David Johnson on Falling Down the Rabbit Hole
I fell down the rabbit hole, like Alice, in 1990. A rabbit hole populated with ‘Bendies’ and ‘Zebras’ rather than Mad Hatters and Cheshire Cats. This unusual journey is at last starting to make some sense.
It began with a bad viral infection, or so I thought. After failing to recover, and following a protracted battle with my GP, I was diagnosed with Post Viral Fatigue Syndrome in 1992. I now know that the story began years before. Being born with an unusual birth defect of the feet – congenital vertical talus that was surgically corrected – was the first of many clues.
Throughout childhood I was fragile and I grew into a skinny bean-pole with short-sight and loose joints, although otherwise fit and active. After leaving college I combined a job in retail with volunteering, only this did not last because after 18 months my knees gave in. It took five years, many inconclusive hospital visits and slow rebuilding to become reasonably functional again. During that time I developed a new career that led to me to help found an electronics engineering business.
Three years in and the virus hit and it has been a down hill path from then on. The diagnosis of Post Viral Fatigue morphed into ME and CFS as name fashions changed. Other symptoms appeared year on year; hospital visits followed one after another. CFS specialists, neurologists and generalists alike would see the CFS label and look no further. Meanwhile my health worsened and in 2007 I was forced to give up the work that I loved.
Battles with DWP and ATOS followed, first over Incapacity Benefit then Employment Support Allowance (ESA). After two face-to-face assessments at locations totally unsuitable for disabled access, I decided to challenge ATOS for their failure to make reasonable adjustment under the Equality Act, drawing upon knowledge of civil law gained through running a business. After a tough fight I was eventually awarded a substantial settlement; I like to think that my case contributed a little to ATOS’ decision to quit the ESA contract.
The court case required an expert medical report and this was prepared by Dr Gabrielle Murphy from the Royal Free Hospital’s CFS Service. She undertook the most complete review of my medical history that I have ever had. Her conclusion: CFS was not the right story, or at least not the whole story. She was the first doctor in 20+ years who had recognised the red flag signs for heritable disorders of connective tissue that had been there all along: hypermobile joints, marfanoid build, a history of soft tissue injury, birth defects, allergy and low anaesthetic tolerance.
Since 2013 I have visited cardiology, clinical genetics, EDS and POTS, ophthalmology, neurology and rheumatology clinics; visiting twelve hospitals in five cities. My diagnosis changing to Hereditary Alpha Tryptasemia Syndrome (HATS) with secondary Hypermobile Spectrum Disorder (HSD), Postural Orthostatic Tachycardia Syndrome (POTS) and spinal CSF leak. Any of these is enough to account for the pain, fatigue and exercise intolerance that have been my primary issues all along. Although I probably did have post viral fatigue this was merely the trigger for the downward spiral caused by the underlying genetic disorder.
Bendies and Zebras
HSD, previously named Joint Hypermobility Syndrome, is among the heritable disorders of connective tissue (HDCTs) along with Ehlers Danlos Syndromes (EDS), Marfan Syndrome, and others. Connective tissue holds us together, it gives structure, resilience and elasticity to ligaments, muscles, organs and skin. If it goes wrong, so can everything else. Doctors should remember “if you can’t connect the issues think connective tissues”. HDCTs are genetically inherited and cannot, for now, be fixed.
Common signs are loose and hypermobile joints – hence “Bendies”. Hypermobility in itself is relatively common, particularly in young women. It only becomes HSD or Hypermobile EDS (hEDS) when pain, joint instability and dislocations arise, and occur with signs like soft stretchy skin. It is diagnosed using the 2017 International Criteria [1,2]. If the other signs are there, you don’t even have to be bendy to have hEDS.
POTS manifests as difficulty maintaining blood pressure when upright and it frequently co-occurs with HSD/EDS. Low blood pressure causes excessive heart rate, palpitations, headaches, fatigue and fainting. It has now also been recognised as co-occurring in ME/CFS – how many of these are also cases of undiagnosed HSD/hEDS?
Doctors are taught that “if you hear hoof beats, expect to see horses” – common signs and symptoms usually mean common diseases. The problem is there are also zebras out there. Those with rare diseases, particularly Bendies, have taken to calling themselves Zebras. We are too often overlooked because our symptoms are associated with more common conditions. We are routinely treated as horses and it takes many of us years to get a correct diagnosis.
The way health services are organised into many narrow specialisms creates significant problems for anyone with rare or under recognised systemic disorders. GPs are out of their depth and patients are passed from one clinic to another with consultants failing to see the big picture and none taking overall responsibility for care. Many bendy zebras are wrongly labelled as having ME/CFS and/or fibromyalgia because these common conditions match their symptoms. Many consultants in specialities likely to see bendy zebras know little about HSD/EDS/POTS and what they do know could be out of date. The field has moved far and fast in the last few years. Experts such as Graham  and Castori  now believe that HSD/hEDS are not rare, just rarely recognised and diagnosed.
This matters if you show any of the signs of Marfans or Vascular EDS as I did. Diagnosis could be a life saver, as these rare HDCTs have life-threatening complications if not found and correctly managed early enough.
If my story strikes a familiar chord then I urge you to learn about HSD/EDS and POTS. The weird world down the HSD/EDS rabbit hole makes a lot more sense and is easier to live with when you understand what is happening. Most treatment for HSD/hEDS is similar to the pacing and symptom management used in other energy-limiting chronic illnesses. However, there are important differences: the right kind of physiotherapy and targeted exercise work can help reduce some of the pain and fatigue and improve joint support, particularly if started early before too much fitness is lost and joint damage is done.
by David Johnson
References: Royal College of General Practitioners; The Ehlers-Danlos Syndromes Toolkit  HMSA: Beighton Score  Grahame: Joint hypermobility: emerging disease or illness behaviour?
Clin Med December 1, 2013 vol. 13 no. Suppl 6 s50-s52  Castori: Ehlers-Danlos Syndrome, Hypermobility Type: An
Underdiagnosed Hereditary Connective Tissue Disorder with
Mucocutaneous, Articular, and Systemic Manifestations
ISRN Dermatology Volume 2012, Article ID 751768
Would you like to write a guest post for our ongoing series? Subscribe to our mailing list to find out more about this and other opportunities, such as taking part in the online discussion forum and contributing to surveys.