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Why Finding a New Doctor Can Be Unrealistic for Many Rare Disease Patients

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I was diagnosed with Pompe disease (a rare disease) two and a half years ago, and in that time I have heard some insensitive and sometimes just downright mean comments. I usually ignore them or use them as a teachable moment and a chance to spread awareness to a person or people who may not be familiar with what it’s like to live with a rare disease. But the one comment I hear most often which hurts me the most is “You should get a new doctor,” and it’s sometimes followed up with immediately or right away.

There are a few things that upset me about this comment. When I hear someone tell me to find a new doctor I take it personally. What I hear is “I am not a doctor, but I am going to give you medical advice anyway.” People seem to mistake me telling them about my illness or the chronic pain I experience as asking them for medical advice. It’s also an insult to me. I have a master’s degree in Social Work with almost 20 years of experience advocating for people in need. I think I can advocate for myself when necessary. I also hear “You really don’t take your health that seriously, let me tell you what you should do.” I am always open to discussing how I can improve my health or hearing about some new research I can share with my doctor, but unfortunately that’s usually not the approach.

I have a friend who I met last year; her daughter was diagnosed with fibromyalgia a few years ago. My friend and I have talked about her daughter’s struggles and the chronic pain she experiences. My friend and I have also talked about the helplessness she feels at not being able to relieve her daughter’s pain. Her daughter attends a boarding school, so my friend worries about her daughter being far away, as most mothers do.

I have wanted to suggest to my friend that she get a second opinion, because many Pompe patients were diagnosed with fibromyalgia before receiving a correct diagnosis. I have wanted to share my fear that many doctors diagnose fibromyalgia when they don’t have an answer, but then I realize that would be an insult to her and her daughter and I am not a doctor. To say these things to my friend would be for me to assume that my friend and her husband haven’t done everything within their power to find answers and treatment for their daughter. I am not a doctor and I have never met her daughter, so how do I know that fibromyalgia is not an accurate diagnosis?

I try to be supportive of my friend and when she asks me questions about my experience and what I have done to reach my own diagnosis I share with her. I don’t want to presume to know what is best for her daughter or that I know more than the doctor.

I know when someone tells me to find a new doctor they mean well and are looking out for my well-being; however, you must understand it can be very difficult to find a doctor who is knowledgeable in treating rare diseases. On average it takes up to seven years for a person with a rare disease to find an accurate diagnosis. This is because there are so few doctors who are aware of these diseases. Many doctors have read about some rare diseases but have never seen a patient with a rare disease.

On one occasion an urgent care doctor quickly backed out of the room when I told her I had Pompe disease. You would have thought I had something highly contagious. In many cases, rare disease patients have to teach their doctor about their illness, not because they want to, but because sometimes it’s the only choice they have. For a rare disease patient an appointment that would be routine for most people could last two hours because they have to spend time educating the doctor about their rare disease. Some rare disease patients travel long distances for treatment or to see a doctor. If you’re fortunate enough to live in or near a large city you may get lucky and find a doctor who has heard of your disease.

There have certainly been times where I knew it was time for me to find a new doctor. One of the first doctors I saw in my journey for a diagnosis told me women don’t get muscular dystrophy. I couldn’t believe a doctor would say something so reckless. I left his office and immediately called the Muscular Dystrophy Association who connected me to a doctor who was knowledgeable of muscular dystrophy. Two years later I was diagnosed with Pompe disease, a form of muscular dystrophy.

To tell me to find a new doctor is to assume I am not happy with my doctor and in some cases it’s unrealistic. I spent several months building the team of doctors I have, and I am not exaggerating – it is a team. With the help of my case manager and my geneticist I found doctors who were either knowledgeable of Pompe disease or willing to learn, and before moving overseas I spent almost five months finding doctors who could treat me during my time abroad, again with the help of my case manager and The Australian Pompe Association.

Having a doctor who is willing to learn about my disease means I can share my concerns about my treatment and new research information, so rather than find a new doctor, it’s easier for me to have a conversation with my doctor and provide him or her with some reading material. In addition, finding a new doctor means starting all over again. A new doctor does not mean he or she will be knowledgeable of my disease or he or she is willing to learn. My health is not something I take for granted and I value the relationships I have with my doctors. It is something I have worked hard at cultivating.

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Thinkstock photo via Wavebreakmedia Ltd.

Originally published: October 13, 2017
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