Muckle-Wells Syndrome: I’ll never know for sure, but I think my daughter saved my life

Ian-2

I have a rare genetic disorder.

It’s actually not that uncommon to have a rare disorder. In fact, over 8000 disorders have been identified and the Canadian Organization for Rare Disorders estimates that 1 in 12 Canadians are affected. Most of these people are misdiagnosed and many of them suffer as a result. Their families suffer too, as you can imagine.

I was repeatedly misdiagnosed for three decades. This happened because I had many different symptoms and the relationship between them wasn’t obvious. I regularly had full body rashes, arthritis that shot from joint to joint, constant fevers and headaches, bloodshot eyes, cold sores and even started to lose my hearing in my mid-20s. My family doctor referred me to a number of different rheumatologists, dermatologists, internists, ophthalmologists, otololaryngologists and allergists. I also saw naturopaths, acupuncturists, nutritionists and doctors of traditional Chinese medicine, just to cover my bases. I was poked and scanned and twisted over and over again while being prescribed different medicine on a regular basis with the hope that “maybe this one will work”. My journey was so long and exhausting that I eventually gave up searching and conceded that I would just have to live with my chronic pain and discomfort.

It wasn’t until 2012 when my first daughter was born that things changed. She was born having some of the same symptoms as I had. We made our way to Toronto’s SickKids Hospital, where we were both offered genetic testing. Those were the first genetic tests I had ever been offered, and they remarkably led us straight to a diagnosis: my daughter and I had Muckle-Wells Syndrome (MWS). The single gene mutation that I, unfortunately, passed to my daughter causes dysregulation in the production of a protein in our bodies so that it accumulates and causes inflammation. The doctors told us that the prevalence of MWS was 1-in-a-million, with my daughter and I being numbers 12 and 13 in Canada. Left untreated, 1/3 of people with MWS can be expected to die from the complications of amyloidosis (i.e. a protein build-up in your kidneys) by the age of 36. I was 32 at that time.

There is no cure, but luckily there is a treatment. The treatment was (and is) very expensive and it partly suppresses our immune systems. Even though we have to take injections of this biologic medicine for the rest of our lives in order to mask our symptoms and stave off amyloidosis, we count ourselves among the lucky ones. Not everyone who has MWS or other similar autoinflammatory disorders will be able to access this expensive miracle drug. It will depend on where they live, whether they receive an accurate and timely diagnosis, whether they have health benefits (either public or private) and whether their benefit plan actually agrees to pay for the medicine (it costs over $100K/year). Many people have no choice but to live under the heavy weight of their symptoms while never knowing what pain and discomfort tomorrow might bring them, that is, if they see tomorrow at all.

My life changed after my diagnosis. I started to learn about rare disorders more broadly and I started to get involved in the “rare disease” community. I did my best to raise awareness about MWS too, because although it was nice to have a treatment, a cure for my little girl would have been much nicer. I became an advocate. I was admittedly already a lawyer at that time, but this type of advocacy was much different. It was deeply personal and driven by a sense of guilt for having burdened my daughter with my faulty genes. Why did I give up looking for answers? Why couldn’t I have persisted a little while longer and maybe found a way to save her from this pain? I realized that I owed it to her to do more for her right now – not to hope or wait, but to get out there and do.

I became involved with the Canadian Organization for Rare Disorders, where I met amazing people from all over this country who were fighting for their lives and for the lives of their loved ones. I quickly learned that my story wasn’t as uncommon as I had thought – that there was a growing community of people just like me and that they actually cared about each other. They saw their own struggles in one anothers’ eyes and they supported one another just as much as they advocated for their own causes. I learned that I wasn’t the only one who thought the system had let them down and I definitely wasn’t alone in wanting it to change. I learned that people with rare disorders fall through the cracks in our healthcare system, but that every so often someone finds a way to fill one of those cracks and it helps the person who is coming behind them.

The individuals and families who are affected by rare disorders become experts in their own disorder(s); they carry their medical histories with them; they teach each successive doctor about their symptoms and the treatments available, if any. They get frustrated by the constant fight for recognition and they feel abandoned by a system that they too pay their hard-earned money to sustain. People who have rare disorders are easily lost in a healthcare system that has been designed to assist those who have more common diseases. The people who don’t quickly drown within that system are only able to stay afloat because they have the capacity, resources and patience to reconfigure the system so that it meets their needs as an individual instead of trying to fit them into categories designed for someone else. Most people who have rare disorders will only see success if they can force the system to personalize, rather than to generalize.

I learned all of this by getting involved in this new community that my daughter and I were now part of. I read, I listened, I went to conferences and introduced myself to new people. I treated my health as though it was my second full-time job and I put in the hours that were needed. I never forgot how privileged I was to be able to do this, but I also questioned myself at every step. It was comforting and reassuring not to feel alone anymore, but I questioned whether my contribution added anything to the voices of those who were already in the room? I wondered if given my experiences, education and skills there might be some other space I could occupy in order to tackle these same issues, but through a different lens? I decided then to quit my job and go back to graduate school. My hope was to become a professor so that I could put myself in a position to be considered a thought-leader. My experience as a patient had been traumatic, but perhaps there was a way that it could inspire and empower me? If I could legitimately earn a seat at “the table” (you know, the table that patients are rarely invited to) perhaps I could influence the system from the inside? I promised myself then that no matter where my journey took me, I would always be a patient and a parent first, and my family and my community would always motivate me.

It has been six long years since my wife and I decided that I should quit my job. I ended up defending my PhD from Osgoode Hall Law School in December 2019 and then becoming an assistant professor of Canadian Public Law and Governance in the School of Public Policy and Administration and York University in July 2020. My research focuses in part on public sector ethics and accountability (which are the areas of law I practiced in), but more so now on new healthcare technologies, how we use them, and on healthcare policy more generally. Remember that story of the person with a rare disorder who fights to make the healthcare system treat them like the unique person they are and not as though they are merely one person in a broader class of similar people? That story is now being reflected back to us through the fast-moving push towards technology-driven personalization in healthcare. Whether the industry acknowledges it as one of its motivations or not, healthcare is starting to do exactly what the rare disease community has been asking it to do all along: provide personalized precision care that is tailored to each individual.

From building electronic health records, to having patients use wearables so that we can analyze the data, to the prospect of integrating artificial intelligence into clinical care, doctors are now asking more questions about who their individual patients are. Genetic science is also advancing as the cost to conduct testing is coming down. New technologies and techniques like gene therapy, genome editing, 3D bioprinting, pharmacogenetic testing and multi-omics research stand to change the face of healthcare forever. It is clear that the healthcare system of our future, at least philosophically, will be able to learn a great deal from the shared experiences and unique perspectives of members of the rare disease community. But it is not patient discontent that is motivating everyone to move in this direction, it is a shared excitement about new technologies that is acting as the driving force. Patients are still here trying to make their voices heard, but the ship appears to be moving with or without them.

So this is where I focus my time and energy now. I research and write about new technologies. I hope to help move the conversation forward about how a change in philosophy, coupled with new technologies, can help us to create a healthcare system where fewer people remain undiagnosed for 32 years. Nothing is a given however, and we must continue to listen to and engage with those who have been fighting for change. We must continue to listen to the voices of people who have historically been ignored because they were expressing concerns about rare problems, not common ones. If you construct a healthcare system that is sufficiently nuanced, dynamic and personalized so as to be capable of identifying rare problems, it should necessarily be able to spot the common ones as well. This type of technology-driven system must also remain accountable to taxpayers, patients and other users. To fail to embed accountability at this stage of the re-design process would be to settle for a treatment when something more is clearly in sight.

You can learn more about Muckle-Wells Syndrome by visiting the Canadian CAPS Network at www.canadiancapsnetwork.com or the Autoinflammatory Alliance at www.autoinflammatory.org. You can also learn more about rare disorders more generally by visiting the Canadian Organization for Rare Disorders at www.raredisorders.ca

You can reach Ian Stedman here

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