Picture of Elsie to follow - blogger won't let me upload pictures - AGAIN!
One of the challenges of having an ultra-rare orphan disease is encountering new doctors who know nothing about your disease, about you, and often are completely befuddled about how to react when you show up in their exam room for the first time.
Last night a very good HPS friend, Elsie, called to tell me about her recent trip to a brand new doctor. “He didn’t believe me when I told him I had Hermansky-Pudlak Syndrome,” she said still somewhat irritated.
“Your kidding,” I answered.
What makes this even more shocking is that Elsie is the queen of HPS outreach. She’s like an evangelist sharing religion because of her drive to make people aware of our disease and get people properly diagnosed. Elsie understands better than anyone else why it’s so important. Last year Elsie’s brother died of the pulmonary fibrosis of HPS and Elsie’s lungs are also affected by fibrosis. She’s a woman with motivation.
HPS disproportionally affects people of Puerto Rican ancestry, and Elsie lives in an area with the third largest Puerto Rican population outside of the island itself. As a result, unlike me in Kansas City, Elsie actually finds other people affected by HPS who often aren’t even aware of it. She’s tenacious. Elsie often walks up to complete strangers in her neighborhood who appear to have albinism, befriends them, enquires about whether they have albinism and probes to find out if they’re aware of HPS. She’s done it in Wal-Mart, in the grocery store, in the mall etc. As a result, Elsie’s formed an albinism/HPS support group in her area and is responsible for several families becoming involved with the research at the National Institutes of Health.
Elsie’s spoken with, and shared our brochure with vocational rehabilitation staff; those that work with organizations benefiting the visually impaired; community service groups such as the Lions Club and with pretty much any medical professional she meets.
So when Elsie told me the doctor didn’t believe that she had HPS, I was confident it wasn’t because she hadn’t taken along our brochure and supporting documentation. Elsie isn’t the sort of patient that’s uneducated about her diagnosis and might come across as wishy-washy.
I’m sure many physicians don’t appreciate the patient perspective during the first encounter between a new patient and doctor. A patient with a rare diagnosis often has endured years of mysterious medical traumas or symptoms, misdiagnosis and often the patient has gone to great lengths to push the medical establishment to find the right answers. After all that, to have someone question whether you know what you’re talking about is, well, enough to shut down any actual communication between patient and doctor.
HPS has put Elsie through a lot – the loss of her brother, the reality of a diagnosis like pulmonary fibrosis and numerous trips to the National Institutes of Health to participate in research.
So when some yutz doctor says to Elsie, “I’m not asking you for a diagnosis, I’m asking you for your symptoms.” and acts as though Elsie couldn’t possibly know what she’s taking about – well to say such an experience is insulting, upsetting and scary for a patient is an understatement.
For starters, many of us with rare disorders are very sensitive to doctors’ attitudes. Often we’ve been treated like hypochondriacs. Sometimes we’ve experienced a doctor that reacts to our questioning as though we lack the intelligence to understand what is wrong with us or we’d quit pestering and questioning the all-knowing doctor. At the same time, we fear one day finding ourselves in need of emergency treatment, only to be at the mercy of someone who doesn’t understand us or our needs – no matter what precautions we may have taken with medic alert bracelets etc.
As for Elsie’s visit – we had a good laugh. Apparently this new doctor was very intrigued with her eyes. “Do you know you have nystagmus?” he asked her. Really? You think? As if no one in 40 plus years would have noticed.
Sometimes you just have to laugh. And yes, Elsie’s search for a new doctor will continue.
One of the challenges of having an ultra-rare orphan disease is encountering new doctors who know nothing about your disease, about you, and often are completely befuddled about how to react when you show up in their exam room for the first time.
Last night a very good HPS friend, Elsie, called to tell me about her recent trip to a brand new doctor. “He didn’t believe me when I told him I had Hermansky-Pudlak Syndrome,” she said still somewhat irritated.
“Your kidding,” I answered.
What makes this even more shocking is that Elsie is the queen of HPS outreach. She’s like an evangelist sharing religion because of her drive to make people aware of our disease and get people properly diagnosed. Elsie understands better than anyone else why it’s so important. Last year Elsie’s brother died of the pulmonary fibrosis of HPS and Elsie’s lungs are also affected by fibrosis. She’s a woman with motivation.
HPS disproportionally affects people of Puerto Rican ancestry, and Elsie lives in an area with the third largest Puerto Rican population outside of the island itself. As a result, unlike me in Kansas City, Elsie actually finds other people affected by HPS who often aren’t even aware of it. She’s tenacious. Elsie often walks up to complete strangers in her neighborhood who appear to have albinism, befriends them, enquires about whether they have albinism and probes to find out if they’re aware of HPS. She’s done it in Wal-Mart, in the grocery store, in the mall etc. As a result, Elsie’s formed an albinism/HPS support group in her area and is responsible for several families becoming involved with the research at the National Institutes of Health.
Elsie’s spoken with, and shared our brochure with vocational rehabilitation staff; those that work with organizations benefiting the visually impaired; community service groups such as the Lions Club and with pretty much any medical professional she meets.
So when Elsie told me the doctor didn’t believe that she had HPS, I was confident it wasn’t because she hadn’t taken along our brochure and supporting documentation. Elsie isn’t the sort of patient that’s uneducated about her diagnosis and might come across as wishy-washy.
I’m sure many physicians don’t appreciate the patient perspective during the first encounter between a new patient and doctor. A patient with a rare diagnosis often has endured years of mysterious medical traumas or symptoms, misdiagnosis and often the patient has gone to great lengths to push the medical establishment to find the right answers. After all that, to have someone question whether you know what you’re talking about is, well, enough to shut down any actual communication between patient and doctor.
HPS has put Elsie through a lot – the loss of her brother, the reality of a diagnosis like pulmonary fibrosis and numerous trips to the National Institutes of Health to participate in research.
So when some yutz doctor says to Elsie, “I’m not asking you for a diagnosis, I’m asking you for your symptoms.” and acts as though Elsie couldn’t possibly know what she’s taking about – well to say such an experience is insulting, upsetting and scary for a patient is an understatement.
For starters, many of us with rare disorders are very sensitive to doctors’ attitudes. Often we’ve been treated like hypochondriacs. Sometimes we’ve experienced a doctor that reacts to our questioning as though we lack the intelligence to understand what is wrong with us or we’d quit pestering and questioning the all-knowing doctor. At the same time, we fear one day finding ourselves in need of emergency treatment, only to be at the mercy of someone who doesn’t understand us or our needs – no matter what precautions we may have taken with medic alert bracelets etc.
As for Elsie’s visit – we had a good laugh. Apparently this new doctor was very intrigued with her eyes. “Do you know you have nystagmus?” he asked her. Really? You think? As if no one in 40 plus years would have noticed.
Sometimes you just have to laugh. And yes, Elsie’s search for a new doctor will continue.
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