Am I ill, or just a middle-aged woman?

[BlackInk]

I'm not sure what I'm hoping to get out of this post, but I get the distinct impression that GPs at my surgery are fed up of me, think I'm a hypochondriac and want me to just go away.

I'm 45 with 2 primary school aged children and I work full time (DP works part time). I had a sudden menopause 2 years ago - periods just stopped with no warning.

LONG AND TEDIOUS LIST OF SYMPTOMS
Nausea
Gurgling throat
Churning stomach
Stomach aches, bloating and spasms
Acid reflux
Weight loss
Twitching
Stiff, weak, painful hands
Swollen finger and foot joints
Clumsiness
Blurred vision
Angular chelitis
Receding gums
Lower back pain
Pins and needles
Tingling head
Poor memory and concentration
Dizziness
Exhaustion
Terrible anxiety
Zero libido
Ovary area pain
Occasional bleeding after sex

TEST RESULTS
B12 deficiency
Positive ANA
Persistent low iron
Haematocrits right at bottom of range
Platelets right at bottom of range (v low in pregnancy)
Hiatus hernia
Early menopause
Historic infertility and multiple miscarriages

FAMILY HISTORY
T1 diabetes x 3 close family members
Pituitary and adrenal tumours (mother)
Marie Charcot Tooth (father)
Addison’s Disease

No cause has been found for my B12 deficiency (I tested negative for pernicious anaemia and dietary intake is good). I was given 5 B12 injections in November and GP now wants to leave me until the summer and then retest my B12.

I had an endoscopy that was reported as normal except for a hiatus hernia, which GP tells me is unlikely to cause symptoms.

No reason has been found for positive ANA.

I tried PPI medications for a while a year or so ago, but it had no effect.

I'm on HRT but don't feel any better for it.

My GP surgery have basically washed their hands of me. I was called back by a GP after querying the treatment of my B12 deficiency, and simply dismissed. He told me I could book a double appointment to discuss my issues if I wanted to. However, I've been trying to book a double appointment for a few weeks and there is literally never anything available.

Does anyone have any experience of anything similar at all - either from a medical or personal point of view? I literally don't know whether I should be ignoring all of the above and continue to drag myself along or whether I should keep on pushing to get to the bottom of it all.

Apologies to anyone who's read similar posts from me in the past!

BI

Did they test you for thyroid hormones, OP? If not, I'd ask about that pronto. Similar (but not identical) issues here turned out to be hypothyroidism. If you've not been checked, I'd ask for that to be screened for just to rule it out.

Have you been seen by a rheumatologist? Have they excluded Lupus? you can have a positive ANA and be healthy, but in view of your symptoms and history of miscarriage and fertility issues, it should be considered.

Thank you both. I haven't been seen by a rheumatologist.

I had a dsDNA binding autoantibody result of 2.9, which I think rules out Lupus?

I'm pretty sure I had the basic thyroid blood test and result was normal but I can't see the result anywhere in my record now...

Low Vitamin D and Thyroid - both can give you a lot of those symptoms IMO

That is low, but I'm not sure a low level excludes SLE totally, I read that only around half (40-60%) of those with SLE will have anti-dsDNA. NHS link

Do you have any rashes, skin issues or dry eyes?

Thanks HelenRose1111 I will try and find out what tests they've done thyroid-wise, and will mention vit D as well, although I guess I could just take a supplement for that and see if it helps.

cathyandclare Thanks for the link, that's really interesting. I do actually suffer with bleary, dry eyes, blurred vision at times. I also have generally dry, scaly and itchy skin especially on my back. I get a raised red rash under my eyes from time to time too - a bit like this but only under my eyes, more raised and both at the same time. Hmmm. I'd dismissed Lupus and am sure GP had too.

You mention a family history of Addison’s disease. Have you had your morning cortisol levels tested? (They won’t have been done routinely). I had similar symptoms to you and it took me two years of being an utter nuisance at the gps to finally get a diagnosis of Addison’s (I actually wasn’t a nuisance, that’s just how they made me feel)!

I was asking myself the same question this morning, although I actually have a diagnosis. My symptoms, blood test results and family history similar to yours. How high was your ANA? My diagnosis is UCTD (sort of latent lupus). I still ask myself, is it the UCTD or just my age (same age as you) though and the consultant is reluctant to prescribe hydroxy at the moment as fatigue apparently isn't important... Did they run any tests on your anticardiolipin/antiphospholipid? Also, I've had tests to rule out MS as some of my neurological stuff has been quite distinct and this might be something they should be doing too.

Ask for a referral to a hormone specialist. It sounds like you need hormone replacement. If you can't get the nhs referral, go private. It will be totally worth it. I had all the symptoms you are describing (except early menopause) and going on the pill took care of everything.

I don't think my dsDNA was positive from memory.

Fairylea No, they know of family history but haven't offered testing. I'm really reluctant to keep suggesting diseases I might have as it feels like it will just make me seem like even more of a hypochondriac!

t1mum3 I don't think my result shows a figure. It just says POSITIVE and >100 = significant. It was followed up with the dsDNA and ENA (negative) and then not pursued. I don't think I've had anticardiolipin/antiphospholipid tests.
I've got some fairly noticeable neurological things going on - really persistent muscle twitches, loss of dexterity in my hands, pins and needles etc. I saw a neurologist right at the start of all of this but it was very quick and basic - walking in a straight line, reflexes etc.

SofiaAmes I'm already using HRT patches. Have tried a couple of different ones but don't feel any different.

I've got another GP appointment in a couple of weeks, so am going to try to raise some of this then. I wonder whether pushing for a rheumatology / haematology referral might be my best bet?

@Blackink - an ANA of 1:80 or more is potentially suggestive of an autoimmune disease in the group that includes Lupus, Sjorgens, etc. That said, "normal" people can have up to about 1:80. Normally the results are something like 1:40, 1:80, 1:160, 1:320 etc so I'm not sure what your result was but possibly 1:160. Mine was 1:80 on initial testing but then shot up to 1:1280 (very high) so it can change. I have intermittent clinical thrombocytopenia which is part of this - I'm not sure if your platelets are low end of normal or clinically low? Anyway, it's certainly reasonable to question your GP about a referral to a rheumatologist given your blood work and symptoms. Have a look at this www.hss.edu/conditions_undifferentiated-connective-tissue-disease-overview.asp. Also have a look at Hughes/antiphospholipid syndrome which can cause neurological symptoms as well as recurrent miscarriages www.aps-support.org.uk/about-aps/what-are-the-symptoms Feel free to pm me. Obviously I'm just someone on the internet who shares some of your symptoms and lab results, but I had never heard of any of this stuff before I was diagnosed and we do have strong similarities. My B12 is also sub clinically low btw.

What treatment are you on for the persistently low iron ? Do you know what your current Haemoglobin level?
Did you feel any better after the he loading doses of B12?
Have you considered buying high dose sub lingual B12 spray ? May help until the Summer.
Have you had your Vitamin D and Thyroid Function Tests done recently?
If not, ask GP about this.
If your going to self supplement with Vitamin D you really need a very high strength one. Can't remember the iU dose sorry.
If the above are "normal" then consider asking for a Rheumatology referral.
Good luck OP
PS you can see why people with B12 deficiency end up self injecting B12 with dodgily acquired internet B12 out of desperation.

In answer to your question, the symptoms you describe are not normal middle age symptoms. I know it’s difficult but I think I would push for a referral to a specialist such as a rheumatologist. Looking at your symptoms it made me think of something along the lines of Sjogrens. I may be completely off the mark though but if I were you, I would keep pushing for further investigations. I wonder whether there is a sympathetic female GP you could see?

Perhaps you need more hormones than you can get from an HRT patch. I tried switching 2 years ago from birth control pills to HRT patch and it was awful and all my symptoms came back. I finally got a new OBGYN (in USA) and went back on the pill and all the symptoms went away again. I am 55.

@Fairylea, can I ask what led your gp to test for Addison's. What were the main symptoms you presenting with?

I am starting to question whether this might also be an explanation for symptoms I've suffered from for over 2 years now, with a number of symptoms within the list shared by BlackInk. I've had a number of tests done, but having done a lot of research now, I think Addison's is a real possibility.

How was it diagnosed and did you find out what caused it?

I kept going back and forwards to the gp with all kinds of things before being diagnosed with Addison’s. Main things were feeling my blood pressure kept dropping as if I was going to faint, chest pain, panic attack type feelings, chronic pain all over my body (muscle ache type things) etc. I didn’t even know what Addison’s was, I just knew I felt dreadful. I actually thought something was wrong with my heart and I was going to die. I went back to the gp every week for about a year and a half in tears, they thought I was crazy basically and put me on diazepam and anti depressants (which I had been on previously 10 years before when I had post natal depression but this didn’t feel like that!)

I already had thyroid problems (low thyroid) so in sheer desperation I begged my gp to refer me back to endocrinology even though I hadn’t seen them in years just to check me out and it was there they did a morning cortisol blood test and then an ACTH test (if you google it you’ll see what it is, a type of blood test) that diagnosed Addison’s. They got it straight away.

I made a formal complaint against my gp practice. To be fair it is extremely rare - 1 in 100,000 - but as it is life threatening (you can die of it - adrenal crisis if untreated- they should be more aware).

Meant to add, Addisons doesn’t always have a cause. Mine may have been losing 2.5 litres of blood during the birth of my son (sometimes extreme blood loss triggers it) or perhaps the seretide inhaler I use for my asthma (secondary adrenal insufficiency- treatment / information is the same as for Addison’s) but no one really knows.

Many of your symptoms sound like my friend who has a rare genetic condition called Ehlers Danlos Syndrome.

You could easily find out if you had this (or another genetic condition by sending off a saliva sample to one of the many companies who do it these days. Costs something like £200 I think.

Are you hyper mobile? Do you have amazingly young-looking skin?

A lot of your symptoms sound like Fibromyalgia or ME/CFS. You need to get a referral to see a rheumatologist

I get a lot of muscle twitching and weird neurological things going on, sometimes numbness, but often just tingling. GP was very uninterested, but I ended up self diagnosing through internet forums with benign fasciculation syndrome. For me I think it was brought on by stress and health anxiety (was wrongly diagnosed with something else not connected), for other people it can be a viral infection or medication. Can't neurological symptoms be caused by B12 deficiency though? People seem to commonly take 5000mcg B12 Methylcobalamin for neurological conditions - though you don't want to self medicate and mess up any medical testing, it's difficult.

These all sound like a hormonal issue. Go to a menopause specialist.

I’m 65 and I think am probably taking twice as much oestrogen as you are, in gel form. I count 11 of your listed symptoms that affected me when my oestrogen levels were low. It might be worth seeing if you can adjust your HRT.

Thanks Fairylea for sharing your experience. I'm glad you finally got a diagnosis. What treatment are you recieving? Are you feeling much better since?

My worse time is first thing when I wake up and feel I've been in a washing machine all night. I'm so wired up, feel like heart is pounding (it isn't), terrible tinnitus, muscles all tense, and just feeling extremely alert yet very lightheaded.

I have another condition that is linked to kidney problems and possibly adrenal glands. I am considering doing a cortisol test that can be done privately.

Wow, thanks for taking the time to reply everyone. I really appreciate it, but am sorry to hear so many other people are having problems with similar symptoms / difficulty finding the cause.

I've made a GP appointment with a different doctor (11th Feb) and am gong to try really hard to get some help to get to the bottom of this. It's so difficult because, as all your replies show, it could be anything from menopause to anxiety to an auto immune disease.

Thanks for the links t1mum3 - I'll have a good read.

mardm - My haemoglobin is in range at about 126 and my ferritin was around 15 last time it was checked but goes below range from time to time despite decent diet and OTC supplements when I can stomach them. My B12 is very low (122) despite 6 months of high-strength oral supplements. Vit D has never been tested and thyroid was about a year ago, so I will ask about these.

Cloudhopping - Thank you, I'll read about Sjogren's.

Fairylea and swingofthings - Sounds as though you had a nightmare leading up to being diagnosed, Fairylea. A few times I've been scared to lie down / go to sleep because I feel so awful I'm scared I won't wake up again. I also often wake up in a state of panic for no reason. GP thrust a prescription for antidepressants at me, but I didn't take them.

redyawn - Strangely, both my children have some symptoms of EDH but I am definitely not flexible or young-looking - I'm creaky and haggard!

I need to do some work, but thanks again everyone, and sorry if I've missed replying directly.

BI