Musings of a Marfan Mom

What Would You Want Them to Know?


Today I have the opportunity to speak to medical students about Marfan syndrome. I’ve been able to do this once before, at another hospital in another state, when I was an undergraduate. My life has changed a lot since then, and some of the points I think are important to make have changed.

What would you want the next generation of doctors to know about your medical condition?

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  1. You already know this about me, but I want doctors to know that we all don’t have the body type. My children and I are not super long limbed or stereotypically marf-thin and I get incredulous looks every time I tell a new doctor that we have Marfan. Thank goodness I have the genetic test to prove it or I’m afraid we’d get passed over for treatment!

    Also, that because of the nature of our disorder, it is important that we are given details. Most of us want to know our exact aortic root measurement, our children’s z scores, our visual acuity, etc. Many doctors want to pass it off as “your aorta is enlarged” but that’s not enough for most Marfs.


  2. I love this! I speak every year to the incoming medical students at Emory and it’s a highlight of my year!

    One thing I always like to tell them to remember that when they’ve told the same news and dx and treatments to a family, to remember that we’re hearing it for the time. I also like them to remember that parents of kids like ours work with a team of people (I usually rattle off numbers and they’re always surprised) so the one visit I see them is usually on top of many others I’ve had for that child…be patient, help us stay calm, connect us with other families/resources.


  3. if they have the information, it is their duty to continue to spread awareness and help other families… they them to not be afraid to ask if someone has marfan’s if they feel that someone fits the dx criteria.. if it wasn’t for a doctor at the ER when ethan was there for pneumonia, it would probably have taken us much much longer to find out he had marfans. that doctor just walked by and noticed ethan’s long fingers and he asked if he had marfans… at that time we had no idea what it was… right away he ordered an echo and the dilation was right here… he was not even his regular doc.. just someone doing the rounds at the ER… he deserves a big thank you and I don’t even know his name!!! imagine all the other kids or adults walking around not knowing their aorta is dilated or that they have marfans… that is the biggest issue i think… once you know, you can take care of it…
    have fun and let us know how it goes!!!


  4. Strongly agree with Julia and Ashley above. As a group, we ARE more informed about our medical histories and want/need to know the specifics following tests. Re: physical characteristics, the very first time I met another Marf, she was barely 5 feet tall — but that was tall for her family — it’s all relative.

    Being 55 yrs myself, I am primarily interested in seeing how the Marfan body ages. I think it’s vital that more lung studies be done. How I could have lost 80% capacity and not have anyone be aware of that is insane. What other ways are our bodies deteriorating at an accelerated speed? if any.

    Thanksk Maya.


  5. As the mom of a child with Marfan’s, I have always hated it when doctors have referred to my daughter as “interesting” — when your child is ill, there is nothing interesting about it! (I’m guessing the same applies if you are the one who is ill as well.) It was the worst when she was a baby and so many of her specialists would ooh and aah over her like she was a specimen and not a little baby. When we moved when C was 18 months old, I wrote her pediatrician a letter of thanks for never once referring to her medical situation as “interesting” — he was the only one who never did.


  6. Oh, I love this, too! I also agree with the women who responded before.

    I know for me as an unaffected parent of a child with still unconfirmed Marfan and another child with a related CTD, I’m frustrated when doctors lose the “scientist” in them. I’d encourage these young doctors to always stay interested in their craft — always search deep and investigate! I’ve seen too many specialist forget that the body is one and all systems are connected. Work with other specialists to help the whole patient.

    Good luck, Maya! You’ll do fantastic as always! :)


  7. I’d like them to understand that when working with a Marf you are working as a team. Too often I have been talked down to by doctors who think they know everything about my condition because they attended a session on marfan in medical school. Many marfs are very proactive in their care, but when we tell you a specific dose of beta blockers is making it impossible to live it isn’t just us not understanding the risks. Their job is to work with us, to find a way for us to live a long, healthy and fulfilled life. So stop and think about the impact of telling a teen they can’t play sports anymore or should rethink a certain career. You may still need to explain the risks and advise against certain activities, but don’t declare them off limits like it is no big deal. And never, never talk down to a Marf unless you live this.


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