The reality of doctors and rare diseases

Posted by Karen - October 9th, 2016

Doctors… We all need them, but when you’re coping with a rare disease such as my daughter’s, fibrodysplasia ossificans progressiva, the experience can be by turns incredibly great and extremely frustrating. Some doctors are rock solid and terrific, while others make you want to rip your hair out at the roots.

Miranda in San Fran

There are no doctors in this photo, but… This was Miranda in San Francisco, where she was meeting with a really top notch physician.

Let’s start in the pre-diagnosis phase. So, you have a child, and the child has some strange, seemingly inexplicable medical symptoms. Chances are your child will be examined by a number of physicians before you find one who figures out what’s going on. I’ll start with what you will likely experience with one of the “bad” doctors.

The bad doctors seem to live and die by the old medical adage that “when you hear hoofbeats, think of horses and not zebras”. Now, I don’t take issue with that statement as one which is generally sensible – as a starting point. The problem is that a bad doctor will do a few tests, and eliminate 30 or 40 common diseases faced by kids (and keep in mind that there are thousands of disorders which effect humans), and then declare that they didn’t find anything. Now – at this point, the next step should be to say, okay, we’ve eliminated the most obvious diseases, and now let’s dig a little deeper and look at other possibilities. They CAN do this; they don’t have to just give up. The bad doctor, however, doesn’t do that. The bad doctor simply loses interest and tells you they can’t help any further. “Hey, I didn’t find any horses, so I don’t know what these hoofbeats are and my job here is done.”

The worst doctors, though, will take it a step further and either hint to you, or maybe even tell you directly, that they suspect you are making stuff up to get attention (as in Munchausen syndrome by proxy). This literally happened to me when I was trying to get my daughter Miranda diagnosed in early 2007, when she was just past her second birthday. The paediatrician we were seeing had listened to my – admittedly bizarre – tale of lumps on my toddler’s head which came and went, and even shifted in location. His fruitless search eliminated leukaemia and blood clotting disorders, and then he lost interest. At our last appointment with this doctor, I continued to press for further medical investigation, and he turned to his medical student and snidely said, “Mother tells of swellings on the head, which come and go.” And then he ROLLED HIS EYES. My blood still boils when I think of this. I was an articulate woman with two university degrees, who works in a respected profession, and probably more importantly, I was an experienced mother of a healthy older child – but he implied I was making shit up! Needless to say we ditched that guy post haste and got a referral to a new paediatrician. (Aside – after we got the correct diagnosis, I wrote a letter to the first paediatrician and told him about it, pointing out the specific ways in which my child’s unusual symptoms were textbook signs of the disease. I took bittersweet satisfaction in educating him. Didn’t hear back from him, though. Hopefully he was too embarrassed.)

Turning now to the good doctors – our next paediatrician was a perfect example of this species. We saw him and he examined Miranda, and told me he believed there was definitely something going on. He referred my girl promptly to our children’s hospital, where he arranged for doctors from a number of different specialties to assess her, all in the same day (and that must have taken some impressive coordinating, when I think of it). Later that day, he sat down with the various specialists and they brainstormed about what they had seen. Before the end of the day, they had figured it out and come up with a working diagnosis, which later proved to be correct. I will be eternally grateful to him for thinking about zebras, rather than just stopping at horses.

Of course, you can see bad doctors and good ones even after a correct diagnosis. I’ll tell you about some bad ones whom Miranda and I encountered over the years. The first one which really stands out in my mind was a specialist who seemed to forget entirely that she was treating an actual, you know, person. We went to her for an assessment of an issue when Miranda was about 5 years old, and she took that opportunity to educate her medical students all about FOP. Of course it’s good that she was trying to educate them, but did she have to emphasize, right in front of my intelligent and carefully listening child, all of the worst possible things which could happen with this disease? GAH. I could have strangled her; talk about insensitive. Another specialist was a bald-faced liar. The guy looked at us, and pompously told me that “in my experience with FOP in this hospital, we see that (blah blah blah).” First, his information was completely inaccurate and wrong. Second, I know full well that he had seen at most maybe one patient with FOP before Miranda – for a long time there had been only 2 of them in our province, and the fact his information was flat wrong suggested that he had probably never treated the other patient either. Nice. Why lie? I’m honestly just shaking my head.

Good physicians either KNOW STUFF about what they’re purporting to treat, or if they don’t know, they admit it. The paediatrician who got Miranda her diagnosis ended up becoming her long-term doctor, and he has been wonderful over the years. I love that I tell him about a potential treatment or therapy, and his response is generally, “You know more about this than I do, so I’m certainly willing to consider it. Let’s look at it further.” YES! This is precisely what I want. We don’t always go through with everything I bring up, but he’s always open to looking at it, and more often than not he’ll go out on a limb and try something new. He is also open-minded and always willing to learn things about Miranda’s disorder. From a doctor who doesn’t specialize in FOP, I couldn’t ask for more.

We’ve also had the great fortune to meet with physicians – and a couple of dentists – who actually do specialize in FOP (or at least are very experienced with it). Let me tell you, when you’re used to dealing with doctor after doctor who you yourself have to educate, this feels like a freaking miracle. When this happens, you feel like you’re in the presence of an actual god. It still amazes me that there are specialists out there who choose to focus on diseases which may affect only a few hundred or few thousand people. I am eternally grateful for such doctors.

CFOPN Mir and doctors edited 31-05-2013 9-22-44 AM

The physicians in this photo with me and Miranda? Some of the best ever. From the left, Dr. Grunwald (anaesthesiology), Dr. Kaplan (FOP researcher), and Dr. Pignolo (ditto).

Got any good rare disease doctor stories, positive or negative? Leave a comment. I’d love to read what you’ve experienced.

3 Responses to “The reality of doctors and rare diseases”

  1. says:

    Oh yes !! Pre-diagnosis we saw a cranio facial expert who was certain we should just open her up and take some biopsies. Ack! His sure-ness when everyone else was so unsure made me run out of there! We ended up with an oncologist who knew it wasn’t cancer but was humble enough to know he didn’t know what it was, and brought in a similar parade of experts and sent us to similarly minded hematologist, who sent us to a rheumatologist, who finally diagnosed her.

    In hindsight the best thing I ever did as a parent was take pictures of Sienna’s lumps and bumps and keep them in a PowerPoint presentation by date. So everyone had to believe me when I said “her shoulder was the size of a grapefruit last week” because I had proof!!!

    Since then we’ve been lucky enough to have all good doctors and a good dentist willing to learn!

  2. Jelena Milosevic says:

    As far as I know, three persons with FOP live in Serbia. All three of us used to go to the same doctor in the period of 3-4 years (1990s). She didn’t tell any of us that she had more patients with FOP. We are now connected thanks to the Internet and IFOPA. Can you believe it?

  3. Lara says:

    Good doctors? We have two amazing doctors on his team now that have called me at home to discuss results and really, truly listen to and value my input – one of these is of course Dr. Fred Kaplan, the other is his CHEO Complex Care doctor.

    Bad doctors? The biggie for us was the ortho dr that first suggested my 16 month old wasn’t wanting to put weight on his leg because he was lazy and didn’t want to walk. Later he was willing to go ahead with surgery to remove the bone and assured me that bone making condition associated with malformed bug toes wasn’t a concern but couldn’t explain why. Not a day goes by that I’m not grateful that I trusted my instincts and insisted on a genetics follow up before surgery!!!

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