Musings of a Marfan Mom

What I Look For in a Doctor


I’ll admit: I’m picky about doctors. I want someone knowledgeable (or willing to get knowledgeable), friendly, and willing to explain their line of reasoning to me. I’m particularly picky about Marfan doctors. It’s a combo of my being very knowledgeable about Marfan, and that it can be a life-or-death issue.

A week and a half ago we saw the orthopedist again. The visit didn’t go well. Sure, J’s scoliosis was stable, which was great. But, the doctor showed that he doesn’t know Marfan as well as I thought he did, in part when he asked why we thought J has Marfan. (And let me clarify. This wasn’t a question out of curiosity, but very much a “I don’t believe he has it” sort of thing.) When I explained that I do, the doctor didn’t believe me and demanded that I show him my hands, before saying “well, I guess they are kind of long.” Never mind that J meets clinical criteria, has a positive genetic test, and we both have the “look.” This sort of behavior demeaning and offensive. It’s one thing to try to collect patient history. It’s another to treat us like we don’t know anything and to gawk at our bodies.

Furthermore, J is having ankle issues. Whether or not to use AFOs has been a conversation that we’ve had with his various physical therapists and orthopedic surgeons since he was 10 months old. He’s in DAFOs right now, but they’re not working so well anymore. He’s falling quite a bit. In fact, he broke his arm while we were at the Marfan conference (blog post about the conference coming soon) and his legs are full of scars and scabs. His amazing physical therapist and I want to try a hinged AFO, so I asked the ortho for a prescription. He refused and wouldn’t offer any other ideas.

On Friday, we saw a different orthopedist to take off J’s cast. Our pediatrician recommended this doctor. I expressed concern about asking him for a Rx, because orthopedists and physical therapists are firmly at odds on the use of AFOs, as I had just seen yet again. I wasn’t sure we’d get a fair shake, but the pediatrician assured me that we would.

So, when J got his cast off Friday, I brought up AFOs. The doctor wasn’t interested in doing an exam, or in J’s history. Instead, he made a passionate argument as to why AFOs are never appropriate (including with some incorrect info about Marfan). But, he agreed to talk on the phone with J’s physical therapist.

I filled her in on the appointment, and waited to hear back. I worried that it was going to look to his pediatrician like I was chasing a treatment/doctor shopping for the answer I want. Anyone else ever feel that way?

But then I heard back. And what I heard back changed how I will address this with our pediatrician. J’s physical therapist told me that the doctor declared that J’s ankles are a “life sucks” situation with no way to help. She told me he said that if a solution existed, “orthopedists would have found it already.”

What if Dr. Daniel Hale Williams had said “if a way to operate on the heart existed, a surgeon would have thought of it already?

What if Drs. Ross or David had said “If a solution to a mechanical valve existed, cardiac surgeons would have discovered it already?

What if Dr. Hal Dietz had said “If a solution to slowing aortic enlargement for people who can’t take beta blockers existed, researchers would have found it already?

But they didn’t, and Dr. Williams performed the first open heart surgery, Drs. Ross and David created aortic valve sparing procedures, and Dr. Dietz discovered losartan as a potential treatment for aortic enlargement (which a team of researchers later showed to be viable).

If doctors didn’t look beyond the present to see the possible, people with Marfan syndrome would still be looking at a life expectancy of around 40 years old. Instead, we have an average life expectancy. So many “impossibles” are now standard care, and I know we’re on the precipice of more discoveries. My son does not have time to waste on doctors who see limits.

There may not be an easy answer now, but that’s not a reason to refuse to try something. That’s not a reason to decide to give up completely.

So no, I’m not looking for doctors to be a “yes man.” I’m looking for doctors to be believers: believers in themselves, believers in my son, and believers in what can be accomplished when we work together and dream a little.


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  1. what about going to see a physical medicine and rehab doc? They believe in AFOs! I avoid ortho surgeons at all costs and see my PMR guy for all that stuff. I’m surprised your PT hasn’t suggested it- at the children’s hospital where I get all my therapy they work really closely together and I got my most recent script for afos without even seeing the doc- my pt just asked him for it.


    marfmom Reply:

    Actually we have an appointment with one now! Our PT just recommended one. Hoping that he will help us out!


  2. Ugh…I feel ya, Mama. I have been met with the same type of response. I want doctors who have that scientific/investigative mentality. We have seen too many that don’t.


  3. You said you want doctors to be “believers”; I agree but I think you forgot something. You are also looking for doctors to not be a$$holes! Sorry for the language, but in this case, it fits perfectly. Maybe he felt threatened because a lay person, (and to make things worse, a woman) dared to question him!

    Is there anyone who can help? Is there a PAB member you could ask for help? Maybe the PAB member could back up your decision/analysis with a letter. Maybe this would get you the care you think is appropriate for J and also teach that doc about what is appropriate care for folks with Marfan. I’m sorry you had to deal with this guy. I really hope things get better and you get what J needs!


    marfmom Reply:

    Haha yes, that is a very good criteria, too!


  4. Ryan wears DAFO and has for almost 2 years. He still falls alot to. His PT explained to me that the braces will not fix his ankles but support him until he gets stronger. He may always need son kind of support. Lots of therapy and play. She almost put him in the brace just below the knee but she feels the less support we give him the better so he still has to use most of his muscles. He hyperextens his knees so much. He does have lots of knee and leg pain. Ryan’s orthopedic Dr. Told me that I probably know more about Marfans than she does. Talk about a weird feeling to a mom with a new diagnosis,I also want a great doctor but can’t afford to travel. She has been kind and gets him whatever he needs. I can’t believe you were treated this way. Hope you can get another doctor that cares and treats you right,and gets J what he needs. Your a great mom and support for moms like me. Take care


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