Learning that I have a rare genetic condition changed how I saw myself as a physician, woman, and mother.
This first-person account is the experience of Bethany Oeming, who lives in Calgary. For more information on CBC’s first-person stories, please visit FAQ,
My body often initiates the conversation.
For most of my life, I have fielded comments and questions from well-intentioned people about my muscularity. The perception is always the same – that I train for hours or follow a strict diet. But the truth is not discipline or athleticism. It is called a rare disease Familial Partial Lipodystrophy (FPLD),
I was 36 and pregnant with my second daughter when I was diagnosed.
It was a typical day in the operating room where I work as an anesthesiologist. One surgeon noted the challenges of reconstructive surgery in patients with lipodystrophy. This word was unfamiliar. That evening, out of curiosity, I looked it up – and my stomach sank. The details reflect my body exactly.
As a millennial therapist, I did what came naturally: I went down an internet rabbit hole. Then, mustering both courage and hope, I emailed a leading Canadian researcher on the topic.
I got a reply the next day: My story seemed solid. 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 assumed was natural athleticism has now been redefined as a lifelong medical disorder.
Familial partial lipodystrophy is considered an extremely rare condition. Estimated prevalence of 2.84 cases per million peopleIt has many subtypes and a wide range of presentations, which is why it is often misunderstood,
The type I have involves the loss of subcutaneous fat in the arms and legs from around puberty. This makes the organs look more muscular and toned while fat remains the same or accumulates in areas such as the stomach, face and neck. Although these changes are visible outside, their more serious effects are inside the body. There is a higher 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.
Medical facts were easier to assimilate than psychological facts. The diagnosis upended an identity I had carried with me my entire life – that I was naturally athletic. A hockey player. Someone who has a naturally strong body.
That story was my inspiration, a way to make peace with a body that attracted attention I never asked for. Then came the medical diagnosis and my story collapsed. My body was no longer a symbol of nature’s strangeness or strength, but the visible expression of a rare disease.
Embarrassment was tempered by relief at the explanation that I had not seen it before – disbelief that I had studied and practiced medicine for over a decade without making the connection.
Yet I felt grateful that I finally found the language to describe what sets me apart.
Learning this while pregnant was unsettling. It explained why my gestational diabetes was unusually difficult to control, but it also raised troubling questions. Was this mutation inherited or acquired? Did I pass it on to my daughter or my older child? What health concerns may I face in the coming years?
I pored over family photos looking for clues. There are some metabolic similarities to my relatives, but my appearance is different – more exaggerated, more distinctive. The uncertainty weighed heavy, a reminder that my genes don’t end with me.
The concern for my daughters brought me back to my adolescence – journal entries full of confusion and introspection, written by a young woman trying to reconcile a body that didn’t fit. A body that tells the wrong story. I didn’t know the word “lipodystrophy” yet and I couldn’t explain what I felt. The tension between how I looked and how I felt stayed with me into adulthood.
Looking back, I think a big part of what attracted me to a career in medicine was my desire to understand the human body, including my own. Physiology and precision mattered, but so did the opportunity to care for people in vulnerable moments.
Receiving a rare diagnosis has made me a more empathetic physician. I approach patients’ frustrations differently. I listen more carefully to the story beneath the symptoms. I have seen firsthand that a body can look “fit” and still suffer from serious diseases, just as someone in a larger body can be completely healthy.
I’ve learned that body-related comments are rarely neutral. Even well-intentioned comments about weight, fitness or postpartum body can cause harm. I have cared for cancer patients who were praised for “looking amazing” because they lost weight, not realizing that this loss was unintentional, catastrophic, and linked to their disease.
When I returned to work after maternity leave, there were a lot of comments about how quickly I “bounced back.” These comments didn’t reflect the reality of my newly diagnosed condition and left me with the suffocating choice of whether to explain (I don’t normally store fat!) or simply smile and brush it off.
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 with a rare disease wait yearsFor answers, sometimes decades. Many people never find them. My path toward clarity was fast, not because the system worked well, but because I knew how to navigate it as a physician and get a quick diagnosis from one doctor to another as a professional courtesy. That awareness is humbling.
My body has been misunderstood my entire life—as discipline, as ego, as fate.
The truth is even messier: It’s a rare disease, a twist of genetics and a lesson in humility. I am 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 the answers fall short. My body is not a wrong story. This is real. And I’m finally learning to tell it.
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