Ack, our doctor’s retiring! Or, why TOP physicians are vital for rare diseases…

Posted by Karen - October 14th, 2018

Twice recently my daughter has had a physician retire on her. The NERVE, how dare they! Don’t they know we need them?? All joking aside, heaving a really good doctor is so very, very important for people with rare diseases. We know from experience, since my 13-year old daughter has fibrodysplasia ossificans progressiva (FOP), a disorder which affects about 1,000 people known to medical science.

My Miranda, age 13

My Miranda, age 13

We have been extremely fortunate to have 2 local treating physicians, our family doctor and our pediatrician, who were really just the best. In the case of rare diseases, being a “good” doctor has meaning above and beyond what typical people need. In no particular order, here are some characteristics which I would say mark the best doctors for folks with rare diseases…

– A calm demeanor, such that the doctor is unlikely to be “weirded out” by unusual things.

– An absolute willingness to admit that the doctor has little or no experience with the rare disease in question, and along with this, a corresponding willingness to listen to what the patient or their family wishes and give it serious consideration.

– The ability to “think outside the box” and be open to prescribing medications in atypical or off-label ways, or to make referrals to specialists where warranted.

In fact, I could sum all of this up by observing that doctors for people with rare disease are presented with stuff not often seen (because, you know, rare), and the ability to react appropriately and helpfully in that context can make a realĀ and significant difference to the person’s medical experience.

So anyway, as I noted, both our family doctor and our pediatrician perfectly fit the bill for Miranda’s rare disease. In fact, we didn’t know how good we had it.

We learned the truth when we switched family doctors… What were we, crazy? No, there was actually a method to our madness. Our doctor, great as she was, was in her mid-60s, and I knew retirement must be in the near future. Plus it didn’t help that her office was almost an hour’s drive from our house. We changed doctors because a couple of years ago, a new medical clinic opened up much, much closer to where we live, and lo and behold, they were taking new patients (an extremely rare thing where we live). Given this situation, I struck while the iron was hot and moved our whole family to the new clinic. Though I was sad to leave our wonderful family doctor behind, I figured it would be the only chance we’d get in a while, and better to move now then wait till our doctor actually retired (OK, so she hadn’t retired yet, but the signs were there that it was imminent). The new doctor started out OK. She seemed to be willing to treat Miranda, even with her FOP. But then a real test of her mettle came up – we needed a refill of a couple of medications, and the doses and/or contexts for same were way outside what GPs usually see. I regret to say that the appointment didn’t go well. The doctor was flusteredĀ and extremely reluctant to refill the medications (though her predecessor had done it without question). She finally agreed to do it, but only after arguing with me, and she only prescribed a very small quantity until we could get in to see the pediatrician. To top it off, she got the dosage of one of the meds wrong, despite me sticking a Treatment Guide to FOP written by top experts in the field right under her nose. When that happened, I bitterly regretted taking on this new doctor. I also decided then and there that Miranda was going to see this physician only when absolutely necessary. We so didn’t need this garbage.

(Weird post-script to this story… About 6 months after this bad experience, the clinic announced that the doctor was leaving the clinic. My husband and son’s doctor with the same clinic agreed to take on me and Miranda. The jury’s still out on how he’ll be with Miranda’s FOP, as he hasn’t been tested yet.)

Given this experience with the GP, it was lucky for us that we had the best pediatrician in the frickin’ WORLD. He was the guy who got us to Miranda’s diagnosis, and he’s seen her 3 or 4 times a year since then (11 years+). He would always ask me what was new in the world of FOP treatment, and he was totally and completely willing to go in unusual directions. We just loved him. However, I guess all good things really must come to an end. A few months ago, at one of our visits, he told us he was moving toward retirement and he suggested we switch to a younger pediatrician in his office. Oh, how my heart constricted with this news… I was absolutely dreading seeing the new doctor, with whom we set an introductory appointment for a few months later. What if she was like the new GP? I so very, very much did not want to have to argue with her about Miranda’s prescriptions and medical treatment.

The big day finally arrived. With my heart in my throat, we went in to meet the new pediatrician. And… It was a wonderful experience. It went so well! I was very impressed with this doctor, and she answered all my questions the “right way”. PHHHHHEEEEWWWWW. The relief was indescribable. I think this doctor is going to work out swimmingly. (I’m going to go out on a limb here and say that I bet our previous beloved pediatrician carefully considered our needs and referred us to a great choice in their office. Even in retirement, he made sure Miranda was taken care of. <3)

At the end of the day, I guess our record for front line treating physicians is now 3 and 1. It could be worse. I guess we’ve been pretty lucky – we’ve had some great rare disease care.


One Response to “Ack, our doctor’s retiring! Or, why TOP physicians are vital for rare diseases…”

  1. Marilyn Hair says:

    Change sucks. I had several experiences with doctors when I wrote them off, then things improved. Sometimes it was my own attitude. Don’t give up after one bad encounter. Over the years, I learned how to be a better parent advocate.I tried not to get into adversarial relationships and many times it worked. You can also ask Miranda’s doctor to contact one of the FOP experts.

    When it came to transition to adult health care between age 18-22, I helped Sarah transition to 8 new specialists in adult medicine. Later, I wrote my master’s thesis on Adolescent Health Transition. I would have been a better advocate, and let her speak more for herself, if I’d done the research before I helped Sarah transition.

    I also hope the system in Canada is better than in the US.

    Best wishes, Karen.

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