The universe of medicine, medical professionals, hospitals, medication and treatment is a universe all of its own. Different rules apply. Walking through the door of a medical establishment can evaporate a whole life.
People are disassembled into data packets: sets of signs and symptoms, each to be labelled with a diagnosis. The trick is to pick up your life and your personality again as you leave.
In the medical universe, my life is that of a jumper in a washing machine that goes round and round and with each turn, bits unravel. My medical history and experience of medical intervention has been chaotic. I have seen neurologists, nephrologists, cardiologists, pulmonologists, psychiatrists, paediatricians, gastroenterologists with various sub-specialities, opthalmologists and endocrinologists. A new diagnosis was added by many for years to come. Some, like Chiari Malformation, was later confirmed to be a misdiagnosis whilst others, like EDS/HMS, stuck.
I never thought of myself as a collection of labels, but every time I enter the world of medicine, my perspective shifts and it’s hard to see beyond this folder I carry in my head that contains all the scribbles of all the doctors that has come before.
I have been handed out diagnoses like lollipops. Some were little things – bursitis, tension headache, sprained ligament. Others were life changing – Hypermobility syndrome/EDS, generalized anxiety disorder, IgA nephropathy.
I have sifted through them over time, built little family tree graphs of how they may link up and found that the best way to manage my health was to focus on the conditions at the top that were trickling down into other conditions and symptoms, either causing or aggravating them.
I view the my primary health condition as Joint Hypermobility Syndrome/EDS and secondary to that: Migraine, Asthma, Dysautonomia, Depression, Anxiety & OCD, APD (Auditory Processing Disorder caused by a head injury) with chronic tinnitus.
There was a time when I didn’t think diagnoses matter, when there was no cure and no effective treatment options. I no longer feel that way. I think a diagnoses is important. I think there are effective management strategies – mainly eating well, exercise often, have good a sleep habits, remain balanced and learn to think well (therapy helped me a lot there) and stay focused on what is important.
Easier said than done, but not impossible. (Fingers crossed).
The difference a correct diagnosis makes
The first rheumatologist I saw to my immense good luck, specialized in connective tissue diseases, including Ehlers-Danlos/Joint Hypermobility Syndrome. A friend of mine was a med student, had just attended a seminar by said consultant in which hypermobility was discussed and remembered that I did some weird party tricks, just like the ones highlighted in the lecture. An appointment was arranged for me to go see the consultant.
I was 19 and arrived a psychological mess terrified of doctors and the webs they spin and the rides they send you on. This was a different experience. I had never seen a rheumatologist before. He examined me, did funny things like bend my fingers backwards, looked me in the eye and spent more time listening to me than anyone ever had before and didn’t diagnose me with anything. He said he needed to order some tests and refer me to some of his colleagues for their opinion and actually asked my permission. He explained each test he was ordering and why, each referral he was making and why and at the end of the appointment shook my hand and said, “I think it’s about time we get to the bottom of what’s going on with you.”
I made it to the front door of the hospital before I burst into tears. Finally, someone who didn’t think I was crazy and making up stories to get attention.
He collected medical notes, talked to past clinicians that had seen or diagnosed me. Sent me for tests. The most intriguing was the tilt table test, the worst the endoscopy as the local anaesthetic as ineffective, we managed to scrape the sides of my oesophagus which led to more bleeding than a shallow cut should have and I was choking on my own blood whilst a nervous student who was carrying out the procedure at this fine training hospital couldn’t stop apologizing as someone more senior took over. I have refused endoscopies ever since unless someone provides me with anaesthesia that actually works.
At the end of the process I was diagnosed with EDS and told that after extensive investigation by a multi-disciplinary team, they agreed that I had the following conditions that are associated with EDS:
- Postural Orthostatic Tachycardia Syndrome (POTS) and Reflex Anoxic Seizures/Syncope (possibly associated with my EDS/POTS diagnosis, but there was no clinical evidence to support it, although others have been diagnosed with both as well)
Some of the diagnosis I had received over the preceding 15+ years were also confirmed and he was sure that many of them were also related to EDS as except for APD and IgA Nephropathy, close relatives, who also had hypermobility, also had the same issues.
- Type 2 Brittle Asthma (family history of type 1)
- Refractory Chronic Migraine
- Chronic tinnitus
- Periodic Limb Movement Disorder (PLMD)
- Restless Leg Syndrome (RLS)
- Depression, generalised anxiety and OCD
- Auditory Processing Disorder (sustained after a motorbike accident caused a significant head injury)
- Nickle, mercury, pollen, fluffy animals and bee allergy
- Gastroparesis, GORD and IBS
- Raynaud’s, Primary hyperhidrosis and circulatory issues
- Intermittent Mitral Valve Prolapse (the intermittent part was strange, but chalked up to my strange family history)
- Although all the nephrology tests were normal, they had requested a copy of my biopsy done when I was 10 and it confirmed that I did have IgA Nepropathy, however it seemed to be in full remission with all nephrology test results normal.
I was stunned. I went home, went to the university library and started reading. For the first time in my life, I didn’t feel like a crazy person. Someone listened, really listened and came up with a rational, clear, empirical answer that took all the puzzles of my jigsaw, put them together and made a picture. Nobody had ever completed the puzzle before.
I haven’t received a new diagnoses since then (except meningitis that caused mild muscle hypotonia in 2002) and at the time, I thought that this would solve all of my problems. I always thought getting a diagnosis, knowing what’s wrong with you was the end of the road. I was wrong.
It begins a new road in the world of medicine that is a never ending struggle. Once diagnosed with not one but multiple rare conditions that most health professionals have no knowledge of even existing, it is an uphill battle to get them to accept that your condition is real, valid and supported by medical fact.
Every health professional I see fixate on their piece of the puzzle and me, my life, my world and worst of all my medical identity, is reduced to just that one small piece of data.
Everything is vanished and then everyone is always perplexed as to why I struggle to manage on my own, neglecting to realize that the failure to succeed in personal independence isn’t because I don’t want to or because I want attention or a free ride or an easy life. It’s because there isn’t just one piece to my puzzle and when you put the pieces together, life becomes quite complicated and symptoms quite debilitating. The whole is greater than the sum of its parts. Managing multiple cascading complicated health conditions with little or no help, is debilitating in itself.
Living with a chronic health condition has taught me many things. The most important has been that although I may not be able to control many things, although it often feels as if my symptoms tie my hands behind my back and the systems in place that is suppose to help pushes me off a ship into the ocean, the reality is that I am not helpless and I am not alone.
The world is filled with compassionate people. I am a resourceful, stubborn, resilient person. It is possible to live life to the fullest despite the severe impact of disability and chronic illness. I am sure of it.