I’ve been officially sick for over two decades now so I forget what it’s like to be newly diagnosed with a chronic illness. For me, being diagnosed with each of my diseases was a relief – it proved I wasn’t a hypochondriac, or mentally ill, having a panic attack, or simply “sensitive to pain”. But I appreciate for others it’s shattering and they have no clue what to do next. So this page is for those who think they might have M.E., Ehlers-Danlos or Mast Cell Disease (or in my case all three!) – I hope you find it useful.
Disclaimer: the views in this post are my views, after all it’s my blog, but as I say all the time I’m no expert and base my views on my own personal experience which will be different to your personal experience.
Jak’s Primer for Newbies
1. Get a proper diagnosis
It’s pointless (and can be harmful) trying to manage a disease you don’t have, eg. treating for MCAD when you actually have a dust mite allergy, or treating M.E. when you actually have Lyme Disease, or treating for Histamine Intolerance when you actually have Mastocytosis. An accurate medical diagnosis is crucial – you can’t self diagnose and just hope for the best.
Having said all that, actually obtaining an accurate diagnosis can be extremely hard. I’ve had blatant symptoms of both mast cell disease and Ehlers-Danlos since birth, yet wasn’t diagnosed with either until I was in my forties.
At one time or another nearly all my symptoms have been labelled as being psycho-somatic. The first time I was told one of my symptoms (severe back pain) was “all in my head” I was just 13. It eventually turned out I actually had congenital spinal stenosis as part of my Ehlers-Danlos which required surgery. I lost count of the times, over the years, I’ve left doctor’s offices in tears with a diagnosis I knew wasn’t correct or, worse, a psychological explanation or no diagnosis at all. But I kept at it and eventually found the right Consultants, though ended up having to pay privately (funded by my parents) and travel literally to the other end of the country to find good specialists.
I know some people only think they might have a particular disease, but for me personally when I read about the symptoms of Ehlers-Danlos Syndrome I knew absolutely that I had the disease. The same happened when I read about MCAD – I just knew that histamine was the cause of my symptoms. My challenge was to prove it. I was more lucky in my M.E. diagnosis, as my GP was really clued up on the disease, but I know many others aren’t as fortunate – do remember, however, that “chronic fatigue” isn’t M.E.
Receiving a proper diagnosis is such a validating experience and crucial to obtaining the correct care and management advice. Here’s how I’d suggest you go about it (bearing in mind I’m in the UK and obtaining diagnosis will differ in other countries):
Contact the ME Association and ask for their Purple Booklet. It provides a comprehensive diagnostic checklist for your GP. If your symptoms are extreme, as mine were, your GP should consider a referral to a Consultant Immunologist or Neurologist for more extensive testing – there are several ME/CFS Clinics now in the UK which include tertiary specialists and if your GP is stuck for who to send you to he/she could contact the Clinic for advice. Remember, the cardinal symptom of ME is “post extertional malaise” not fatigue. This malaise is often delayed, sometimes by 24-72 hours. If I go out for the day I’m often high as a kite when I get home – it’s only 48 hours later that I suddenly feel like I’ve got the raging flu and can barely crawl out of bed.
- Ehlers-Danlos Syndrome:
Diagnosis in the UK is usually made by a Rheumatologist, though occasionally patients will be seen by Geneticists. It’s important to choose a Rheumy with good knowledge of EDS – there is a list of specialist EDS Clinics here on my blog or on the EDS UK website. Diagnosis should include testing for a range of hypermobile joints (not just those listed on the Beighton Score sheet!), use of the Brighton Criteria, plus a detailed medical, symptom and family history. The diagnostic guidelines for EDS and hypermobility spectrum disorders were updated in the spring of 2017, so ask at your appt if the new guidelines are being used. Don’t forget to tell the Consultant about any gastro-intestinal, dental, eye, skin and other issues such as having a positive Gorlin’s Sign (being able to touch your nose with your tongue) or having “growing pains” as a child.
- Mast Cell Activation Disorder & Histamine Intolerance
If you suspect you have some kind of mast cell disease you first need to get your tryptase level checked. This can sometimes be done by your GP or if not a local Immunologist. If tryptase is high you will almost certainly have Mastocytosis and be referred to a specialist.If tryptase is normal, the next thing I’d recommend is to be referred to an allergy specialist for skin prick testing. You may have an allergy you didn’t even know about, eg. to the house dust mite. I had no idea I was allergic to my dog or to Birch tree pollen (and as a consequence some foods) until I was properly tested.
Although I have a couple of allergies, these didn’t explain all of my symptoms or my reactions to food and drugs. I very strongly suspected Mast Cell Activation Disorder, which can often go alongside having Ehlers-Danlos Syndrome. For me, there is only one person in the whole of the UK to see if you want a diagnosis of MCAD and that’s Dr Seneviratne at St Mary’s Hospital in London. Unfortunately it will cost you – hundreds of pounds – as he is currently not funded to diagnose or treat MCAD on the NHS so you will have to see him as a private patient. He will test your urine for tryptase and histamine and, if you can afford it, you can now have samples sent to America to be tested for leukotrienes. If these tests are abnormal, and your symptoms and history indicate mast cell involvement, he will want to trial you on antihistamines and/or Sodium Chromoglycate and if you respond it’s a good indicator that you have mast cell disease. He will also test your DAO level which, if low, indicates Histamine Intolerance. Dr S is well versed on the link between MCAD and EDS and wrote a paper on the subject for the new EDS diagnostic guidelines.
If you can’t afford to see Dr S privately, Dr Bethan Myers will also see MCAD patients on the NHS – details on my blog here. She won’t do the histamine and leukotriene tests that Dr S will, but may offer a skin biopsy or bone marrow biopsy that Dr S won’t so she’s definitely worth seeing.
2. Manage your symptoms
Once a firm diagnosis is reached it will allow your symptoms to be appropriately managed, which doesn’t mean they will go away but does mean they should lessen in severity and intensity, you will hopefully sleep better, have more energy, and feel generally less ill. For some people, though, despite the best management plan in the world they remain sick – there is no cure for these diseases and just because one person responds well to treatment doesn’t mean the next person will.
My advice would be to do one thing at a time. Don’t suddenly start a low histamine diet, and anti-histamines, and go gluten-free, and take Quercetin, and and and……! You’re not going to know what’s helping and what’s not.
Treat your most urgent symptoms first. In the case of MCAD things like anaphylaxis, oedema (ie swelling) and breathing issues, which can be life threatening, are a priority. For me, I was having scary anaphylactic reactions after I ate anything so diet was the first thing I tackled. It took 4 months for my reactions to stop, and at times during those months I felt horrendous and like I was getting absolutely nowhere, but I’d decided to try it for 6 months so I stuck to that. Thank God I did.
In the case of Ehlers-Danlos pain was my most pressing symptom, so finding joint braces and supports to stabilize my ligaments while they finally had chance to heal (which took several months) was crucial. For other people it might be gut issues which are most urgent, or treating POTS.
For anyone with M.E. rest is absolutely paramount and the sooner into your illness you do this the better. Rest until you’re so bored with resting you feel like you’re going insane. And then rest some more. Eventually, with a bit of luck and the wind in the right direction, your symptoms will start to stabilize and you can progress to phase two of managing M.E. – pacing rest with activities.
3. Don’t sweat the small stuff
Despite being on antihistamines I still regularly get hives, my skin itches every day of my life and the first thing I do every morning without fail is sneeze my head off. I have no idea why this happens and, to be honest, I don’t really care. It’s annoying but it’s hardly going to kill me, so I simply don’t worry about it. You have enough on your plate without sweating the small stuff and it’s unrealistic to expect to be totally symptom free.
4. Patience is a virtue
As diseases like Ehlers-Danlos and MCAD are so hard to identify, many sufferers have had symptoms for decades (or in some cases since birth) before obtaining a diagnosis so you can’t then expect to just take a few anti-histamines, or have 2 weeks of physiotherapy, or follow a low-histamine diet for a week or three and see a huge change. Be patient. So long as it’s not making you worse, stick with any management plan for 3-6 months and only if you then fail to see improvement should you try something else.
In the case of M.E., expect to take at least a year off from your life, and that includes work. IMHO, no-one with strictly defined M.E. will recover while they are working or carrying on life as if nothing is happening. If you don’t take time out you can guarantee that the illness will progress in severity until it forces you to take time out, and by then chances for any kind of substantial recovery have already dwindled. I wish someone had told me this when I first got sick and I wish I’d listened – maybe then I might not still have M.E. this severely twenty years later.
5. Accept there is no cure
If there were a cure for MCAD, Ehlers-Danlos or M.E.. I wouldn’t be writing this blog. I’d be on a beach in the Bahamas swimming in the warm ocean, drinking wine and working on my tan.
On a more serious note, it took me 6 years after my diagnosis of M.E. in 1994 to realize that I wasn’t ever going to be well again. My old life was gone. It’s a huge thing to have to come to terms with and is a process which will be different for everyone. However, in accepting I will always be sick I found peace and could start living again.
I watch many newly diagnosed people frantically researching their disease online and joining every group going in the hopes of being cured. They read about one person who tried a gluten-free diet, or did the MTHFR protocol, or followed a plant based diet, or tried Prolotherapy and healed themselves and they think by trying it too it will cure them. If you heal yourself by not eating gluten you had a gluten intolerance, not ME, EDS or MCAD. Please be aware that the people cured in this way obviously didn’t have the disease(s) which you do.
If not eating folic acid or gluten cured ME, EDS or Mast Cell Disease do you really think the government wouldn’t be on the case – they’d do anything to save money and sick people are expensive! If I could tell newly diagnosed people one thing it would be to not believe everything they read on the internet and to save themselves years of time and effort and just accept they’re sick. But I know you’ll all ignore me and try the “miracle cures” anyway because it’s part of the journey to accepting you’re chronically ill. I’m not saying changes in diet and lifestyle, or certain supplements etc., won’t help some symptoms, but they absolutely won’t cure you.
Chronic diseases are, by their very definition, chronic. The dictionary explanation of “chronic” is: constant; continuing a long time or recurring frequently; having long duration.
6. There is light at the end of the tunnel
It won’t always be this bad. I promise.