assumed to have health anxiety. One GP said to me “doing these tests is making you anxious” - I said no, not knowing why I can’t get out of bed is making me anxious.

I do have a lot of stress, but I was like this before - even after I had to stop working for years and had no real stress, I was like this. It’s infuriating. Just sorting out the boys for nursery but will look into all these things. Have never heard of some of them.

I could have written your post too OP, for the last few years I have been exhausted. In my mind, it seems to have been triggered by a really bad asthma attack when I had the flu. I was in hospital for a week and since then I have not been OK. I have other vague symptoms, joint pains, allergies I've not had before (14 at last count, diagnosed by skin prick testing) weight gain (partly due to inability to exercise at all, but also down to steroids potentially). My hands are tingly, I have no physical strength anymore, stomach trouble and I'm 99% sure I've got a prolapse which is possibly unconnected but it seems to have happened in the same time frame. The tiredness is the worst though, some days I have to sit down after unloading the dishwasher to gear myself up to put all the dishes away. Some days I have 2 naps just to make it to dinner time, and even they don't help particularly. I was told by various physios in my teens and early 20s that I'm hypermobile, but nothing ever officially diagnosed. I'm far less flexible these days, although when I saw a physio for neck pain a few weeks ago, she still noticed it even though my range of movement is seriously limited because I'm much fatter than I used to be.

Blood tests have all come back normal, I was naively hoping for something like a b12 deficiency or thyroid problem because that can be treated, but my bloods paint a picture of a perfectly healthy 33 year old woman. So why do I feel like I'm 83? I was always healthy, and looked much younger than I am, but my face has aged 10 years in the last 2 years.

I'm so fed up, some days I just cry and cry. It sounds stupid, but I feel like I'm mourning the life I should be having.

Mite if you have the means, I’d have a look at Hormone Health or London Hormone Clinic - from reading through everything here I’m going to start there, even though they’re talking about being over 40 and I’m not. But I really believe that the pseudo-menopausal treatment I was on has just messed me up.

Except just now in the car I heard a news story that combination HRT gives you a 33% higher chance of breast cancer so now I don’t know what to do.

From reading up last night, it sounds to me like I may be experiencing a lack of testosterone, but when it was tested before it was in normal range (it was 0.6, range from 0.2 - 1.7) but that was in December so maybe that would be different now.

Would it not hurt to try some kind of treatment for thyroid and if that has no effect then at least you've ruled it out?? Surely the GP would be willing to give that a go after all these tests etc.

Do you have hypermobility as well?

Reading this with tears in my eyes, in a daft way I’m so relieved it’s not just me.

I really feel those who have said about wanting someone who looks at the whole picture. A couple of times I’ve thought I’ve found a GP who was listening but after the standard tests come back normal they seem to lose interest. I suspect there’s a note on my file about health anxiety now.

I believe there’s something chronic rather that critical wrong with my body, I’m not anxious about it just exhausted. Like someone else said there is the worry now I’m older that my symptoms would mask ovarian or bowel cancer.

I have a few more avenues to pursue but I’m so damn tired and can’t clear the brain fog enough to push for them. I need to lose a stone in weight which is a blocker to being taken seriously (everything predates the weight gain) but exercising when you can barely look after your kids is a dream atm.

Even the GP admits my diet is good, I eat very healthily, have no choice due to the ever increasing range of intolerances and reactions to foods. Oh but still wouldn’t refer me to anyone who can help me figure out what is going on. It’s just IBS apparently and I have to avoid triggers and stop being so stressed

Cooking and baking used to be my passion, DH pointed out some of the things I don’t make anymore that were favourites (don’t make them as I will be in agony afterwards) and I started crying as I miss the joy I used to have I creating meals.

The worst thing is seeing the similarities in my daughter and not knowing how to help her as I’m just seen as an over anxious mum, even DH implies I’m projecting. But I have a ridiculously good memory of my childhood and she’s almost a carbon copy of me. I don’t want her to be limited like me. Right now she keeps getting things that indicate a low immune system, never puts on weight and isn’t growing much but isn’t below the point of concern, she has bowel issues and frequently tired. How is that in my head? Me being written off shouldn’t mean she suffers too.

You’d think so wouldn’t you? But no. I took my DH in with me thinking it might help and asked this very question, backed up with a load of information, the few studies I could find about the drug I was on and thyroid issues and she was extremely rude - DH said to me when we left that he was shocked and a doctor has never spoken to him like that. She said “I can’t treat you for something you don’t have”.

I’ve even considered self-treating for hypothyroidism (like I say, at the level I’m at I’d be treated in Europe, US, Australia etc) but it’s not something to mess about with.

A previous GP asked an endocrinologist if he could give me a low dose of T4 and the endocrinologist said “everyone would feel better on T4, we can’t just give it to everyone”. The cut offs for treatment in this country are absolutely designed to limit how many people they have to treat, and screw the people (mostly women) who suffer for decades until their levels go out of range enough for treatment. Worse, the British Thyroid Foundation backs this up, despite the way it’s handled effectively in many other western countries. It makes me really angry.

This is why I’ve considered going private, but no guarantees that paying someone hundreds of pounds means they’ll help you either.

I just want to feel better FFS. I’m back into angry mode now! This isn’t a life, I’m 37 now, what will I be like by 47? I have two disabled children who need me to be at my best.

If I were you OP I'd go private - just an initial consultation may cost about £300? Then if they agree with your GP you havent lost much and can tick it off the list. But they may be willing to try something your GP isnt.

I have all of those symptoms and have EDS
Symptoms:

• Fast heart rate (over 100 resting—over 120 when pregnant)
• tension headaches
• tinnitus
• IBS type symptoms but only linked to my cycle

So for a week a month I have diarrhoea, stomach aches, nausea

• peripheral neuropathy
• raynauds
• acid reflux
• POTS
• bad skin (dry), thin and brittle nails and hair
• skin that easily scars

All my tests always come back normal

I am just 31 and thankfully diagnosis was easier as my mum has EDS. Sometimes it doesn’t fit into any of the categories
I also think I don’t respond well to female hormones for whatever reason (I had a blood clot in my lung when I was on the pill which although not uncommon, why me? Blood tests ruled out every condition that would make it more likely) but EDS is a disorder of connective tissue so I suppose that can be reflected in hormonal issues

Peoples honestly, try pursuing diagnosis for your daughter - if your issues are similar it may lead to diagnosis for you too.

My son was born with a very rare endocrine disorder and is under an endocrinologist. More problems have been diagnosed since and he believes there’s something underlying. He held my hand and said “we haven’t found it yet but I’m not going to stop until we do”. I just cried, for what this means for him and for the fact I’d give anything to find a doctor who’d do that for me.

In terms of hypermobility I’d say very very slight - like I can bend my fingers so they curve, and I can bend just the tips of my fingers, my elbows and knees were slightly bendy when I was younger but now I’m much stiffer. I did look at EDS before and remember thinking it didn’t fit for some reason but I will look again.

Just had another look at EDS but I don’t think it fits - I don’t have the kind of skin, joint or vascular issues that would fit.

I keep thinking back to the changes in my BP and heart rate during that period where my symptoms improved. I have a watch that checks my BP and heart rate - my heart rate generally varies between 45 and 100 when I’m doing nothing, but for those two weeks my watch was constantly alarming when I was just sitting down - 110, 115, even 148 at one point. Now I’m in my usual state, my BP range each day is almost identical - 114/77 to 122/85, but during those two weeks it was from 100/65 to 151/95 every day. I just don’t understand what would cause this. And where I’m usually exhausted, then I was waking up at 4am and couldn’t sleep, I was constantly on the move and felt jittery, like I was on speed or something. I thought hyperthyroid, maybe hashimotos and levels swinging up and down. But now I’m not getting those peaks to check.