The Moment I Realized I Would Never 'Get Better'

I was diagnosed with lupus and antiphospholipid syndrome more than 10 years ago. Catastrophic antiphospholipid syndrome, a type of thrombotic storm involving simultaneous blood clots in small and large blood vessels around the body, followed shortly after. Talking to lupus patients, a common frustration is how long it takes 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 10 years the cycle of organ-involving complications and severe treatments has continued unabated. From a bone marrow transplant to hemolytic anemia and from idiopathic angioedema to immunoglobulins and low immunity, and from epilepsy from blood clots in my brain to deep and superficial venous clots; it’s safe to say 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 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 almost daily. 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 loose and I’d read “severe generalized hypermobility” on my medical reports, so I Googled hypermobility specialists and found a rheumatology consultant highly specialized in this area. I went to the appointment hoping she would give me different physiotherapy exercises or perhaps a brace to stabilize my joints and could maybe also explain to me why I was becoming increasingly unable to walk 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 immune defects I knew I had, I also have 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. 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 it happens. When a joint dislocates it damages 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 weak. In practical terms that weakness means that that as blood flows through vessels with high speed aneurysms can form and the walls of the vessels can suddenly tear.

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. 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 a serious, systemic autoimmune disorder. I’d spent countless weeks in hospital, hooked up to IV lines and was injecting medication three times a day at home just to stay alive. Regardless something had failed to register. I closed my eyes when the specialist finished talking and said to her, “I’m never going to get any better than this, am I?” to which she simply replied “No, you won’t.” She went on to explain how POTS and Ehlers-Danlos syndrome become deregulated by inflammation, bed rest, blood clots, fevers, infections, the list went on and on. Interestingly both syndromes can also become deregulated without any reason, and they are progressive rather than static anyway. So in effect every single time I would get a symptom from any one of my inflammatory disorders, these two conditions would worsen. They would also deteriorate by themselves over time, causing increasing complications.

This was a cruel exchange in some ways, obliterating all hope. 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 downhill, then I could get better at adapting to my reality, at testing my limitations and in ensuring a constant thirst for beginning anew.

Years have passed since that conversation — 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 exchange. Then I take a deep breath and begin again.

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Thinkstock photo by Maria Dubova