Musings of a Marfan Mom

Meet the Family

Hi! Thanks for coming by our blog! You can find out more about us below.

Maya: I’m a 30 year old outspoken Latina mother of two, and I have Marfan syndrome. I have a Masters in Public Health, with my interests being patient advocacy (especially patients with chronic illness) and maternal and child health (particularly birth issues and breastfeeding). When I’m not chasing my boys or volunteering with the Marfan Foundation, I love writing, watching medical dramas on TV, and playing Mastermind with my husband (I always win!).

Mark: My husband is my rock. He supports me in everything I try. We met in college, where we were both in the marching and pep bands. Mark is an electrical engineer with passions for music, nature, and gaming. He makes a mean grilled cheese sandwich and always loses to me in Mastermind (bwhahaha).

The Menininho: This isn’t my son’s real name; Menininho means “little guy” in Portuguese. He’s the quiet one in our family. M. loves drawing, books, minecraft, and My Little Ponies.

Baby J: Baby J (well, just J now!) is 5.  He loves super heroes, Power Rangers, Star Wars, and following his big brother everywhere. He’s in preschool and a total social butterfly like me. J also has Marfan syndrome.

Miss R: Miss R is the newest addition to our family! She’s itty bitty with a huge personality! Right now she loves crawling and eating anything that she can fit in her mouth.

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59 Comments

  1. Hello, thanks for the compliments May, also you’re a great woman :)
    Marijana please contact me at the email address because the vein family from Croatia, corresponding with you and I connect, so I’m glad we have also launched here link, of course, with the help of Maya :)
    Thanks Maja for space :)
    Simon

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  2. Hiya Maya what a great job You are doing here all Your info and advise is great. I thought I new a bit about Marfan’s just from Family experience but You know a lot :-) Marfan’s has really struck My Family hard the last few years have been tough I especially seem to be having the ongoing problems with a hernia surgery the next thing this week. After Davis procedure last year then a AAA after that which will have to be repaired next. Marfan’s is very dominant with my Dad diagnosed in 2000 after dissection he was adopted he survived until 2 years ago :( my brother dissected 3 years ago and My Sister had the Davis a year and a half ago. 2 out of 3 of My children have Marfan. Where are You from? It must say somewhere though I haven’t come across it I am in Australia and would love to find out about conferences and such near me? Keep up the great work :-) will tell You how I get on with My hernia opp on 6th may.

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    marfmom Reply:

    Hi! Sorry for the delayed response…had some blog issues! I’m in the US. There are conferences and an organization or two in Australia though. I recommend joining the Facebook group Linked by Marfan. It’s mostly people from Australia and all the meet-ups are published there! How’d your surgery go?

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  3. Hi Maya
    My family have had a hard time with Marfans lately my mother died a few months ago from heart complications she had all the classic signs of Marfans and was diagnosed 25 years ago after 20 years of telling doctors she had Marfans but no one listening. My brother has Marfans and has just had heart surgery, I have no signs of the disease I did go to a hospital for tests and they reassure me I don’t have any of the signs. Since I have had kids, two beautiful boys 13 and 11, now the oldest is reasonably tall and skinny and flexible no other signs of Marfans, am I being paranoid or should I get him tested?
    Thanks Geoff

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    marfmom Reply:

    Geoff,
    My condolences on your mother’s passing! Marfan is autosomal dominant (caused by 1 change to the gene and if you have the change, you have the disorder), so it can’t skip generations. Marfan can vary widely within a family though, so to put your mind totally at ease maybe genetic testing is something that can be explored. If your brother hasn’t had the genetic test already, it would be best to start with him, to be sure that a change to the gene can be found (and to confirm it’s really Marfan, as opposed to a related disorder, some of which are very new). If his test comes back positive, then you can be tested for just his change to the gene. Not sure if you saw a geneticist when you were evaluated at the hospital, but they can help guide you as to whether genetic testing would be a good option, or whether your son should have an echo just to be safe. Good luck!

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  4. I was born with Marfans,yet after testing neither my mom or sister has it and neither did my dad.how is this possible? i was born with multiple symtmps,and no doctor ever told me i had it until i was 19.if it wasn’t for an opthalomogist living in Vacouver BC who removed the crystalene lenses in my eyes,n saw that i was tall n skinny,iwould have never found out i had marfans,or what it was.

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    marfmom Reply:

    25% of people with Marfan have it as the result of a spontaneous mutation that occurred at conception. So, that’s how you have it, and likely me as well (my dad was never tested, so I can’t know for sure, but it’s assumed I’m a spontaneous mutation).

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  5. Hi Maya!

    I am a first time mom of a 14-month old girl who I suspect has Marfans. I suspect it because I am convinced her dad has it. A few weeks before she was born, doctors investigated a heart murmur my husband had and determined his aorta was 8cm across; i.e. way too big! My husband is 6’4″, Korean (pretty tall for an Asian dude, I’d say), has bad vision (though an optometrist says his lenses are not dislocated), has long arms, legs, hands and feet, flat feet, stretch marks (even though he is thin), and had a hernia repaired several years ago. He is adopted so we have no health history from his biological family. But given his physical traits and his heart problems, his cardiologists have all assumed he has Marfan’s. A week after our daughter was born, he had open heart surgery to replace his thoracic aorta and the valve that connects it to his heart. He hasn’t had a genetic test, but I am convinced nonetheless that he has the syndrome. He is now on beta blockers to control his blood pressure, but has otherwise resumed an active lifestyle including an occasional jog around the neighborhood.

    Now our daughter is also tall and thin like her dad (she is in the 90-something percentile for height and maybe the 40th for weight), has long hands and feet, long legs, and a short-ish torso. I wanted to take her to a pediatric cardiologist who was recommended to me by the Marfan Foundation, but when I brought up the idea to my husband he said he thought it was unecessary. He cited his normal and active childhood and how he had sports physicals in school and no problems were ever detected, so he thinks she has to be older for the disorder to be diagnosed. I shared white him that my concern was if there is something she can be doing now (taking blood pressure meds?), maybe she’ll never have to have heart surgery. He insists that testing at this age is unnecessary and that I’m only acting out if worry. He also admitted he feels guilty about possibly passing on the syndrome to her.

    Long story endless, I want to try again to ask my husband about taking her to get tested. I know some would say “just do it, don’t ask your husband!” But for him to be on board and not feel like I disregarded his wishes, I want his blessing.

    What can I say to him to convince him that it’s important to find out IF she has it; and if she does, that we can stay early with some preventative treatments (like beta blockers and monitoring her heart)?

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    marfmom Reply:

    I would show him the 2014 study on losartan vs atenolol (first author is R. Lacro) that showed that the earlier medication is administered, the better. In addition, we don’t know how things might have been different for him if he’d had an accurate diagnosis early on and had changed his lifestyle. He may not have needed surgery. Finally, kids are not always affected like their parents. Your daughter could be more or less affected, and if she’d more affected, you won’t know if you’re not monitoring. It’s easier if your husband has genetic testing and then your daughter can be tested for his change to whatever gene (if it’s Marfan, it’s FBN1, but there are other aortic disorders, like 5 types of Loeys-Dietz syndrome, that could be ruled out at the same time). She can be tested without him though, but it may not be as accurate. If nothing else, I hope he’ll agree to an echo. A normal echo at this age does NOT rule out Marfan. I tested my sons at birth, since I knew my mutation. J had regular echoes from 6 weeks old on and didn’t have enlargement till he was 4 years old (he started medication at 2.5 years old). We didn’t start echoes till I was 8, and I had enlargement then, so we don’t know if J had enlargement earlier than I did. Finally, The Marfan Foundation may have some resources they can send you. Their nurse is Amy, and you can reach her at akaplan@marfan.org, or 1-800-8-MARFAN. Good luck!

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