Should I give up pursuing a diagnosis?

[OliveRanch]

I’m 32 and have been struggling with fatigue and a number of other symptoms for the past 18 months. After several years of pain I was diagnosed with endometriosis via a laparoscopy at the beginning of the year. I was hopeful that my other symptoms might lift once I recovered from the op but unfortunately things only seem to be getting worse. NB I have never had Covid.

Recently I have started to experience joint pain, throbbing and stiffness in my hands, feet and hips. Sometimes I feel fluey and have generalised muscle aches, so check my temp thinking I have Covid and find I have a fever, but Covid tests have all been negative. I also suffer from hot flushes (negative for menopause), transient night sweats, allergic rhinitis, patches of dry skin and dry eyes. I suffer from an unusual and chronic skin rash called erythema annulare centrifugum which is associated with autoimmune disease and other underlying conditions.

I’ve seen my GP about this a few times but haven’t really got anywhere. My FBC results are OK, no deficiencies. MHC usually elevated for some reason but the dr said this isn’t anything to worry about. Thyroid results fine. POTS test negative. ANA negative (which seems to rule out lupus), intrinsic factor negative (rules out pernicious anaemia). As far as I’m aware I haven’t had rheumatoid factor checked, not sure if anything else would be relevant.

Ultimately they’ve just put it down to a combination of my history of trauma and endometriosis, but I’m not convinced. I feel so physically awful and don’t have the energy to do anything, even the things I love to do. My dad had two autoimmune conditions and I wonder if I too might be developing one, but I’m afraid to go back to the GP in case they write me off with health anxiety.

I guess my question is, how long is reasonable to keep pursuing a diagnosis? I don’t want to waste any more of the GP’s time but equally the thought of continuing to live like this with no explanation makes me feel so sad. I am currently studying in a medical field but wondering how I’m ever going to keep up with the pace once I qualify.

Unfortunately, diagnosis and treatment of B12 deficiency/ Pernicious Anaemia is ridiculously bad and most doctors know very little about it.

For a start, unless you are vegan and it's a dietary deficiency, then tablets are useless and will only falsely raise your B12 blood result. For dairy/meat eaters, a B12 deficiency means an absorption issue somewhere along the line, whether it is caused by Pernicious Anaemia, a genetic mutation, medications, Coeliac disease etc. All absorption deficiencies need B12 injections but for some reason (presumably financial) GPs can be very relunctant to prescribe them

Things that are worth pointing out to the GP....
-You have an elevated MCH which is usually caused by low B12 or low Folate
-You have been deficient in B12 before, and should have been given B12 injections then
-You were on B12 supplementation when you had your most recent blood result, therefore it is most likely falsely in range
-Once on treatment for B12 deficiency, blood shouldn't be tested (falsely high results) and treatment should be based on symptoms
-If left untreated, B12 deficiency causes severe neurological damage and can even result in death, therefore it is important to treat asap
-B12 is non toxic and it is safe to trial injections, even in someone who is not deficient

B12, Folate, and Iron all work together so you'll need 5mg Folic Acid prescribed alongside injections as your folate level is in range but not high enough to support the injections working, and your Ferritin (Iron stores) will need checked (this is usually included on an iron panel but I can't see it in your results)

The NHS site for B12/Folate deficiency has greatly improved over the last few years and is worth printing bits out to show your GP if possible. It now includes some of the points I've mentioned above which is a big step forward
www.nhs.uk/conditions/vitamin-b12-or-folate-deficiency-anaemia/diagnosis/

And it is also worth looking at the PA Society page I linked above, and also this site is fantastic
www.b12deficiency.info/author/tracey/

Unfortunately this may be something you have to learn about yourself and fight for

Apologies if I am coming across very full-on, I'm Autistic and B12 deficiency is kind of a special interest of mine due to me becoming so ill with it years ago and having to fight for diagnosis/correct treatment myself

Just to add... B12 deficiency may not be the sole cause of all your symptoms, there may be something else going on too but if you can get the B12/folate treated correctly, then you'll get a better idea of what you're up against

Good luck with the GP, let me know how you get on

Just got back from seeing the GP. Felt a bit dismissed but she’s arranging for me to have blood taken to check rheumatoid factor, ana, inflammatory markers and methylmalonic acid test (for b12). She said she’ll refer me to a rheumatologist but if the tests come back normal ‘they won’t be that interested’

She looked through some of the tests I’ve had and said my MCV is consistently too high, although not by a lot. She asked me three times how much I drink… it was as if she didn’t believe my answer of ‘hardly anything’. I looked up MCV when I got home and apparently it’s linked to b12 or folate deficiency.

I asked if it would be worth trying b12 injections to see if I felt better but she said no, to just carry on with supplements.

I tried to explain the impact it’s having on my life and work/studies but she didn’t seem very interested. I’ve come away feeling pretty hopeless to be honest.

@kingsleysbootlicker sorry, I missed your post while I was typing mine. That’s really helpful, thank you. Both my MCV and MCH have been consistently high so I’m starting to wonder if b12/folate may well be the cause or at least a factor in all this.

I planned to ask for my ferritin to be tested but forgot.

She has arranged for a methylmalonic acid test but I’m not sure how useful it will be, I don’t think it measures folate either. I asked if the fact I’m taking B vitamin sprays will obscure the results but she just said she didn’t know, that it should do.

I don’t really know how to go about pushing this further? I’ve already asked outright for b12 injections and she said no. She said b12 deficiency can be corrected by sprays.

She said she didn’t know, that it shouldn’t do* arghh

I know youve mentioned Lupus, has anyone suggested Scleroderma to you? Its very similar to lupus and you have a lot of the markers. As its a systemic disease you really need a holistic approach as the symptoms are so varied. When I was first diagnosed I thought I was going through early menopause too which is why your op rang bells, you had pretty much identical symptoms to me when i first was diagnosed. You would normally need a positive ANA test for a concrete diagnosis, but worth reading up on. SRUK is the official website

Unfortunately the MMA test will be skewed just like the serum blood test. You would need to be off all supplements for at least 3 months first, and it's really not worth the risk at this point as you need treatment asap

When you get a chance, have a read through the NHS site I linked, as it will be hard for an NHS GP to ignore the info given on there without being negligent. What I've seen that has worked for other people in your position, is to put your request for injections in writing and back it up with quotes from the NHS site. And point out that if injections are refused, you will hold them accountable for any further damage caused by the deficiency

As a last resort, it is possible to import your own B12 vials from mainland European (legitimate) pharmacies, as they are available to buy over the counter in many countries. It is completely legal to import them into the UK as long as they are solely for for personal use. Obviously it would be better to have the injections prescribed by your GP and carried out at the surgery, but importing your own would still be preferable to getting very ill without them

Thank you, I will have a look at the website. Were you having hot flushes too? I had an ANA test in April that was negative but the GP has arranged for me to have another one.

Thanks so much for taking the time to explain everything @kingsleysbootlicker. I will put the request in writing, referring to the NHS website. It’s so frustrating they’re dismissing it, especially considering my MCH/MCV and the fact supplementation essentially renders the b12 results meaningless.

I will also consider the last resort as I’m so desperate to feel better.

@OliveRanch It's no problem at all, give me a shout if you need any further help

Just another wee thing to add... you mention endometriosis and hot flushes, there can be a relationship between both and Vitamin D. It's worth getting it tested rather than just supplementing as it's possible to take too much, I think Superdrug test it for under £50 if you can afford it and would rather avoid asking your GP. Sometimes if you have problems absorbing one vitamin, it can affect others too

I know 3 people , all have different doctors and all were having regular B12 injections.

and strangely enough, they have all been told they don’t need them anymore as their levels are high, despite them all feeling like absolute shit.

something isn’t right. I would pursue it.

That’s interesting. And frightening. From a brief google, for personal importation at least, it looks like Brexit and Covid were/still are causing issues with supplies. I wonder if there is a similar issue for the NHS, and if prices have increased etc.

Just a thought, as your gp asked repeatedly about alcohol. In my experience medics are much more willing to look into an issue if your lifestyle is already optimal. They tend to believe (mostly from experience) that a lot of people are have poor lifestyles and medicine can’t change that. That’s why social prescribing is such a big thing now.
so, eating a very wide range of whole foods, healthy fats, minimal sugar/processed foods/drinks. Drink plenty of water. Get 7-8 hours sleep every night. Exercise as much as you can manage (gentle chair yoga or just breathing exercises on bad days) get out into the fresh air and daylight as much as possible (if you can’t manage a walk then sit in the garden).
when you tell a dr you are really proactively and positively managing your health and still you’ve got these symptoms, I think you’ll find them much more likely to act.

From my experience, it tends to be the cost of the nurse appointments for the injections that make them hesitate, the actual B12/syringes/needles aren't expensive. Covid meant they didn't want people coming to the surgeries, so prescribed tablets instead, even though they knew patients would go downhill again. I was originally prescribed a B12 injection every other day long term, my GP tried to stop them because a nurse left the practice and they were short of appointments, and I was taking up 3 appointments a week. Once I said I was happy to self-inject at home, they were happy to keep prescribing... even though I had previously asked to do so and was told absolutely not and that it was dangerous 🙄

The PA Society are working hard at the minute on new NICE guidelines for GPs, because diagnosis/treatment has become so dire and seemed to be going backwards rather than forwards, so hopefully things will improve soonish

@OliveRanch yes when i went the doctor symptoms were-

Hot flushes
Swollen, painful hands and feet
Joint pain
Dry,sore skin
Exhaustion
Dry eyes and mouth
digestive issues and heartburn
Brainfog.

I was VERY lucky. I had a fantastic GP who did full range of bloods straight up. My ANA came back positive and my inflamation markers were sky high. She said straight away its Lupus or Scleroderma and put me through as urgent to rhuemy, who gave me formal Scleroderma diagnosis within a month.
I really hope you get answers soon.

I have said these sorts of things to GPs before… I was regularly active before I became ill, eat a healthy whole food diet (no processed foods), make sure I get enough sleep, healthy weight etc. The GP today didn’t ask me about lifestyle other than alcohol and mental health.

That does sound very familiar… I obviously don’t want an autoimmune disease but I’m at the point of hoping something comes back positive just so give me some hope that I can be treated and won’t always feel this way

I’m glad you were able to get diagnosed relatively quickly and I hope you’re feeling much better now.

What did your GP say about your prolactin level being almost double the top of the reference range? It's the only result that the lab have highlighted (apart from the passive aggressive comment about your cholesterol level, which is fine). You'd need an endocrinologist to figure that one out and you'd need to find one that didn't specialise in diabetes.

Definitely get serum ferritin tested, if only to rule out issues with it.

Oh, and don't give up.

I queried the prolactin as again it’s been high before (higher than that level even) but they dismissed it and said it wasn’t anything to worry about. It was tested again earlier this year and was OK so they decided no further action. .

I’m waiting for a call back from 111. This morning I started getting a burning sensation in my legs. I struggled to climb the stairs when I got home at 5:30, like my legs were going numb. Then this eve as I was putting the dishes away I started to feel peculiar and suddenly couldn’t walk properly. Both my legs and soles of feet are numb and my arms, hands and back of neck/head are tingling/electric. My legs feel simultaneously like they’re burning/icy. I have no idea what is going on.

Did you get speaking to a doctor? B12 issues can cause numbness and tingling but it's usually gradual rather than all of a sudden. Hopefully you're getting some help now

Could it be fibromyalgia

Have you had any tests for FND? Functional Neurological Disorder , I've been living with it for over 13 years now and it can cause all sorts of problems,for me I lost the use of the right side of my body, I also had the most ridiculous night sweats and all over pain, I've since been diagnosed with fibromyalgia as well which comes with its own host of problems.

If they haven't looked into FND I'd ask them to so many people that are diagnosed with it now went a year at least before they were diagnosed.

Good Luck I hope your Dr's start listening to you and that you get the help you need.

No great advice, other than I feel for you. Over the years I've had a number of inflammation disorders, and while doctors believe it to be connected, they can't figure it out.

My most recent issue was uveitis. My ophthalmologist was amazing, even better than my rheumatologist who is incredibly supportive and a fantastic dr. My ophthalmologist has told me if this happens again (or any other inflammation illness/disorder/not eyes) to contact him and he will refer me for genetic testing (based on my medical history).

Sometimes it's about finding the right dr.