Why medical professionals need to familiarize themselves with SMA
Finding a good primary doctor can be difficult with a rare disease
Growing up, my pediatrician was more than a doctor; she was part of the family. She supported me through all of life’s transitions, from puberty and menstruation to my transition to adult care when I turned 20. She even attended my high school graduation party. She knew all of my specialists by name and is quite literally a reason I’m alive today. If it weren’t for her, I would’ve died from pneumonia decades ago.
As a kid, I didn’t realize how fortunate I was. I thought all doctors were knowledgeable about rare diseases, just as I thought all doctors were protective of those under their care. But it turns out that, as much as I hated my pediatrician at the time (I associated all medical professionals with pain and suffering, so it wasn’t nearly as personal as I made it out to be), I was extraordinarily lucky.
My pediatrician wasn’t a specialist. She was your everyday, run-of-the-mill family doctor. She had no prior experience with SMA and probably learned everything she knew from whatever substituted as a search engine in the late 1990s. It would’ve been easy for her to take a hands-off approach to my case. Instead, she committed to advocating for me every step of the way. She was never more than a phone call away.
She saw every symptom as dangerous and wasn’t afraid to admit me to our local children’s hospital if she thought I was showing signs of a respiratory infection. At the time, I took her vigilance for granted. Then I grew up and saw firsthand that my extraordinary care team was just that: extraordinary. Not everyone had a pulmonologist who cared for one of the oldest SMA patients in the country, as mine did with another patient. And not everyone had a primary care provider (PCP) who learned everything she could about a rare disease.
The search for a good PCP
Transitioning to adult care was difficult. My pediatrician hand-picked her replacement and tried to make the process as smooth as possible, but I still struggled. My new PCP wasn’t nearly as familiar with SMA, and also just didn’t know me as a person and a patient. An allergic reaction to an antibiotic she prescribed eventually had me looking for a different provider at a completely different clinic.
I spent the next several years switching from one PCP to another. I finally found someone I liked, only for her to disappear with no indication as to whether she’d return to the profession. Then there were the negative experiences I had, from a male doctor dismissing my very real pain to a neurologist having no clue what SMA was.
It took me years to find a PCP I was comfortable seeing on a regular basis. She isn’t familiar with SMA but is willing to learn — and, more importantly, isn’t afraid to acknowledge when she’s out of her depth. I appreciate that in a medical professional, but I’m still frustrated, more by the industry at large than with one person in particular.
Rare diseases aren’t just rare. They’re finicky and unique and, for the most part, untreatable. I don’t expect medical professionals to be familiar with every rare disease out there. But there’s a difference between having preexisting knowledge of a condition and being willing to learn as you go.
My pediatrician is a perfect example of how a provider’s attitude can change everything. She wasn’t familiar with SMA, but she was determined to give me the best care possible and worked with my team of specialists to cover her bases. She wasn’t an expert; she didn’t pretend to be. But she was willing to go above and beyond, and in so doing, saved my life on numerous occasions.
I’m not asking for the impossible. In fact, I’m asking for the bare minimum: for medical professionals to treat rare disease patients with care, dignity, and, above all, humility.
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Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.
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