When I first received my diagnosis of M.E. back in 1994 I really wanted some other disease – one which had a proper test, proper treatment and preferably a cure. The fact that M.E. currently has no diagnostic laboratory test means that, according to the CDC, 40% of people with a diagnosis of M.E. actually have some other medical issue. Many people, including some doctors, hone in on this fact and have a tendency to make out that M.E. doesn’t exist as a disease entity in its own right at all and that anyone with my symptoms must have some other, more easily explainable, illness. They totally forget to hone in on the fact that the research shows the majority (60%) of people who have my symptoms actually do have M.E.!
Hypermobile Ehlers-Danlos doesn’t have a laboratory or gene test either, and diagnosis is made from symptoms and clinical history (just like M.E.) yet not once has my EDS diagnosis been questioned. Funny that.
I have regular comments on my blog, from lovely well-meaning people who I know are only trying to help, suggesting I have a variety of diseases from Lyme to Coeliac, Mitochondrial disease to bromine toxicity. I already have 3 painful, exhausting, frightening illnesses and genuinely don’t want any more ;-) I’m going to address the diagnosis issue in this post so we can hopefully put the issue to rest.
This is caused by infection from a tick bite and shares many symptoms with M.E. It can be difficult to diagnose as laboratory tests are notoriously unreliable, particularly if you are unaware you’ve been bitten and don’t get tested for some years after the event.
I don’t have Lyme disease. I first became ill when I worked on a cruise ship. No animals on board and ticks don’t live in the middle of the Atlantic ocean. I was fit as a fiddle one day, and sick as a dog the next due to a tummy bug and allergic reaction to the drug they gave me to stop me vomiting. Classic post-infectious M.E. symptoms developed overnight, which is why I was lucky to be diagnosed with M.E. within 4 months of getting ill. If there is a poster child for a diagnosis of M.E., I’m it ;-)
Some people are allergic to gluten, a protein found in various grains including wheat. One of my best friends has Coeliac Disease (as well as M.E.) so I know quite a lot about the disease, how it’s diagnosed and how it’s treated.
I don’t have Coeliac Disease. My blood test was negative, and my biopsies were also negative. I’ve even had my poop tested which was also totally normal. Over the years I’ve gone on no less than 3 gluten-free diets, not one of which has helped a single one of my symptoms (in fact the last trial made me feel dreadful). My Coeliac friend has been very strictly gluten free for 8 years now (she is tested yearly) and it has made not one jot of difference to any of her M.E. symptoms – that would be because M.E. isn’t diet related.
This isn’t a true allergy to gluten involving an IgE reaction, but a chronic immune response. I don’t have gluten intolerance. I’ve had both skin prick testing and IgG testing which were negative and I’ve found no benefit from a gluten-free diet. However, that’s not to say I won’t develop a problem with gluten in the future – my immune system seems to cope with various food items for years, then suddenly decides it doesn’t like them anymore and revolts! But currently gluten is causing me no issues.
Fructose/Diary/mould and other allergies/intolerances
I’ve had skin prick allergy testing and am not truly allergic to dairy products, moulds or any of the common allergens. I’ve also had blood IgG tests for dairy, moulds and other allergens and all is fine – in fact my allergy load is so low it barely registers (which is one of the reasons I knew I had mast cell disease/histamine intolerance).
It’s true I haven’t had a fructose absorption test, but then I don’t have any symptoms after eating fruit, sugars or carbs so it’s not something I’ve ever felt the need to do. I have enough on my plate without looking for problems that aren’t there.
I’m sure if I had extensive testing I’d be mildly allergic to a few things that haven’t been picked up on (I know I have a problem with nickel for instance, so simply avoid wearing jewellery etc. with nickel in it), but nothing severe enough to explain my symptoms.
Mitochondrial Disease/MTHFR/genetic diseases in general
I’ve had my genes tested at 23andme and thankfully didn’t score at high risk for any genetic disease – not even Dupuytrens Contracture which my Mum has quite severely. Of course, that’s not to say that I won’t get Dupuytrens, or some other disease, as genes only play a part in whether or not someone will develop a disease – there are lots of other factors involved.
I’ve not delved into the MTHFR/methylation arena – it’s something I might do one rainy day when I’ve got nothing else on, but then again I might not too as I’m not sure what bearing it would have on my ME, MCAD or EDS. I have a terrible time tolerating supplements, and certainly can’t tolerate methyl-B12 which is one of the things given to people with methylation issues. My diet is already good, with loads of fresh fruit and veg and everything is organic. I already take epsom salt baths. So I’m not sure what good knowing I have the MTHFR mutation would do me. I’ve got to be honest and say that IMHO the whole MTHFR thing is just the latest craze in a long line of crazes. Now we can study the human genome we’re going to find all sorts of abnormalities. Just because you have a gene abnormality doesn’t mean to say it causes you any problems whatsoever. If a gene abnormality is backed up by blood testing (eg. regarding MTHFR if other tests show you have excess glutathione or high blood pressure, fair enough) but on its own I’m not sure a gene mutation means much. I actually think you could drive yourself nuts looking at your genes and their many anomalies, and I have enough on my plate with the three diseases I know for sure that I have without looking for any more. However I only ever say on here what I’m doing and what’s best for me.
Mitochondrial disease: lots of studies into ME have looked at mitochondria and nothing conclusive has been found. That’s not to say ME won’t turn out to be a mitochondrial disease but at the moment it’s not looking that way. MCAD has been shown to affect the mitochondria, but isn’t a mitochondrial disease per se – abnormal mitochondrial function is a symptom of MCAD, not a cause (see my Canary post for more info). Ehlers-Danlos is a genetic defect of collagen, and nothing to do with mitochondria. I had boundless energy as a child and there is no history of birth defects, poor growth, autism or any other symptoms of genetic mitochondrial disease in my family. So although my mitochondria may now be malfunctioning as far as I’m concerned it’s a side-effect of another disease process, and not the cause. In any event there is no diagnostic test for mitochondrial disease, and the treatment consists of doing everything I’m already doing: pacing activities, avoiding exposure to viral illnesses, conserving energy, ensuring adequate hydration and nutrition.
M.E. is a diagnosis of exclusion and in order to receive my diagnosis I was tested extensively. I’ve had:
- MRI scans of my brain, neck, spine and entire GI tract.
- CT scan of my spine and sinuses.
- Heart scan.
- Ovarian and uterine scan.
- EEG which measures brainwave activity.
- ECG which measures heart activity.
- Endoscopy/stomach & duodenum biopsy.
- Faecal inflammatory test.
- GI transit study using Sitz markers.
- Chest x-rays – dozens of them.
- Every blood & urine test known to man, including the 2 lyme disease tests, gluten, hormone profile, thyroid (several dozen times), vitamin and mineral profile (including B12 and iron), melatonin, serum histamine, and all the standard FBC, ESR, CRP, electrolytes, clotting factors, cholesterol, lipids, glucose (including a fasting glucose/provocation) etc.
- H-pylori biopsy.
- Mycoplasma and Chlamydia pneumonai test (this was thought to be the cause of ME in the 1990s).
- Overnight laboratory sleep study.
- IgG, IgE and skin prick allergy testing.
- DEXA bone density scan.
- Peak flow to measure lung function.
and probably two dozen other things over the years that I’ve forgotten about. Apart from my sleep study every single test was normal. In fact, some things like glucose and cholesterol weren’t just normal they were superb. It’s hard to be this sick, and this healthy, all at the same time ;-)
Despite all these extensive tests, however, my Ehlers-Danlos was missed completely, even though all the signs were there and my hypermobility was frequently commented on. EDS is considered rare (although I disagree!) and many doctors here haven’t even heard of it, so I don’t blame anyone for not picking it up. I didn’t expect my MCAD to be found as only a handful of consultants know about it yet here in England.
From what I know about M.E., EDS and MCAD (and I know a fair amount) my symptoms fit the bill and I’m happy that my diagnoses are correct. I may develop or acquire other diseases as I age but I know my body extremely well and I’m sure I’ll recognise when something changes and needs further investigation.