It’s international Rare Disease Day, for the 300 million people worldwide (1) who live with a rare disease – including me. This is a summary of my introduction to the rare disease world, as an adult. This in itself is rare, as most rare conditions affect children rather than striking in adulthood.
Once upon a time… Okay, seriously, let’s start again! In 2016 I had a healthcare career that I adored, working in bioethics; sometimes called healthcare ethics or biomedical ethics. My work – whether managing a Research Ethics Board (an REB, called a IRB for independent or institutional ‘Review Board’ in some areas), or protecting patient privacy, or anything else – was always about ensuring that the rights of patients were being respected.
One wintry evening in March I slipped on black ice and broke my arm; I knew by looking at it that it was a fracture, from my years-ago military First Aid training. The ends of the bone were sticking out where they shouldn’t be, but neither end had pierced the skin. It was painful, but I knew that once the bone was set the pain would subside – I’ve had broken arms before.
After a quick mental calculation, I decided to drive myself home. The car had an automatic shift that I could manage using only my left hand, and it would have taken longer for my husband to come get me and drive us back to the hospital than for me to go home and then have him drive to the hospital near our home.
Besides, I wanted to change out of my favourite office outfit because the sleeve would probably have been cut off of it at the hospital. So I headed carefully home, staying off the highway and avoiding the worst of Montréal’s potholes, and even stopped to pick up a coffee for my sweetheart. Having worked in a hospital, I knew how horrid the waiting-room coffee would be.
It was a simple broken wrist – a Colles’ fracture – that wouldn’t need surgery. The bone was set by a fantastic physician in our community hospital’s Emergency Department, with x-rays before and after to ensure proper alignment of the bones. We headed home at about 0200, in the middle of the night, and got up the next morning and both headed off to work. I stopped by my pharmacy at lunchtime, to pick up the pain medication that had been prescribed, because the hospital pharmacy had closed by the time we left. I was on the mend, or so I thought.
Within ten days of the fracture, I woke up one night feeling as though someone was holding a blowtorch to my fingertips. I got up and ran to the washroom, fulling expecting to see blisters or burns on my hand once I turned on the light. My fingers were swollen and had turned red, but that was all. The pain was excruciating, so I called our emergency services line (an 811 number locally) to ask for advice. The nurse there advised me to go back to the hospital, saying that swelling of a sleep position might have caused the cast to start cutting off the circulation to my hand.
That made sense, so I woke my husband and we headed back to the hospital. After another x-ray to confirm that the bone was still properly positioned, a different doctor cut open the cast along its length and then closed it with an elastic bandage. This would keep my fractured arm immobilized, while allowing a bit more room for my badly swollen fingers. I already had a referral to an orthopedic specialist at the hospital, so she suggested that I wait for that upcoming appointment and see whether the burning pain in my fingertips would subside by then.
For the next few days, I was unable to sleep due the unrelenting pain in my fingertips. I couldn’t eat without vomiting, from the pain. Even worse, the pain seemed to be spreading further up my fingers. When I saw the orthopedic surgeon to whom I’d be referred, at that same hospital, he was dismissive of my pain. Looking back, I’d say he disregarded and even disrespected me as a patient – at the time I was in so much pain that I barely noticed; it was my husband who later pointed this out to me, as he’d accompanied me to that appointment.
As someone who had a career in healthcare, here in Canada, I had no doubt that I would receive the care that I needed – even if that meant waiting a few hours as I had in the Emergency Room. Instead, experiencing excruciating pain and severe swelling, I was told to “try Voltaren Emulgel” – which of course did nothing for my symptoms, other than worsen them.
I asked whether physiotherapy could help, and his offhand response was: “Sure, why not? But the hospital can’t cover it.” So I started physical therapy at a private clinic even before the cast was removed; he had replaced the cut-open cast a few days after my second visit to the Emergency Department. I also got his permission to go back to my gym to use the stationary bike, as exercise has always been my way to deal with stress – and this pain was definitely causing me stress! His only advice was to “not sweat too much or the humidity will damage the cast”.
Despite repeated consultations with this physician, and the fact that the symptoms continued to evolve and spread further up my hand, he dismissed each of these symptoms. At one point, I told him that it didn’t make any sense that my pain was three times worse – weeks after the fracture – than it had been when I first broke my arm. He laughed that off, telling me that fractures could be more painful as we age.
He never acknowledged the obvious swelling of my fingers, nor their deep reddish-purple colour. He simply reiterated that I should keep my arm raised, something that I’d been doing since the swelling began – to no effect. The “care” I received was so bad that, at one point, I’d been told (in French, even though I speak English) “stop exaggerating madam, you’re not a child!” My legs had begun trembling while my arm was being re-casted, because the pain was so intense, and that was what I was told. I was so shocked that I couldn’t speak. My husband was in the treatment room with me, and he didn’t know what to say either; we were both stunned.
By the time the cast was finally removed after six weeks, each of my finger joints was swollen and slightly misshapen; I couldn’t move my finger joints. Again, this orthopedic specialist said that this was normal “for older adults”. I hadn’t hit that milestone fiftieth birthday yet, but it was true that I was no longer the teenager of my past fractures.
But I had checked with colleagues and friends who had broken their arms at about the same age – and with their friends – and no one had experienced any of the bizarre symptoms that I was living with. Not a single person had the feeling that their fingers were being blowtorched – a sensation that never went away.
By the time the cast was removed, the symptoms had spread from my fingertips to about halfway up my hand. They included skin colour and temperature changes, joint rigidity and deformation, bone pain, the feeling that my hand and arm were on fire, and what I later found out was allodynia; an extreme sensitivity of the skin to touch… Even a light breeze or the touch of fabric on the skin in the affected areas was excruciatingly painful. My hand also had red “stripes”, darker red areas that ran across the joints of each finger.
At this point, after the cast was removed, I asked for a second opinion. I didn’t believe that there was nothing wrong with my hand, that all of these symptoms were “normal” after a simple fracture that hadn’t required surgery. The orthopedic surgeon to whom I’d been assigned refused that request. He told me that he was, in effect, the gatekeeper of my fracture care and that it was up to him to approve or refuse any request for a second opinion.
When I told my physiotherapist about this, she wrote a letter for me to bring back to that orthopedic surgeon, requesting a second opinion as a physical therapist. This time, he listened. He called over another orthopedic specialist, who leaned on the doorway of the treatment room where I was sitting on an examination table.
That second physician didn’t even need to examine me; he could see my red, swollen, and striped hand from the doorway. My ‘second opinion’ asked me three simple questions, and then provided a diagnosis. Three letters that would change my life. He pushed off from the door frame, looked back at me, and said: “Good luck”.
Those three letters? RSD, the older name for CRPS. Within moments I had a diagnosis, from a physician who hadn’t even needed to examine me. While for almost three months I’d been insisting that something was wrong, and been dismissed, disregarded, and disrespected by the physician who was supposed to be treating me. My initial ortho specialist now turned green, fell into his chair, and immediately began making phone calls to get me an “urgent next-day consultation” with another specialist.
The next day was a Friday, and my appointment with a neuro-anaesthesiologist at the same hospital was set for 1115. He would, I was told by the physician who had dismissed me for three months, confirm my diagnosis and “do an injection into your hand that would make everything better”. Which turned out not to be the case, of course.
The neuro-anaesthesiologist completed an examination and series of questionnaires with me, that seemed to take almost an hour. I was seated on a gurney, in a bay of the preparation area for the day surgery operating room, wearing my office clothing. I was also asking him questions, and mentioned that I was familiar with several of the questionnaires he was using because of my own research ethics experience.
We quickly came to an agreement; he’d speak to me as he would to a nurse, and I’d ask if I needed any clarification. “Good”, he said, “because this is going to get complicated.” He confirmed the diagnosis of RSD, but advised me that Reflex Sympathetic Dystrophy was now called Complex Regional Pain Syndrome or CRPS. But that many physicians disliked the new term because… and he paused. “Because it’s a ‘fluffy’ term?”, I asked. “Yes, exactly. It doesn’t convey anything about the condition, so many of us still use RSD.”
He provided a brief overview of CRPS (the newer name is much more widely-used by now, several years later), and then told me that mine had progressed too far up my hand for him to place a nerve block injection there. Instead, he would have to “go in under your carotid artery using a long ultrasound-guided needle, to inject a nerve block into the ganglion or star-shaped group of nerves in your throat. The stellate ganglion is between the trachea, esophagus, and spinal cord at about C7, so when I tell you not to move – don’t move.”
The idea was to start my treatment by halting this disease, preventing it from spreading any further up my hand and arm. By this point, about three months after my initial fracture, the symptoms had spread to just above the wrist on my right arm.
I was too relieved to be nervous about this procedure. Finally, a physician agreed with me that something was wrong. Nothing that I had experienced was “normal”, and the pain that I had been feeling was completely out of scope for a simple fracture. If only… if only that ortho surgeon had listened to me, or accepted my request for a second opinion, then maybe I could have received appropriate medical care sooner – and suffered less.
That Friday morning in late May I finally had a diagnosis, a name for my pain. The neuro-anaesthesiologist left for a few moments, and I expected him to return with an appointment slip for the injection that he’d described. Instead, he came back and handed me a hospital gown:
“Put this on, and don’t even try to tie the back with your hand so painful.
Leave your brassiere and underwear under the gown, so you don’t have to worry about showing more than a bathing suit.
In any case, you’ll be on the gurney.
Once you’ve changed, open the curtain so I’ll know you’re ready.
You can put your clothes into this little locker, and put anything valuable into this little bag that we’ll keep on the gurney with you.
Oh, and take off any jewelry [he threw a quick look at my left hand] – except your wedding ring.”
Somehow I hadn’t understood quite how serious this procedure really was, a Stellate Ganglion Block. I suppose there was so much information for me to take in, after three months of having my symptoms be disregarded. For some reason I expected him to wheel a portable ultrasound machine up to my gurney, in that pre-op area, and inject a nerve block while I was sitting there.
Of course, that’s not what happened. Behind the scenes, I found out later, he had sent someone running down to the hospital’s Admissions Office with my provincial health card to get me admitted for immediate day-surgery. By 1215, when our consultation had only begun at 1115, he was wheeling my gurney into the day-surgery operating room (OR) himself. Just outside the doors, he paused so that someone could wrap that hospital bracelet around my left wrist – I wouldn’t have been allowed into the OR without it.
We did another five of those Stellate Ganglion Blocks within about ten business days, and stopped my CRPS in its tracks. We stopped it from spreading any further, that is. We couldn’t reverse the damage that had already been done – during those three months when this rare disease was allowed to progress untreated and unchecked.
These were only the first in a long line of treatments that were tried – and failed – to address the original symptoms of CRPS. Since then, I’ve repeatedly been told by other healthcare professionals and researchers that when CRPS is diagnosed and treated within the first three months it will often resolve – simply go away. I never had the chance to find out whether that would have been the case for me – because I spent those first three months struggling to be taken seriously by that one ‘gatekeeper’ orthopedic surgeon.
The hospital investigation, following my patients’ rights complaint, found that this orthopedic specialist had failed in his duty of care to me – as his patient. The later review, however, by the Disciplinary Committee of the regional Council of Physicians, Dentists and Pharmacists (CDPD) found no fault. He didn’t even receive a slap on the wrist, while I got a ‘life sentence’ of severe pain and other symptoms.
CRPS is considered to be both an autoimmune disease and a neuro-inflammatory condition, so I now live with a range of symptoms from full-body autoimmune fatigue and a mild cognitive impairment to continuing neuropathic or nerve pain in my right hand and lower arm.
That ‘mild cognitive impairment’ by the way, on the neuro-inflammatory side of CRPS, stole my beloved career in bioethics at the end of 2018. It also stole my plans to complete a PhD after I retired, to do bioethics consulting long into my post-retirement period… and so many other plans that both my husband and I had made.
I’ve adapted as best I can, and now put my healthcare and bioethics knowledge to use as Patient Partner in pain research. I volunteer as a mentor to others living with chronic pain, have co-authored research papers in healthcare and scientific journals, and am involved in chronic pain projects with several different organizations.
And two years ago I started learning to paint – and to draw – as a form of DIY movement-therapy for my hand and arm; using watercolours. I’m also hoping, based on brain-plasticity research, that painting might help prevent my cognitive issues from worsening over time. I now also use my art to raise awareness of chronic pain, and of CRPS, and coined the hashtag #ArtDespitePain. (2)
I try not to think about what might have been, if only that one orthopedic physician had listened to me at the start of my CRPS symptoms… That we might have cured my CRPS if it had been diagnosed and treated at the outset. But today, on Rare Disease Day, I let myself think about that – so that I can speak out and hopefully prevent this from happening to even one other person, to one other life:
Failure to treat [CRPS] early may result in lifelong pain, loss of function, or even amputation; unemployment and prolonged disability are common…
Early treatment can lead to near resolution of the syndrome and the prevention of long-term pain, loss of function, and disability.” (3)
References
(1) European Organisation for Rare Diseases. What is Rare Disease Day. Webpage. Undated. Online:
www.rarediseaseday.org/what-is-rare-disease-day
(2) Woods, S. Art Despite Pain. ArtSites Website. Undated. Online:
https://www.sandrawoods.art/page/art_despite_pain
(3) Winston P. Early Treatment of Acute Complex Regional Pain Syndrome after Fracture or Injury with Prednisone: Why Is There a Failure to Treat? A Case Series. Pain Res Manag. 2016;2016:7019196. doi:10.1155/2016/7019196:
https://www.hindawi.com/journals/prm/2016/7019196/