The moment I realised I would never get better

I was diagnosed with an atypical form of lupus and a rather severe form of antiphospholipid syndrome over ten years ago. Catastrophic antiphospholipid syndrome, a type of thrombotic storm involving simultaneous blood clots in small and large blood vessels, followed shortly after. When talking to other people with autoimmune disorders, a very common frustration is how long it can take to get from the first appearance of troublesome symptoms to diagnosis. That was never an issue in my case.

My disorders’ unusual and cataclysmic presentation ensured a rapid response from doctors and the immediate start of intravenous chemotherapy cycles. It took two months from the appearance of the first symptom to get a diagnosis and access to treatment. For the past ten years the cycle of organ-involving complications and severe treatments has continued unabated. From a bone marrow transplant to haemolytic anaemia, from idiopathic angioedema to immunoglobulin infusions and low immunity, and from epilepsy from brain clotting to deep and superficial venous clots; it’s safe to say that it’s been a long time since I was ever truly well.

A few years ago I noticed I could no longer stand upright for more than a couple of minutes without becoming very dizzy, weak and unsteady. Initially I chalked it up to just another bizarre cluster of symptoms and decided to ignore it, if only to see if it would go away on its own. At the same time my joints began dislocating with increasing frequency. I was referred to a physiotherapist, but after a few months of physio exercises aggravating the problem I decided to go to a specialist.

The physiotherapist had mentioned my joints were very loose and I’d read ‘generalized hypermobility’ on my medical reports, so I googled hypermobility specialists and found a rheumatology consultant highly specialised in this area. I went to the appointment hoping she would give me different physiotherapy exercises or perhaps a brace to stabilize my joints. I also hoped that she could maybe also explain to me why I was becoming increasingly unable to walk very far without my knees dislocating.

The specialist read all reports, listened to my story and examined me. She then proceeded to say that on top of the autoimmune conditions and immune defects I knew I had, I also had a genetic mutation that makes collagen weak. Collagen is a protein found in all of the body’s connective tissues. In layman’s terms it is the material that helps scaffold a person’s joints, muscles and tendons. When collagen is defective, joints no longer have a normal range of motion and can slip in and out of their sockets multiple times a day.

Now I know what you’re thinking. Surely if a process like that is repeated often enough it can no longer be painful, but actually pain worsens each time a dislocation occurs. When a joint dislocates it tends to damage the muscles and tendons that surround it and every time the process is repeated those muscles and tendons get more and more irritated and damaged. Defective collagen also affects the walls of blood vessels around the body, making them significantly weaker than average. In practical terms that weakness means that as blood flows through vessels with high speed, aneurysms can form. As if that wasn’t enough, as a bonus that also means that the walls of blood vessels can suddenly tear spilling blood inside the body with, oftentimes, very unpleasant and dangerous results.

I asked the specialist what I could do to stop this process. I was used to having medical emergencies where doctors could intervene to stop a disease process from continuing with varying levels of success. Only this time there was nothing to do. This was a genetic defect; my body was built with a defective protein and that would never change. I asked about the difficulties I was having standing upright and, after yet another examination, I received a clinical diagnosis of postural orthostatic tachycardia syndrome – often referred to as POTS – as well.

To explain this a little bit more POTS is a form of dysfunction of the autonomic nervous system, that is the part of the nervous system that controls unconscious functions like breathing, digestion or one’s heartbeat. The specialist said tests would be needed to confirm both diagnoses. To top all this off she emphasized that my inflammatory and thrombotic disorders precluded any sort of treatment for POTS.

By this point years had past from my initial diagnosis of, what had by that time evolved into, three serious, systemic autoimmune disorders. I’d spent countless months in hospital, hooked up to IV lines and was injecting medication three times a day at home just to stay alive. I had spent time unable to see from optic nerve inflammation and clots, unable to walk from encephalitis and strokes, unable to breathe from pulmonary embolisms. Intellectually I had always known this was the result of incurable disorders and that my life had been irrevocably changed.

Regardless something had failed to register until that day. ‘I’m never going to get better am I?’, I asked not really expecting an answer. The specialist replied that I would only get worse. She went on to explain how POTS and Ehlers Danlos Syndrome (the fancy name for the collagen defect) become deregulated by inflammation, bed rest, angioedema, blood clots, fevers, infections, the list went on and on. Interestingly both syndromes also become deregulated without reason and are progressive rather than static anyway! So in effect every single time I would get a symptom from any one of my inflammatory or thrombotic disorders, these non-immune mediated conditions would also worsen. They would also deteriorate by themselves over time, causing increasing complications.

The consult, the conversation was cruel in some ways, obliterating all hope of an eventual recovery. In other ways it was one of the most liberating conversations I’ve had in this journey. If there was no hope of recovery, a hope that through the years had been close enough to dream of but never touch, then there was immense hope in beginning again. If I couldn’t get better medically and the only way forward was down, then surely I could get better at adapting to my reality, at testing my limitations and in ensuring my thirst for beginning anew never ended.

Years have passed since that consult. Years laden with more complications, deteriorations and medical emergencies. And yet without fail when I hit a medical rock bottom, I close my eyes and remember that day. Then I take a deep breath and begin anew.

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