Anyone recognise these symptoms?

[Verysorelegs]

My present situation is one of great despair and isolation.

I am a 50 yr old female, am currently housebound, for a year now and unable to work due to my ever mysterious symptoms, I live on my own and have had to close my business and rely on daily help from my elderly parents.

I have no support from my GP as they have made it clear that it is too complicated for them.

I have just completed a gastroscopy, CT scan, MRI scan with contrast and PET CT scan. I am awaiting an endoscopy.

One 1.4mm duodenal nodule was found but no uptake on the PET Scan so viewed as a coincidental finding.

At current I have poor mobility due to odd sporadic leg pains that follow no pattern but are bilateral in the calf muscles with muscle atrophy in both calves. My mobility is easier in the morning before breakfast and deteriorates as the day goes on.

I have Intermittent temperature change in both calves and feet leaving them freezing cold. And also occasional cramping.

I suffer constant stomach discomfort, only a handful of foods now tolerated. Meat. Celeriac. Swede. Courgette. Carrot. Now make up all three meals of the day.

I have weight loss. Insomnia. Scaling on my knuckles and knees. Elbow pain.

Depression and hair loss. Sudden body temperature changes and a very distinct pin prick type pink rash on my legs when I get out of the bath.

If new a food is added then leg pains increase, mobility decreases and other symptoms occur, urgent diarrhea, severe headaches, burnt mouth and tongue sensation with sore lips. Mouth ulcers. Severe stomach pain.

I can trace the start back to November 2014 where I experienced sudden onset diarrhea for 10-14days with ensuing weight loss.

Then again in March 2015, sudden onset diarrhea 10-14 days with weight loss and the start of the random leg pains, like a fleeting tearing sensation but with no consequence.

This continued on into 2016 with my digestion never fully recovering resulting in the start a more restricted diet as more and more foods seemed to cause a reaction. Then just walking downstairs I tore a 2.5” wound across my left gastrocnemius and Solaris muscle + fascia. Although the tear then healed and I was able to walk again, even with intense physio I was unable to rebuild the muscle and am left with atrophy

In 2017 my digestion continued to deteriorate with diarrhea 5-6 times pr day which led me to enlist the help of the first nutritionist. I was advised that a Comprehensive stool test pointed towards a klebsiella infection and course of supplements and antimicrobials were prescribed. From then on I was also unable to take any supplement due to an almost immediate adverse reaction.

Winter 2017 and a ripping sensation in both calves resulted in reduced mobility again, now being only able take very small steps instead of my usual long stride.

March 2018 after three months of intense physio legs deteriorate again. An MRI shows that the left gastrocnemius and Solaris have now separated. My legs are very cold and pale in colour.

This year sees the help of a Sports physio, Sports doctor, Vascular surgeon (normal pulses in both legs). Neurologist...normal reflex’s electrical and nerve muscle tests are also normal and a so called ‘Pain specialist’ who states is not familiar with my pain or pain pattern.

By Winter 2018 I’m managing to eat a wider variety of foods and my mobility eases to walk short distances slowly and at the start of 2019 I attend the hospital of neurology at Queens Square London for a back and full leg MRI and consultation to be told no abnormalities can be found even though my symptoms persist. So I employ another nutritionist and a variety of tests, Hair mineral analysis, SIBO and comprehensive stool test. All normal apart from high calcium markers in the hair (this does not show on a blood test). After a disastrous year of advice, more supplements and trying to add more foods my digestion gives in to three weeks of profuse watery diarrhea and pain.

Winter 2019 and although my mobility is better on a very restricted diet I am still in pain with insomnia so I take the advice of a private thyroid surgeon and employ the services of a Naturopath. After one month of vitamin suppositories my walking immediately suffers and I lose all mobility and am reduced to crawling only, leaving me in my current situation, housebound and unable to work, walk or drive.

The next test is a ‘MOAT’ test and I’m advised that I have a C Diff infection and prescribed antibiotics. Then supplements and a more variety of foods. This results in a very fast deterioration of my health including insomnia. Severe diarrhea and digestive pain, scaling on my knuckles, knees and feet. Hair loss. Headaches and Depression. At this time the skin starts peeling off the bottom of my feet and this lasts for 7-8months and I am left with a red pinprick type rash over my legs when I get out of the bath.

All blood tests come back ‘normal’, including the ANA, ENA, dsDNA, ANCA and myositis ENA as well as creatine kinase.

I am unable to take any kind of supplement or improve my health via a change of diet as this results in an almost immediate deterioration of my health.

Previously I have never suffered illness. I enjoyed a very variable whole food diet with no sugar or fast foods.

Have you any ideas to the cause of my condition? Or know of anyone who has experience treating a similar case? Obviously I am absolutely desperate for a diagnosis, treatment and recovery

[jenniferBSc]

Sounds awful, chronic illness is so hard to battle with, people with MCAD have individual symptoms maybe check out Jess-UKMasto?

[Verysorelegs in reply to jenniferBSc]

🙋‍♀️ is that a website?

[jenniferBSc in reply to Verysorelegs]

Here is the website ukmasto.org/COVID-19/?mc_ci... but Jess is also available here healthunlocked.com/

[Jess-UKMasto Partner]

Hi Verysorelegs, I'm glad to see you're asking around (I saw your post also in one of the Facebook groups) as when you have something that's unusual it's helpful to see if you can find the other people who have your set of symptoms! One thing that can be really challenging with mast cell activation syndrome (and a bit but less so with mastocytosis) is that there can be overlapping "syndromes" and it can be harder to see the patterns. For example, a quite common combination is MCAS (symptoms of mast cells being overly active)+ EDS (Ehler's Danlos Syndrome, characterised by hyper mobile joints and connective tissue issues) + POTS (postural orthostatic tachycardia syndrome, or another form of dysautonomia that affects the blood pressure). You muscle situation does not sound to me like a classic mast cell related issue, but I don't know if it comes up in EDS (for example) as that isn't our area of focus. (See the EDS charities for more on that.) While many people with mast cell disorders have GI pain and do have food limitations they can be challenging to pin down because they don't necessarily show up as food allergies (which one might expect where mast cells are involved). And lots of things can cause GI misery-- for example, people with EDS can have trouble with motility because of their condition and tend to have constipation that is really challenging, while others with mast cell diseases have diarrhoea with some frequency. An MCAS diagnosis is normally made when people meet three criteria: symptoms that are consistent with the release of too many mast cell mediators (the chemicals MCs release), a positive response to medications that address those mediators (such as antihistamines, H2 blockers, mast cell stabilisers and montelukast) and a raised mediator level caught in the blood (tryptase) or in the urine (ideally a 24 hour urine-- for metabolites of histamine or prostaglandins). While mast cells could be part of the picture for you, it would feel surprising to me if it were the only thing going on, so I encourage you to keep looking as you look into whether you meet those three criteria if find a doctor to support your trying to meet them! I'm so sorry things are so very hard for you right now.

[Verysorelegs in reply to Jess-UKMasto]

Thank you for your reply, I’m casting my net far and wide now as I have absolutely no support from my GP. I have a rheumatology appointment next week and another the week after with a functional medicinal doctor so I’m keeping proactive (I am desperate) I’m now starting not to tolerate the small group of foods that I’m eating and worried that if I can’t eat then the nhs will step in and make me even worse 😓 I’ll check out the EDS

Reading all I can get my hands on but my bet is that a virus or bug kicked mine off and I need to find the root cause to solve it.

More tests to come, thank you for taking the time to read and answer my post 🙏

[RumNRaisin]

Hi there......and I am so very sorry to read about your illness and the lack of support you are getting from your GP. I couldn't help but notice that a number of your symptoms are very similar to ones I experienced for around 13 years before I finally received a diagnosis. At one stage it was so debilitating, I also could not work. My entire body (including my eyelids) ached to the point where I couldn't move - my legs were probably the worst affected. I constantly felt cold; regularly had pins and needles (mainly in my hands); muscle cramp; large and painful mouth ulcers and cold sores; severe headaches; a strange rash on the tops of my arms and legs; scaling skin on my elbows, wrists, legs and torso - it would peel like very bad sunburn; depression; hair loss (all my body hair, including my eyebrows) and irregular sleep. I notice that you have experienced weight loss, whereas I had abnormal weight gain for the amount of food I was eating and another major symptom for me was my nails were very ridged and extremely brittle. I too had an unhelpful/disinterested GP, who would periodically send me for blood tests that always came back 'normal' or 'inconclusive' and once gave a wishy-washy diagnosis of Chronic Fatigue Syndrome, which has no specific treatment. I felt like I was losing my mind.

When I was at my lowest, I crawled round to my GP's surgery on my hands and knees with the intention of asking them to admit me to a hospital because I was so desperate. As luck would have it, my Doctor was on holiday and I saw a Locum instead who asked me if I'd ever been seen by an endocrinologist. I explained that as my blood test results were always normal, I'd never been referred to anyone.

The Locum arranged an emergency appointment with an endocrinologist at my local hospital, who diagnosed a suspected under-active thyroid and prescribed a trial of Thyroxine. When I queried why this had never revealed itself on any of the countless blood tests I'd had over many years, the endocrinologist explained that there are some instances where it only appears at tissue level so symptoms should always be taken into full consideration and never be dismissed in favour of a normal blood test result. Within the first few days of taking Thyroxine, I felt markedly better - by the end of the first week, my temperature was starting to regulate. And by the time I'd got to my first repeat prescription (a month later), my hair was starting to grow back. I've now been on the medication for the same amount of years as it took to diagnose the problem (13) and I have never looked back.

Whilst I'm not saying that your illness is thyroid-related, even though you have a number of symptoms that I can most definitely relate to and empathise with, please ask for a referral to an endocrinologist if you can. The endocrine system controls bodily functions such as sleep, movement, digestion, mood, stress, the metabolism and the affect of hormones on organs including the skin and in my experience, an endocrinologist will look at your symptoms holistically rather than trying to diagnose or treat them one at a time.

Sending you my warmest and very best wishes and I really hope things get sorted for you soon. Please keep me posted on your progress. 🙂

[Verysorelegs in reply to RumNRaisin]

Thank you so much for taking time to read and answer my post. I have an appointment in just over a week with a doctor who specialises in investigating the root cause of chronic disease so Ill let you know how I progress. I’m so glad to read that you are better! And angry at the way your go treated you, with all the accounts I’m reading now of miss treatment by gps quiet frankly they should be ashamed. Endocrinology seems to be the only department I haven’t visited, so you’ve given me another lead 🙏☺️

[RumNRaisin]

Yes, please do let me know how you get on at your appointment with the specialist - I'll be thinking of you and sending you lots of positive vibes. 🙂 And thank you for your kind words. I'm all good - now we just need to get you well again. ☺️