Reflections of a Bumpy-Boned Individual
When I entered the orthopedist’s office complaining of knee pain, the last thing I expected to hear was the diagnosis of a rare, inherited bone disorder present in only ~0.002% of the population. Crazy, right? I thought so too.
When the words “multiple osteochondromas” and “bone tumors” left the doctor’s mouth, I couldn’t believe what I was hearing. I thought she would just tell me, “you pulled a muscle, apply some ice, and get over it.” Instead, I received a crash course in medical genetics and abnormal bone development. Of course, denial was my first reaction. I’ve had these all my life — and I haven’t noticed until 19 years of age? That’s total crap.
The doctor then explained my heightened risk for bone cancer and told me to get an MRI done as soon as possible. My eyes and ears weren’t working at this point. All that I heard was “blah, blah, blah, cancer, blah, blah.”
Then, the fear set in. Was I going to die? Frantically, in typical pre-med fashion, I scrambled to the medical journals for answers. However, after seeing the gnarly images of patients with crooked bones and reading descriptions of the dozens of corrective surgeries required for affected individuals in the past, I could not sleep peacefully for days. I scoured these publications for any glimpse of hope — but was only met with heartburn and anxiety.
In a nutshell, hereditary multiple osteochondromas (HMO) is caused by a mutation in any of the EXT-1, EXT-2, or EXT-3 tumor suppressor genes. Typically, it shows an autosomal dominant inheritance pattern — although some spontaneous mutation cases have been documented. Presumably, this disease should run in my family, but nobody in my household has complained of any bone “pains” thus far. HMO is characterized by the abnormal development of multiple bony outgrowths near the most active growth plates (typically near the ends of the long bones), which are then “capped” with cartilage. When these osteochondromas rub against surrounding tissues and nerves, it can cause chronic pain, worsen joint inflammation, and increase the risk for early-onset osteoarthritis. The most severe complication of HMO is malignant degeneration to chondrosarcoma, which is typically highlighted with a rapid outgrowth of cartilage on existing osteochondromas. Thankfully, there is only a small risk of malignancy over an individual’s lifetime, depending on the number and size of existing osteochondromas.
Soon after coming home from the orthopedist’s office, a sense of overwhelming anger and grief set in.
How could the doctor drop such life-changing news onto me within 15 minutes?
How am I going to tell my parents that one of them could have a disabling bone disease? Was mine a spontaneous mutation?
How am I supposed to have children if they’re at 50/50 risk for acquiring this terrible disorder?
Among all of these questions, I am still left without answers or a clear path ahead. Of course, neither of my parents wanted to believe something so terrible could happen to our family’s “strong blood,” but they have slowly come to understand. In the meantime, I will do my part to educate myself on this illness and plan ahead as best I can. What more can I do, anyway?
You always think these problems are for “somebody else” until they happen to you, and then you must scramble to make sense of them. How could I have gone all my life without noticing I had such a terrible disease? I have no idea. All that I know is that I have to remain vigilant, and I plan to dedicate my life and career to raising the body of clinical knowledge surrounding HMO and musculoskeletal diseases like it. To all the others out there suffering from a rare genetic disease: just know that you’ve earned yourself a lifelong friend and supporter. And I really mean it.
