Looking for ideas to what is wrong with me!, (long read)

[HyacinthBouquetNo1]

Could anyone please look over my story and let me know of any ideas that they might have on what is wrong with me? I am at my wits end and just want my life back! Sorry, it may be long, I will try to be as concise as possible, if any more info is needed, just let me know. Thanks to anyone who responds, I am grateful for any ideas!

Basic info: 45 year old woman, about a stone overweight, non-smoker, alcohol only at weekends. Excellent blood pressure, no significant family history, (only there is coeliac in one family member and cancer in another) 3 grown up children, had hysterectomy a few years ago, on oestrogen only HRT patch. Cholesterol is slightly high.

Problems started when I was about 36. Extreme tiredness and dizziness and just feeling weak and awful. Was found to be vitamin B12 deficient, started on injections in 2007, still on them now but no improvement noticed. All other blood tests normal.

Have had diarrhoea all my life, was told it was IBS. Had tests in 2011, normal apart from SehCat test which revealed bile salt malabsorption syndrome. Coeliac blood test negative. Around this time also noticed feeling very nauseous after dairy products, I take Lactase tabs and they help so I presume I am lactose intolerant too. For the last couple of years, I have been suffering from terrible dyspepsia and bloating and pain in my upper abdo/chest area,. I also occasionally wake in the middle of the night feeling extremely nauseous with profuse sweating and then will sometimes vomit but most commonly have violent diarrhoea and then have the chills and shivers for the rest of the night and will feel very weak the next day. Had a gastroscopy recently, looked normal apart from duodenum looked very smooth instead of being all crinkly. biopsy result awaited.

Also had some chest pains a couple of years ago and have sinus tachycardia and coronary artery spasm, on medication.

Now to the MAJOR problems!!, for the last 3 years, I have been so dizzy and fatigued. I also developed some visual disturbances, that I still have. I have had tingling in my face that lasted for a few months. Areas of flesh that feel that they are “creeping and crawling”. Tingling, burning tongue. I have also had an episode of L’hermittes sensation. I was found to be vitamin D deficient and am on a maintenance dose of this forever. I saw a rheumatologist who did a load of blood tests and they were all normal so he diagnosed fibromyalgia, even though I don’t really have painful muscles, just aching, weak legs. I gave up work at this point, as I felt so ill and it is a struggle to even get through the day. Also I have noticed hair loss for the last few years. I look terrible, very pale (everyone comments on it!) I look so tired and have large dark circles under my eyes. I get fatigued very easily and even walking around the block to try and get a bit of exercise tires me out and leaves me feeling ill. As a result, I am very unfit.

Over the last few months, I have noticed double vision on looking left and a sunburnt patch on my thigh which felt slightly numb. GP thought we needed to rule out MS so sent me to a neurologist. Brain scan has showed numerous lesions throughout the brain but radiologist has just written in the report: could be small vessel disease but not typical, not entirely typical for demyelination

Anyway, I have just had a lumbar puncture and visual evoked potentials done and am now just waiting for results and to see the neurologist. And waiting for the gastroscopy biopsy results.

So ladies, (and gents) what would be your first thoughts??!!: My ideas are:

Coeliac – I read it can cause brain lesions but can these also cause MS type symptoms? Bearing in mind my blood coeliac test was negative a few years ago

Cerebral small vessel disease- I would have not expected to see this on brain MRI in someone in late 30s/early 40s and wouldn’t it cause more stroke-like symptoms, and not MS symptoms???

MS- I am thinking this is the most likely diagnosis but then again, what do I know? I am so confused and trying hard not to consult Dr Google

So, I am grateful to whoever has managed to read to the end of this and would love to know other people ideas.

Tests I have had:
All bloods, including thyroid, parathyroid, ANA, etc NORMAL- always normal
Colonoscopy NORMAL
CT enterography NORMAL
Echocardiogram NORMAL
Lumbar puncture & VEPs –awaiting results
Gastroscopy, biopsy result awaited

Thanks for reading so far
x

I'm so sorry for what you're going through. Have you ruled out Ehlers Danlos? It can be very severe.

Coeliac disease can cause MS like symptoms. Did you only have the blood test for it or did you also have a biopsy? Blood tests for Coeliac are not always accurate and you should have a biopsy as well? I think it sounds like a real possibility. I'm sorry you have been so unwell and have had such worry.

Gosh you have had a rough time. I would go with the MS diagnosis only because that is what I have and the fatigue, numbness, dizziness, vit D, weakness, especially the L’hermittes and tingling were all present for me. I had other stuff, MS hug, optic neuritis and vestibular problems, but it's not called the snowflake disease for nothing, no two people have the same symptoms.

I was diagnosed after a very impressive MRI scan (so my Neuro told me) no LP needed as it was a very positive result. I found that being diagnosed was half the battle, I couldn't have had better care on the NHS, I had steroids, disease modifying drugs and other drugs that dealt with the symptoms. I am feeling much better than I did before diagnosis (I was 45).

Whatever your problem is once it is confirmed and you're assigned a specialist hopefully you'll start moving in the right direction. I think the not knowing is far far worse. I avoid Google for a long time but once I knew what I had I did an awful lot of research, knowledge for me was power but it's not for everyone.. I am rambling, sorry :)

I think what I am saying is if it is MS it's not the scary disease it used to be, there are worse things. I hope you get sorted soon and don't be afraid to push for answers.

Ehlers Danlos Syndrome causing Postural Orthostatic Tachycardia Syndrome

Another suggestion Postural Orthastic Tachycardia as a symptom of Ehlers Danlos Syndrome, with Dysautonomia - have a look at the "Beighton Score" chart to see if you have the hypermobile type

That said, I'm recently reading a lot on Pernicious Aneamia, as your B12 has already shown as problematic, I would suggest looking into that more first - all of your symptoms fit with PA & it's apparently linked to EDS - maybe you need more B12??

MS first thought. At any rate, neurology needs to follow this up. Who actually read the scan? Neurology scans should be read by the neurologist, not only the radiologist, but especially the neurologist. Normally a team of them look at it together. Please push for this.

gosh poor you. No idea and I don't have any medical knowledge but my mum has an auto-immune disease with some of the symptoms you mention - stomach disturbances and visual disturbance esp double vision. She has a form of vasculitis - pretty rare and the drs often tell her that it may not the specific disease they had in mind (which is called churg strauss syndrome) but one of the many other variants. They can't be more specific than to say it's something like churg strauss.

Just spotted this & thought of your post...

Sol had multiple coeliac tests before a biopsy revealed she was in fact a coeliac. It turned out she had naturally low levels of the immune factor they test for so the rest was flawed. However you mentioned the biopsy, did the biopsy definitely rule out coeliac.

Thanks to everyone for taking the time to reply. Lots to think about there. I am feeling a bit sorry for myself this morning, been a few tears! I am still tender from the lumbar puncture and having to catch up on housework! O well, Life goes on. I think it is the not knowing that is the worst, I feel my life is on hold. I had to give up a good job, I will probably never work again, who in their right mind would employ me? Some days, I cannot even walk in a straight line! We are skint, been turned down by ESA, I asked for a Mandatory Reconsideration but they still say that I am fit for work, so I have given up on that. I need to get a bit better and try and find a part time job.

I am supposed to be getting the results of the coeliac biopsy on Tuesday but am not sure if I might need to rearrange the appointment. I really want to go to find out once and for all, but the clinic is an hours drive away and I will have to drive myself, not sure if my back is up to it, I will see how I feel on Monday.

I have decided that I am going to try not to Google and just wait to see the Neurologist once all test results are in and then hopefully he might have some idea of what is going on.

Thanks everyone, I will update as and when I find things out
x

Coeliac IS a flattening of the duodenum. In runs in my family and many who had it were as ill as you. It's presents as dairy intolerance because the flattening of the duodenum cuts off the bit of the intestine that produces the lactase enzyme that breaks down lactose. Please give up gluten!

If you have one auto immune disease I think you are more likely to develop others.

I was wondering about an under active thyroid - this often has an autoimmune cause. Unfortunately the TSH blood test which is routinely used to screen for hypothyroidism is not that reliable. It would be worth getting TSH, T4, T3 and thyroid antibodies tested. I am hypothyroid and suffered lots of the symptoms you describe. In fact the reason I went to the doctor was because I was worried I might have MS. My main symptoms before diagnosis were dizziness/vertigo, feeling faint, tingling hands and feet, headaches and a weird feeling that I was having cold water poured over the back of my head. Weight gain, fatigue and aching limbs are also frequent symptoms.

Hope you get to the bottom of things soon. X

I see you have been tested for thyroid (probably just tsh though). Do you have your actual thyroid test results to hand together with the ranges? If so please could you post them on here? Thanks.

Hi, re: thyroid, the only result I have is from August 2013 and its TSH 0.89 mU/L (0.30-6.00)

Well on the face of it that looks ok but it would be very useful to get a full up to date thyroid profile with Tsh, T4, T3 and thyroid antibodies TPO and TGab I think.

How is your mood? The neurological symptoms could suggest MS but if the most recent tests come back normal then I would suggest a lot of your symptoms could be explained by anxiety.

You also need to get the result of your duodenal biopsy to confirm if you have coeliac disease but this diagnosis would not explain all of your symptoms.

Mood-wise, I would be great if I felt normal and could function as I used to do. I am getting very anxious, but this is more because I feel so ill and know there is something wrong and it is the not knowing what is really getting to me. plus the fact I had to leave a job that I enjoyed but was just not physically able to do anymore has saddened me

TSH looks good, but if it accompanied by low in range FT4 and FT3 you could have secondary hypothyroidism caused by a pituitary issue. This is not found if only TSH is tested.

This would explain quite a few of your symptoms and signs.

May I suggest as you're receiving outpatient treatment you make contact with the hospital's social work department on Monday as they should be able to help with pursuing your ESA claim or, at the very least, refer you to an agency who will be able to advocate on your behalf and lodge any necessary appeals etc.

Many new applicants are being told they're not eligible and it's become necessary to fight for what is, essentially, your right to ESA. As the bean counters well know and rely on to save miniscule sums, it's not easy to stride onto the bureaucractic battlefield when suffering from chronic fatigue and the sooner you get an agency to mount a challenge on your behalf the better.

Hi, hyacinth

What is your maintenance dose of vit d. Have you had your blood level checked, what was it, what time of year was it. ? I ask because vit d is an immune system modulator, many of your symptoms appear to be auto immune related. If you have issues absorbing vit d or if your body is not getting enough then, that could possibly be a cause of some of your problems.

BTBH

Hi, maintenance dose of Vit D is D3 10,000 units per week. When I was originally tested it was October-time and my level was 18, I was re-tested the following January and it had come up to 41. I don't know what it is now, but presume it has risen to normal levels. This was about 18 months ago.

Ok,

In that october ( 2014 ? ) your vit d level would have been at its maximum , after a summer of sun, at a level of 18 then , that implies you would have been incredibly low in the past, for long periods of the year.

Is that maintenance dose once a week, ?

Am I right in thinking that your were on a single dose of 10,000 per week for 3 months ( oct - jan ) and your level went up from 18 to 41 in three months. ? And you are now continuing to take 10, 000 once a week in a single dose. ?

BTBH

I think it was October 2013. I forgot, I was given a course of loading doses from GP to start it off and have been on the 10,000 units per week ever since.

ok,

From the vit d point of view, your levels were/ are very low, and that level of 41 after loading doses, which I presume was greater than your maintenance dose, is still a low level, then , I presume you went on to a lower maintenance dose than your loading dose.

To raise your level by just 23 points , with 3 months of a loading dose implies that you may have absorption problems. AND , that your current maintenance dose will be insufficient to keep your level adequate.

   The aim of my enquiry is to figure out what your level is now, and has been over a long period.   Ideally you should have it checked again.    Also a weekly dose is not a good way to go,  you should have a daily dose. 

Please have a really good read here,

www.mumsnet.com/Talk/general_health/2421492-Vitimin-D-can-it-have-this-effect?noti=1#56400718

Low vitamin D affects many body systems.

BTBH