This First Person article is the experience of Bethany Oeming, who lives in Calgary. For more information about CBC’s First Person stories, please see the FAQ.
My body is often a conversation starter.
For most of my life, I’ve fielded comments and questions from well-intentioned people about my muscularity. The assumption is always the same — that I spend hours training or follow a strict diet. But the truth isn’t discipline or athleticism. It’s a rare disease called familial partial lipodystrophy (FPLD).
I was 36 and pregnant with my second daughter when I received my diagnosis.
It was an ordinary day in the operating room where I work as an anesthesiologist. A surgeon mentioned the challenges of reconstructive surgery in patients with lipodystrophy. The word was unfamiliar. That evening, out of curiosity, I looked it up — and my stomach sank. The descriptions mirrored my body exactly.
As a millennial physician, I did what came next naturally: I went down an internet rabbit hole. Then, summoning both courage and hope, I emailed a leading Canadian researcher on the subject.
I received a reply the next day: my story sounded convincing. That researcher sent a DNA kit in the mail, and three weeks later, the results confirmed it — I carried the R482Q mutation in the LMNA gene. What I had assumed was natural athleticism was now reframed as a lifelong medical disorder.
Familial partial lipodystrophy is considered an ultra-rare condition, with an estimated prevalence of 2.84 cases per million people. There are multiple subtypes and a wide range of presentations, which is why it’s often misunderstood.
With the type I have, starting around puberty there is a loss of subcutaneous fat in the arms and legs. This makes the limbs look more muscular and defined while fat tends to stay the same or build up in areas like the abdomen, face and neck. Although these changes are visible on the outside, the more serious effects happen inside the body. There is a high risk of developing insulin resistance or diabetes, early heart disease and abnormal cholesterol levels. Treatment focuses on careful monitoring, medications and lifestyle measures to reduce cardiovascular complications.
The medical facts were easier to absorb than the psychological ones. The diagnosis undid an identity I’d carried all my life — that I was inherently athletic. A hockey player. Someone whose body was naturally strong.
That story was my anchor, a way to make peace with a physique that drew attention I never asked for. Then came the medical diagnosis, and my story crumbled. My body was no longer a quirk of nature or a badge of strength, but the visible expression of a rare disease.
Relief at having an explanation tangled with shame that I hadn’t seen it sooner — disbelief that I’d studied and practised medicine for more than a decade without making the connection.
Yet I also felt gratitude for finally having language to describe what set me apart.
Learning this while pregnant was destabilizing. It explained why my gestational diabetes was unusually difficult to control, but raised unsettling questions. Was this mutation inherited or acquired? Had I passed it to my daughter or my older child? What health concerns might I face in the coming years?
I poured over family photographs, searching for clues. My relatives share some metabolic similarities, but my appearance is distinct — more exaggerated, more conspicuous. The uncertainty weighed heavily, a reminder that my genes do not end with me.
Concern for my daughters brought me back to my own adolescence — to journal entries filled with confusion and self-scrutiny, written by a young woman trying to reconcile a body that didn’t fit in. A body that told the wrong story. I didn’t yet know the word “lipodystrophy,” and I couldn’t articulate what felt off. That tension between how I looked and how I felt stayed with me into adulthood.
Looking back, I think a large part of what drew me to a career in medicine was a desire to understand the human body, including my own. The physiology and precision mattered, but so did the chance to care for people in vulnerable moments.
Receiving a rare diagnosis has made me a more empathetic physician. I sit differently with patients’ frustrations. I listen more closely for the story beneath the symptoms. I’ve seen first-hand that a body can look “fit” and still harbour serious disease just as someone in a larger body can be entirely healthy.
I’ve learned that body-related remarks are rarely neutral. Even well-meaning comments about weight, fitness or postpartum bodies can cause harm. I’ve cared for cancer patients who were praised for “looking amazing” because they’d lost weight, not realizing the loss was unintentional, frightening and tied to their illness.
When I returned to work after maternity leave, there were so many remarks on how quickly I had “bounced back.” These comments missed the reality of my newly diagnosed condition and left me with the suffocating choice of whether to explain (I don’t store fat normally!) or just smile and deflect.
My experience has also sharpened my awareness of privilege. Within weeks of my diagnosis, I had access to genetic testing, specialists and a care plan.
Most Canadians living with a rare disease wait years, sometimes decades, for answers. Many never find them. My path to clarity was fast not because the system worked well, but because I knew how to navigate it as a physician and got a quick diagnosis as a professional courtesy from one doctor to another. That awareness is humbling.
My body has been misread all my life — as discipline, as vanity, as luck.
The truth is messier: it’s a rare disease, a twist of genetics and a lesson in humility. I’m strong for many reasons that have nothing to do with how I look — in the operating room, in motherhood, in choosing to keep moving forward when answers are few. My body isn’t the wrong story. It’s the real one. And I’m finally learning how to tell it.
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