As you know, my Dad has been having symptoms of an unspecified autoimmune disease for over 3 years now. The facts are:
- He has confirmed severe sensorimotor polyneuropathy
- He has confirmed Mild Cognitive Impairment
- He has confirmed inflammatory markers in his spinal fluid
- He has a small IgA kappa paraprotein in his blood, which is rare as kappa paraproteins are usually IgG.
- He is B12 deficient.
- He has a dry mouth, nose and eyes which wax and wane in severity
- He is constantly fatigued, ie he sleeps for 10 hours is only up for 3 then nods back off in the chair. He also nods off every afternoon and sometimes again while watching telly in the evening.
There is clearly something amiss, but after travelling 3,000 miles, to 5 different hospitals and seeing nearly a dozen consultants we are no further forward in finding out the cause of his symptoms. He doesn’t fit neatly into one illness profile and as each consultant only looks at their own speciality, ignoring anything else, no-one is piecing together the bits of the puzzle.
My best friend has also been struggling for over 2 years now to receive a diagnosis to explain what we suspect are auto-immune symptoms. One consultant said she had Palindromic Rheumatism, but 2 others have said she doesn’t! Her fingers have been swelling, turning weird colours, her skin is hard, shiny and flaky and she has pain and stiffness. She:
- already has an M.E. diagnosis
- already has a POTS diagnosis
- already has a Coeliac diagnosis
- has seen a marked increase in period pain
- has back pain which keeps her awake at night
- is low in iron, despite taking the equivalent of a handful of nails every day as a supplement and being a meat eater
- has had blood results which aren’t right, but aren’t quite wrong enough for an auto-immune disease
- is under-weight despite eating relatively well
- has been having infrequent bouts of severe stomach pain and vomiting
A uterine scan showed no problems such as fibroids or cysts. A scan of her hands showed the joints were not inflamed and, as her Rheumatoid factor blood work is all negative, she was told she didn’t have Rheumatoid Arthritis which she flippin’ well knew already. The scan did, however, show swelling in the soft tissues in her hands but the rheumy said that wasn’t his area of expertise – well who’s is it, then, exactly? Your fingers don’t randomly swell up like a bloody sausage and turn bright purple for no reason.
Both my friend and my Dad are so fed up of the fight for diagnosis they’re giving up. They can’t face yet another 6 month wait for an appointment to see a consultant who tells them everything they don’t have and not what they do.
Of course, this scenario won’t be news for many of you who, like me, struggled to get diagnosed with hEDS, MCAS or both.
Despite a lifetime history of classic hEDS symptoms, including:
- joint hypermobility which was commented on by both doctors and physios
- visible veins
- blue sclera
- soft, velvety, stretchy skin with tore easily
- rare issues like congenital spinal stenosis and scoliosis (both linked to EDS)
- gut issues since I was a very small child
- dental overcrowing necessitating tooth extraction
- easy bruising
- cigarette paper surgical scar
- hiatus hernia
- lifelong constipation
- and the fact my Mum is hypermobile, has pectus carinatum (a common finding in all types of EDS & Marfans) and had a collapsed lung for no reason in her early forties (a complication of EDS)
no-one even mentioned connective tissue.
I was told my chronic pain from childhood was because my parents had an unhappy marriage, I focused too much on my symptoms, was deconditioned as a result of having M.E. and/or was simply “overly sensitive to pain”! It didn’t help that every x-ray, blood test and scan was ‘normal’, from which the doctors concluded there couldn’t be anything physically wrong with me. Yet again no-one joined the dots.
Of course, getting Mast Cell Activation Disorder diagnosed was much, much harder! All the symptoms were there:
- flushing since birth
- dermographism since birth
- 2 years of lip swelling at puberty
- chronic migraine, which began at puberty
- pruritus (itching)
- chronic hives which began at peri-menopause
- hayfever which also began at peri-menopause
- going from being allergic to 1 drug as a teenager, to just about all drugs by the time I hit peri-menopause
- going from no food reactions to passing out every time I ate, at peri-menopause
- awful gut spasms and pain
- chronic, unremitting nausea
- oesophageal spasms
- difficulty swallowing
- chronic sinusitis
- tongue tingling and throat itching
- chronic cough
- over a dozen episodes of acute, grade III anaphylaxis
- and of course a diagnosis of both hEDS and M.E. (common MCAS bedfellows) not to mention endometriosis (another common link)
Yet I was told for years that my allergic reactions were actually panic attacks (not sure how that causes hives, dermographism or your lips to swell?!) because it was physically impossible to react to all drugs or all foods – this little gem, despite no tryptase or histamine testing during a reaction. My IgE (antibodies to an allergen) was normal y’see and that’s all the testing they needed. Oh, apart from when they actually did proper skin prick testing and found I was actually allergic to birch pollen, apples and my dog – FFS!
It is absolutely necessary to have diagnostic criteria for diseases. Having M.E. has taught me that, because I swear when a definitive test is actually developed around 1/3 of those currently diagnosed with ME will be found not to have it. Having said all that, diseases have common histories and symptoms and in the absence of a firm diagnostic test if it looks like a duck and quacks like a duck, the chances are it’s not going to be a fucking elephant but a small, feathered bird that loves water!
Both my Dad and my friend have obviously got some kind of autoimmune problem. They don’t fit neatly into a single disease profile but that isn’t a reason not to diagnose them with anything or not to try any form of treatment. Similarly, if someone clearly has mast cell mediator release it’s important to recognize that, even if specific testing isn’t available, and to treat accordingly. What’s not acceptable is to say you don’t perfectly fit the criteria for x, y or z so we are discharging you from our care, or even worse that your symptoms must therefore be all in your head.