In medical school, students routinely examine one another to practice clinical skills before applying them in real-world settings. So, when a classmate noticed small lumps in my neck, I made sure to get it checked, thinking there must be something wrong. However, the examination and imaging did not reveal anything concerning and I moved on.
Medical students are known to often diagnose themselves with the conditions they study. When I began learning about a rare disease called neurofibromatosis type 1 (NF1) – a genetic condition that can most notably cause neurofibromas, which are benign nerve tumours that grow throughout the body – and recognized something familiar in what I was reading, I was careful not to jump to conclusions. Over several years, however, I would worry about those lumps from time to time and have them rechecked. I registered as a new patient; when I saw my family physician, she carefully examined me and found decreased lung sounds on one side of my chest. She proceeded to order a chest X-ray that revealed a large tumour in my chest and a pleural effusion. Further investigations ultimately led to diagnosis of NF1.
I had grown up in Australia before moving to Canada and then returning for my studies. It was there, through an NF clinic in Sydney, that my diagnosis was formally confirmed. By then, the real question was no longer whether the diagnosis was NF1, but what would come next as surgery to remove the tumour was necessary. With family in Canada, I returned to Toronto.
The next few months were challenging. I navigated a major surgery while planning my wedding, grappling with the thought of whether I would come through it and what state I would be in. Thankfully, I had the best possible outcome from the surgery, and I was able to have my wedding as planned. I am grateful for the tremendous care provided by Michael Ko, Howard Ginsberg and St. Michael’s Hospital.
I was also connected to the Elisabeth Raab Neurofibromatosis Clinic at Toronto General Hospital, the first clinic in Canada for adults with neurofibromatosis. I was honoured to be asked to join the clinic by Vera Bril. I now see adults living with NF. I am fortunate to be part of a well-established, multidisciplinary team that understands and genuinely cares for patients living with this rare disease.
Sadly, though, I am aware that this access is not the reality for most Canadians living with NF1. Where you live can impact your access to specialized care, timely diagnosis and appropriate treatment. Only two provinces in Canada – Quebec and Ontario – have established centres and referral pathways. This geographic inequity means that some patients go without essential support, are forced to travel long distances or wait longer for critical appointments. Many patients continue to navigate this complex, unpredictable condition without access to the specialized care they need and deserve after childhood.
Not everyone’s journey with NF1 looks the same. A defining characteristic is its profound unpredictability. Two family members carrying the same pathogenic gene change can have entirely different experiences: one may have mild features and the other facing serious complications. That uncertainty is one of the hardest aspects for patients and families to live with.
Another challenging aspect is the limited amount of treatment options for both the disease and its complications. A common complication is the development of plexiform neurofibromas, complex tumours that can cause significant pain, disability and disfigurement. Depending on their size and infiltration into surrounding tissues, they may be deemed inoperable. For those with inoperable tumours, treatment options that are now available in Canada can offer meaningful benefit to significantly affected patients.
Having lived the experience of waiting for results, undergoing biopsies and sitting with an uncertain prognosis helps me bring something different to clinical practice. When patients describe certain kinds of pain or the anxiety of not knowing what a scan will show, I understand. The hope is that this offers some comfort and reassurance.
I’ve also heard first-hand the pervasive stigma that exists with NF1. The incorrect and misinformed assumptions that this disease is contagious; the retracting of a friendly handshake or the insults hurled toward individuals living with NF1 for being out in public. These are unfortunately common encounters for individuals with visible manifestations of NF1 that can cause isolation and anxiety.
To those living with NF1: you are not alone. Seek out specialized care wherever possible. Advocate for yourself if something does not feel right.
To family physicians and health-care providers: NF1 is more common than you may realize. Being aware of the common manifestations may lead to an earlier diagnosis and make an enormous difference.
To the community: awareness matters. NF1 is so widely misunderstood that bringing these stories into public view is essential. But awareness alone is not enough. For the rare disease community to truly move forward, stakeholders, governments and decision-makers must come together with urgency and intention to expand funding opportunities, invest in research and build the systemic infrastructure that patients and families deserve. This includes renewing and expanding the National Strategy for Drugs for Rare Diseases that is set to expire in March 2027.
No one navigating a complex, lifelong condition should have to do so without access to specialized care, coordinated support and meaningful treatment options. That vision is achievable, but only if we commit to making it a shared priority.
We owe it to patients everywhere to make sure their next chapter looks different.
