Musings of a Marfan Mom

Twenty Years

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Twenty years ago this month, I was diagnosed with Marfan syndrome. I was 8 years old and I am amazed at everything that has changed since then.
baby with Marfan syndrome - http://marfmom.com
When I was diagnosed:
– We were still being told the average life expectancy was around 40 years old.
– We didn’t have the Internet. My parents asked a friend from church to find them information from the medical library.
– We didn’t know anyone else with Marfan, nor were we connected to the Foundation.
– Although FBN1 was discovered as the root of Marfan syndrome in 1991, no genetic test was available.
– I met my first “fellow Marf” at 13 and attended my first National Marfan Foundation conference a year later.
girl with Marfan syndrome - http://marfmom.com
When J was diagnosed:
– He was 2 weeks old, thanks to genetic testing.
– The average life expectancy is in the early 70s, the same as it is for the average American.
– Within weeks of J’s birth and diagnosis, I’d connected with 3 other moms on Facebook with affected babies about the same age. Over time we’ve added other moms to our chat group and we talk every day.
– He met his first other Marfs at a few months of age, at a local chapter event. He attended his first conference when he was 7 months old.
– Losartan was being tested as a possible better treatment for aortic growth than beta blockers.
baby with Marfan syndrome - http://marfmom.com
Today:
– We have revised diagnostic criteria.
– J is 2.5 years old and just started losartan. Initial studies from other countries are showing positive outcomes.
– Other drugs are being researched, to look at additional avenues for modifying gene expression.
– Another researcher is trying to develop a blood test to reflect aortic enlargement.
– Conference now attracts hundreds of people (about 900 in 2012) and the National Marfan Foundation has become The Marfan Foundation.
Marfan Mom and Marfan son - http://marfmom.com
It is an entirely different world now. I could not have imagined how far we’d come over the past two decades, and I’m excited to see what we can accomplish over the next 10-20 years. I think most of all though, I look forward to watching J grow up in a world where he will never know what it was like to feel like the only one. We look at pictures and watch videos of his little Marfriends, and he’s met a few in person already. I pray that this increased access to each other results in a positive self-image always.

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4 Comments

  1. WOW how amazing!!!! Advances in medicine amaze me more everyday and I work at a hospital!

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  2. Maya! I just discovered your blog and found it more than helpful and encouraging! I am from Greece, our daughter is 17 months old and our daddy has the Marfan’s. The cost for the genetic examination for our little girl is very big to handle it at the time..let’s get in touch for more! thank you!
    (what a lovely family you have!)

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  3. I was just talking with one of my dear friends tonight about how far medical advances have come and how more people know about Marfan Syndrome since the foundation was established. We love our MarFamily and enjoy seeing your pictures and updates as we do others we hope to meet one day at a conference.

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  4. I was diagnosed with marfans at age 16 and Now I am 46. Back then I was told life expectancy was around 40 also. My son is 22 and tested negative. Research has come very far over the years. Someday I wish to go to some of the conferences, It would be nice to find others and meet others with marfans. Thank you for sharing your story…

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