I need a good diagnostician - 24 months of symptoms, no answers

[Wobblyheart]

I am absolutely exhausted from the fatigue and other symptoms I've been experiencing for now 2 years.

GPs did a lot of tests, rapid diagnostic service turned down my referral. I've been told it's anxiety and being tired from having a toddler but I know something else is going on. GPs don't want to do any more tests, just saying it's either a referral to a chronic fatigue clinic or just saying that some symptoms cannot be explained.

The fatigue greatly impacts my day to day living. Everything requires an enormous amount of effort and I physically struggling to do it. It's been torture.

I don't know what to do next and just absolutely exhausted from having no answers. I want to cry but can't as was put on high dose antidepressants. I am 38 and we would like to have another child but there is no way I can start ttc nit knowing what's causing me feeling like that.

I am put of breath from a minimal activity like climbing 1 set of stairs, my muscles burn from simple handwashing, I am feeling breathless and heavy. Muscles hurt like I've been working. I constantly feel heaviness in my stomach, feel full much quicker than I used to before.

I found a diagnostician in London specialising in complex cases but wait for him is over 6 months. And I need to see someone earlier.

If you know someone you can recommend, please let me know. I will travel in the UK to see them.

I felt like this before my pernicious anaemia was diagnosed.
Hope you manage to get some answers OP xxx

Do you have any blood results with reference ranges?

My next step if you haven't already would be to do a private blood test which gives you the actual numbers, not just an NHS one or a "normal private" pharmacy one. If you google something like "sports blood tests" then you'll get some options - I've used Forth before but there are a few options available (inside tracker etc). They test for more markers, and give personalised feedback. Although marketed for athletes, they do "well-being" tests as well.

For example, my B12 and Vit D were "normal" in the general population, but for someone doing the hours of outdoor sporting activity that I was doing they were through the floor and it was no surprise once I knew the actual numbers and saw where they were on the spectrum of "normal" (basically a milli point over "normal") that I felt like crap. Similarly, a lot of my stress markers, like cortisone and prolactin were through the roof showing that the psychological stress I had been under was having a physical impact and basically my system was in constant panic mode. I was then able to act on the lifestyle and diet/supplementation recommendations, including a high dose vit D and B12 supplement, and I felt a lot better fairly quickly because of it.

They're expensive-ish but I have found them invaluable in my own recovery, and for me getting the information and being able to act on it was the priority, as going to GP and being told they are "fine" when you are struggling to function is not really helpful. What is "normal" in the general population may not be your normal. Particularly if you are breastfeeding/recently had a baby, I would do a test which also includes female hormones, and include that information in the medical background bit you have to do, as then the doctor reviewing the results will be able to tailor the advice bearing that in mind.

No answers but wanted to comment to bump your post. I hope someone on here can help. Sending you love. 💐

Where were your ferritin, vit d and b12 results and the lab ranges? Different labs have different ranges so it's important to post those too.

Was checked for it 3 times, negative 😞

Yes, plenty, will post lunchtime when toddlwr is sleeping

I also just wanted to say that successive Endocrinologists, GPs and Obstetricians missed my PA from standard blood results for years but a haematologist eventually diagnosed me at a glance at my blood tests. Might be a shorter wait to see one..... I'm not sure how one goes about getting a referral for one though, mine was via my obstetrician who called him in to review me.

I had more than these, my CK test was also normal. the abnormal ones are in bold but LD was normal last year so GP thinks it will go down again.

Imaging i had done: 2022-2023 - brain MRI, full spine MRI, gynea ultrasound, abdominal ultrasound, kidney ultrasound
Tests: gastroscopy, normal
Chest xRay (2022 & 2024) normal
2 negative FIT tests in 2024. normal calprotectin test
No anemia

2021: cortisol/ adrenal test in hospital with various drugs, all normal

Ferritin
Serum ferritin level 38 ug/L [23.0 - 300.0]
Comment Ferritin < 15 ug/L may be indicative of iron deficiency.
Levels <30 ug/L can also be associated iron deficiency but are
less specific. Ferritin is an acute phase protein. Levels may
be raised in inflammatory states, kidney or liver disease and
malignancy. In these states a level within the reference range
cannot exclude iron deficiency.

B12 & serum Folate
Serum vitamin B12 level 322 ng/L [187.0 - 883.0]
Serum folate level 6.0 ug/L [3.1 - 20.5]
B12 Comment Total B12 level > 300 ng/L: Vitamin B12
deficiency unlikely.

Serum lactate dehydrogenase level 239 u/L [125.0 - 220.0]; Above high reference limit

Thyroid function test
Serum TSH level 1.20 mu/L [0.35 - 4.94]
Serum free T4 level 10.6 pmol/L [9.0 - 19.1]

Bone profile
Serum calcium level 2.27 mmol/L
Serum adjusted calcium concentration 2.29 mmol/L [2.2 - 2.6]
Serum inorganic phosphate level 0.79 mmol/L [0.8 - 1.5]; Below low reference limit
Serum alkaline phosphatase level 90 u/L [30.0 - 130.0]
Serum albumin level 40 g/L [35.0 - 50.0]

Urea and electrolytes
Serum sodium level 139 mmol/L [133.0 - 146.0]
Serum potassium level 3.8 mmol/L [3.5 - 5.3]
Serum urea level 3.8 mmol/L [2.5 - 7.8]
Serum creatinine level 65 umol/L [45.0 - 84.0]
eGFR using creatinine (CKD-EPI) per 1.73 square metres > 90 mL/min/1.73m^2

Tumour Marker
Serum CA 125 (cancer antigen 125) level 20.3 ku/L [0.0 - 35.0]

Clotting screening test
One stage prothrombin time 11.0 s [9.8 - 13.1]
Partial thromboplastin time activated 29.7 s [24.1 - 38.0]
International normalised ratio 0.96; Please note change of reference range as of 11/04/2017

Serum tissue transglutaminase level 0.3 U/ml [0.0 - 10.0]; TTG Ranges :
Negative < 7 U/ml
Equivocal 7 - 10 U/ml
Positive > 10 U/ml
TTGC
Providing the patient was on a normal (gluten containing) diet, this
anti-tTG result makes coeliac disease unlikely but does not completely
exclude the diagnosis. In known coeliacs a low TTG indicates good
compliance with a gluten free diet.

Autoimmunity profile
Mitochondrial antibody screening test NEGATIVE
Anti-smooth muscle autoantibody level NEGATIVE
Anti-liver-kidney microsomal antibody level NEGATIVE
Parietal cell autoantibody level POSITIVE (SPECIMEN SET FOR
INTRINSIC FACTOR ANTIBODIES)
Reticulin R1 autoantibody titre NEGATIVE

Intrinsic Factor Antibody
Intrinsic Factor Antibody 3 AU [0.0 - 25.0]
Intrinsic factor antibody level Negative
Please note change of UoM and reference range as of 22/04/2015

Full blood count
Total white blood count 7.1 109/L [4.0 - 10.0]
Red blood cell count 4.41 1012/L [3.8 - 4.8]
Haemoglobin concentration 132 g/L [120.0 - 150.0]
Haematocrit 0.388 [0.36 - 0.46]
Mean cell volume 88 fL [83.0 - 101.0]
Mean cell haemoglobin level 30.0 pg [27.0 - 32.0]
Platelet count - observation 239 109/L [150.0 - 410.0]
Neutrophil count 4.22 109/L [2.0 - 7.0]
Lymphocyte count 2.09 109/L [1.0 - 3.0]
Monocyte count - observation 0.63 109/L [0.2 - 1.0]
Eosinophil count - observation 0.12 109/L [0.02 - 0.5]
Basophil count 0.04 109/L [0.0 - 0.1]

Erythrocyte sedimentation rate 6 mm/h [0.0 - 30.0];

Liver function tests
Serum bilirubin level 7 umol/L [< 21.0]
Serum total protein level 71 g/L [60.0 - 80.0]
Serum albumin level 40 g/L [35.0 - 50.0]
Serum globulin level 31 g/L [21.0 - 35.0]
Serum alkaline phosphatase level 90 u/L [30.0 - 130.0]
Serum alanine aminotransferase level 11 u/L [< 34.0]

GGT (Gamma Glutamyl Transferase)
Serum gamma-glutamyl transferase level 19 u/L [< 38.0]

Serum C reactive protein level < 1 mg/L [0.0 - 5.0]

PRIVATE TESTS:
Diabetes HbA1c 33 mmol/mol Non-diabetic 20 - < 42 Prediabetes 42 - < 48 Diabetes >= 48 Good control 48 - 59 (Range: 20 - 42)

Iron Status Iron 20.2 umol/L (Range: 5.8 - 34.5)
TIBC 66 umol/L (Range: 45 - 81)
Transferrin Saturation 30.6 % (Range: 20 - 50)
Ferritin 57.60 ug/L
Ferritin is the most useful indicator of iron deficiency, but also an acute phase reactant and may be elevated in malignancy, chronic inflammation, liver damage and iron overload (Range: 13 - 150)

Vitamins Folate - Serum 4.62 ug/L
(Range: 3.89 - 26.8)
Vitamin B12 - Active 62 pmol/L (Range: 37.5 - 150)
Vitamin D 56 nmol/L Optimal 75-200 Adequate 50-<75 Insufficient 25 -<50 Deficient <25 (Range: 50 - 175)

Thyroid Hormones
TSH 2.07 mIU/L (Range: 0.27 - 4.2)
Free T3 5.2 pmol/L (Range: 3.1 - 6.8)
Free Thyroxine 15.2 pmol/l (Range: 12 - 22)

Hormones
FSH 8.1 IU/L Ref Range:( Follicular 3.5 - 12.5) Ref Range:( Mid-cycle 4.7 - 21.5) Ref Range:( Luteal 1.7 - 7.7) Ref Range:( Post-meno 25.8 - 134.8) (Range: 3.5 - 12.5)

LH 7.7 IU/L Ref Range:( Follicular 2.4 - 12.6) Ref Range:( Mid-cycle 14.0 - 95.6) Ref Range:( Luteal 1.0 - 11.4) Ref range:( Post-meno 7.7 - 58.5) (Range: 2.4 - 12.6)

Oestradiol 144 pmol/L
Ref Range:( Follicular 98 - 571 ) Ref Range:( Mid-cycle 177 - 1153) Ref Range:( Luteal 122 - 1094) Ref Range:( Post-meno < 183 ) (Range: 98 - 571)

Testosterone X 2.1 nmol/L Reference Ranges apply to adults (Range: 0 - 1.8) Free Testosterone - Calc. X 0.037 nmol/L (Range: 0 - 0.03)
Testosterone : Cortisol 0.004 Ratio

Prolactin 192 mIU/L (Range: 102 - 496)

Adrenal Hormones
DHEA Sulphate 5.1 umol/L (Range: 0.26 - 11)

Cortisol X 544 nmol/l Reference range 6-10am: 133 to 537 nmol/L Midnight: <150 nmol/L (Range: 133 - 537)

What's a PA?

I had months of non-specific symptoms before my pulmonary embolism was diagnosed. (Though I did end up coughing up blood which was a bit of a clue in the end)

D-dimer was really high, everything else was pretty normal.

Assuming it's pernicious anaemia as she mentions in her post.

Have you thought of fibromyalgia? I have read this causes extreme tiredness amongst other things.

You sound like me a year ago.

I had all of the symptoms of hypothyroidism and Hashimoto's but my blood tests were "perfect" according to the GP.

Went to see a naturopathic doctor who diagnosed me as severely hypothyroid based on my symptoms. She told me that the clinical ranges are far too inaccurate for women that she's has patients unable to function with a TSH in the normal range. Don't rely on your blood results only.

Apologies @Wobblyheart I didn't mean to suggest you had pernicious anaemia, just that a haematologist was able to look at my blood results and make a diagnosis when other specialists over the course of months could not. He was then able to order some further tests to confirm. If you face a long wait I wondered if seeing a haematologist might be quicker. I don't know if that would be appropriate in your case however. I do hope you get to the bottom of it soon xx

Suggest lowering your dose of antidepressants or giving up altogether?

I feel the same without them but more panicky.

I have very similar symptoms, extreme fatigue, I was referred to a haematologist back in January everything came back within the “normal range”. I’m not sure I can justify going private and spending thousands chasing whatever this is. And even if/when go back to the Gp I’m not sure where to ask to be referred to.

You sound like I was around the same age. Luckily my doctor refused to give up. Sue and I looked at all sorts together, then I read about B12 deficiency. We checked back and my blood tests were low but not crazily so - however my doctor was happy to trial it.

I noticed a small difference almost straight away. So I thought some B12 injections from a pharmacy in Germany (you can buy over the counter there) and trialled every other day injections for 3 weeks. When I went back to the doctor she was amazed at the difference in me and immediately agreed to prescribe it on an every other day basis for me to continue to self inject at home.

A month after that, I had dropped down from 30mg citalopram for depression daily to 10mg every other day. Was off it completely within 3 months. I had been on the 30mg dose for 5 years.

I stopped sleeping up to 19 hours a day and started to actually have energy again. I stopped falling asleep at my desk at work. I began to actually live.

I think for me, it was a combination of my vitamin D levels, my folate and my ferritin levels being through the floor as well. I think my B12 level was an artificial high because I'd been desperately trying all sorts of supplements, I didn't know it affected blood tests back then.

Unfortunately finding a decent doctor who understands B12 deficiency and is prepared to prescribe the injections (to self inject every other day is cheaper to the NHS than for you to have 1 injection with a nurse every 2-3 months) on a regular enough basis is ridiculously hard.

Looking through your test results, your folate is below optimal which could be causing a false high on your B12 test. It should be in the upper quartile of the lab range.

Did you take any supplements containing B12 in the 4-6 months prior to the test? If six this will be a false high. You need to be clear of any added b12 for at least that long.

Vitamin D is nowhere near optimal, same with your ferritin levels.

I imagine it will be like me - a combination of all of those will be making you feel terrible.

I'm on 10,000iu vitamin D3 in a soft gel capsule (olive oil carrier) daily, with k2 as a cofactor.

I was on ferrous sulphate but I stopped taking that after a private test showed my ferritin level has gone from 10 to 370.

I take 5mg folic acid daily to support my B12 injections.

B12 I'm now on monthly after my doctor did and a review that took 18 months determined the practice could save just over £20 a year by reducing the frequency of B12 injections.... (pretty sure it cost them a lot more than that to do the review). I won't hesitate to buy it abroad if I need to go back to every other day.

Also, the intrinsic factor test is extremely unreliable, and you get a false negative in something like 40% of cases! Might have been higher than that! If you get a positive, then it's correct pretty much 100% of the time. So negative results don't necessarily mean you don't have it - it just makes it harder to get the injections prescribed.

My auntie in law had this and had celiac

What did the GP say about the positive parietal cell antibodies? I'm not a doctor, but this jumps out to me as perhaps the most unusual/ abnormal result. Do you have stomach problems? Can also be linked to PA.

I'm interested in this how can you be diagnosed as severely hypothyroid just based on symptoms? I have it so I know about it, and I am aware the NHS guidelines can be restrictive around diagnosis, but surely if you had severe hypothyroidism your levels would show that on the blood tests?

@Wobblyheart I am a private and NHS GP, happy to give you some suggestions if you message me.

Thanks so much for your kind offer, I have sent you a DM.