No real diagnosis for over 9 years and just progressively getting worse.

[Dolphinpause]

Hi everyone, I’ve never posted on a forum before and to be honest don’t even know if I’m in the right place but I am at the point I don’t know where to turn and almost just want reassurance I’m not going crazy/alone.

Basically Im a 29 year old female and have had symptoms starting over 10 years ago however I was fighting serious mental health symptoms (now diagnosed with schizoaffective disorder) so there was a time things were confused. I have seen multiple doctors but still no real answers and would greatly appreciate any input if people have experienced similar

My first symptoms were:

persistent hair loss (not bald patches just an overall thinning which is noticeable) - told this was stress but it has never got better and is just persistent.

diagnosed with NASH at twenty - gained a lot of weight anti-psychotic medication (olanzapine, sodium valproate and more)

mildly highly CRP levels in every blood test (12-20) over multiple tests/years and ESR at 45-55

I also was check for endometriosis as always had irregular/painful periods however this was negative but had the mirena coil and now symptoms are a lot better although I find smear tests etc very very painful.

Around 6 years ago I started having severe gastro problems going at least 6-8 times a day (this is still the case) sometimes aa bad as 20 times but now take prescribed codeine for pain so more manageable and dark blood in stool. The strange thing with this was I could almost always tell it would happen as I would have an aching pain in my stomach the night before. I had multiple colonoscopies over the years - nothing has been found. I had both positive and negative FIT tests in the past. My gastro got worse when I started vomiting daily (at least 1-2 a day but can be a lot worse) for the last two years. Had two endoscopies but again, nothing found except a ‘relatively large’ hiatus hernia but was not there on the second one, I also have had pain in my right side, sometimes waking me up a night - some crystallisation found in gallbladder but no gallstones.

I have chronic fatigue, headaches/migraines 2-3 times a week. I’m so exhausted daily life is a struggle.

They have found two cysts, one was believed to be a duplication cyst and have now been told it is mesenteric cyst but thankfully benign the other near my kidney and also baggy renal pelvis which is a kidney thing- all this has been decided it is just coincidence/ found due to multiple tests MRI/CT etc and I have no kidney symptoms.

I have been diagnosed with multiple issues though seemingly unrelated including mild BAM, POTS, NASH, Hypothyroidism, SZ Alpha 1 antitrsypsin gene. I have had treatment such as Levothyroxine and my levels for thyroid and my liver are now normal but no changes in symptoms. I have very low blood pressure and low heart rate but when doing little goes incredibly up (hence the POTS diagnosis) and take medication to raise blood pressure which has helped fainting spells a bit but nothing much else

I have had numerous vitamin tests - the only one deficient was vitamin D which now take each day

I also have some random symptoms that are less day to day impactful but still ‘odd’ -

persistent tremor in left hand/left leg - been told this is not Parkinson’s and possibly an essential tremor

ripping sensation in foot but no mark/bruising - very sharp pain at the time but completely goes

Muscle pain in legs, sometimes feels like my legs has cramped up - this has varied over the years in frequency.

flushing in only my face for no reason even when body is cold

recently told I am hyper-mobile

freezing hands/feet and sometimes massive aching at night in legs where they are severely hot (like burning) but again body overall a normal temperature.

Red dots (not painful/not raised) on one foot and before under my eyes but always just goes

skin problems - a red rash on chest in sunlight but nowhere else - I have very fair skin and burn easily but this is not sunburn, it feels very different and also happens just in sunlight, not necessarily very hot. Also recently spots/acne which I’m only putting as I never had this before E.G as a teenager.

Light sensitivity which sometimes is so bad I wear sunglasses Indoors on a cloudy day.

Easy bruising for years, blistering easily, sensitive and cracked tongue can’t use any mouthwash with alcohol. Also sometimes phantom smells such as smoke.

I do not smoke/drink but I have a high BMI. I never mention to my doctor that I don’t eat enough for my weight because I’m scared to be lectured but even with the gastro problem and sometimes barely eating I very rarely lose weight - I have also been told that it could just be I’m overweight for these symptoms which is so disheartening that like I said, I’m scared to even bring it into the conversation.

These symptoms sometimes improve but never go and sometimes one symptoms will be particularly bad and then another a bit better etc however overall my health is deteriorating every month. I barely go out now and luckily work from home but I’ve had to take time off a lot. I have seen so many doctors/specialists /GPs and no real answers. It take years for anyone to even take it seriously and even though they are now agreeing I am ill and that is a huge relief I’m still just getting worse and worse

I just get vague things like Autonomic nervous system dysfunction and also that these range of symptoms are not connected but I feel that they are which I know isnt very scientific but it just seems like too much of a coincidence.

I have had ANA test which was negative and CTD blood test which was also negative, also celiac was negative. Due to this auto immune was ruled out and I’m wondering if it’s still possible with these being negative considering my symptoms.

Has anyone experienced any of this? Sorry, I know this post is incredibly long but I’m just so so tired and I don’t know what to do. Any helps is appreciated and if anyone has experienced anything like this I would really like to know, I just feel so alone in this and like I’m losing more of myself each day.

Thank you so much.

[JenniferW]

You poor thing, you have been put through the wringer.

I suggest that on the issue of the thyroid, you post on the ThyroidUK board. They will want to know your last thyroid results, including the range, also any vitamin tests you have had like vitamin D and iron. You can be within normal range for your thyroid, but actually undermedicated. Being persistently overweight despite not eating much is one of the symptoms, so it's worth asking the administrators there for advice.

[sarahalice]

Do you know about Lipedema? Worth a Google search.

[Carcrashgal]

Dolphin (if I may call you that!) please don't worry about whether we'll throw you out for being a fraud – many, many of us have been through years of no- or mis-diagnosis, so we know exactly how you feel, and how frustrating and depressing it is.

I am very glad you have found this forum, which is an absolute wealth of experience and information. I hope that you will find some help and comfort here.

In the meantime, you might find this interesting. healthunlocked.com/redirect...

Wishing you all the very best, and medics who are able to help you.

[KayHimm]

Dolphinpause -

Autonomic dysfunction is not vague. It is an often overlooked diagnosis. Are you getting treatment and advice on lifestyle modifications?

My most challenging symptoms at this point are from the autonomic dysfunction, which is possibly caused from my autoimmune disease.

The Dysautonomia Foundation is very helpful. The autonomic nerves control everything from heart rate, blood pressure, vasoconstriction, bowel function and heat regulation. A recent study showed the disability is greater than that of COPD.

Please don’t minimize your symptoms. I don’t hear lupus in your description but do your lots of effects of your Dysautonomia.

Hope you get better help with this.

Kay

[KayHimm]

Jas no one suggested your GI issues are from your Dysautonomia? I am a bit surprised no one has suggested the possibility your facial flushing and bowel issues are from your Dysautonomia.

[Cath24]

I am really sorry for everything that you are going through - you're not alone. We are not medically trained, but we do have our own experience with some of what you have mentioned, so we can suggest things we have learned along the way, or what we have found helpful.

You say that you tested negative for ANA, but please remember that there is such a thing as seronegative autoimmune e.g. UCTD, Seronegative Lupus, or Crohn’s.. looking at your symptoms with blood in your stools, you definitely want to rule out Crohn's. You also want to look at Ulcerative colitis. Get tested for pANCA antibodies if you haven't already.

The symptoms you describe like the fatigue, pains etc. are all very common in autoimmune conditions too, and some of them overlap. For example, someone with lupus might also have antiphospholipid syndrome, or Rheumatoid arthiritis and so on. You won't necessarily just have a single condition. Autoimmune conditions are still very much at the early stages of being understood, so at the moment it's just one big spectrum and trying to fit people's symptoms into the best possible category. Often times, people who do not test positive for antibodies but have other symptoms, are diagnosed with UCTD. This may or may never develop into a full blow autoimmune condition. Likewise, some people who actually do test positive for ANA, even with a very high titer, might not necessarily have a full blow autoimmune condition, and would best fit in the UCTD category. This doesn't mean that their symptoms are not real or any less serious than someone's who typically fit textbook symptoms. As an example, the malar rash (butterfly rash on face) is a hallmark for lupus, but only 50% of people with lupus will have it. It's just that it's easier to diagnose lupus if someone does have the malar rash - if that makes sense. Otherwise, it can mimick other autoimmune conditions.

Your CRP and ESR levels indicate that you do have inflammation in your body. It's important to note though that not everyone diagnosed with autoimmune will have active inflammation, and the levels will fluctuate! This is also true for ANA. If you catch a virus like covid, and get tested for ANA, you could test positive and it could be very high, and then once your infection clears it could go back to negative - this is called transient positive.

Here are some tests worth advocating for - speak to your GP. If they refuse to, then ask them for a clear reason and to put it in writing for you.

Crohn’s disease – A capsule endoscopy might help rule out Crohn’s or IBD that could have been missed in colonoscopies.

pANCA antibodies – Ulcerative colitis sounds like a strong possibility, and it’s very manageable with the right treatment.

ANCA panel – To check for vasculitis, which can cause multisystem inflammation.

Complement levels (C3 & C4) – These can indicate immune system activity and help rule out autoimmune conditions.

POTS evaluation – A tilt-table test would confirm whether autonomic dysfunction is playing a role.

Mast Cell Activation Syndrome (MCAS) – Given your flushing, GI issues, and other symptoms, it might be worth exploring.

Full ENA panel – Even with a negative ANA, some autoimmune conditions present with other antibodies (e.g., anti-dsDNA, rheumatoid factor, ANCA, etc.).

As a final note: Stress is very strongly linked to the activation of autoimmune conditions. If you were predisposed to one, and had a very stressful life, it can push your immune system over the edge. This is also very true if you already have an autoimmune condition, as stress is one of the top reasons people flare up. Severe chronic stress can also waken EBV that is present in 90% of the population (it is dormant though!) and even COVID has been proven to activate autoimmune conditions.

It's not a life sentence though. Just because these conditions all have names, it doesn't mean they will take over your life and you are doomed! It just means that you will want to make some vital adjustments to try and push it into remission - with the right care and advice, and medication if necessary. I know that it's easier said than done, but you DO have some control, and it's so important you grab that control and do everything you possibly can to try and get your immune system to start calming down. Sleep is everything. Stress management and talking about your condition to others so that they can support you. Omega 3 oils to balance out the inflammatory omega 6 that is inflammatory because it is excessive in our diet (try to eat more fish, or you can take 1 teaspoon of pure cod liver oil daily), reduce gluten and dairy for a while to see if it helps (both are shown to be big triggers in flare ups in many but not all people), Vitamin D if sunlight is not an option for you e.g. some people with lupus get flare ups in the sun (D3 + K2 and magnesium - it HAS to be this combination or it won't work - ask your doctor for advice on how to supplement safely). Advocate for yourself - you are NOT making it up. It's true, it's happening to you, but it doesn't mean it will control you. I wish you all the best, and let us know how things go - always here if you need us. x