Advice for Teenagers with Marfan Syndrome

This year we are focusing on problems of young adults. We recently received the following plea for support from the anxious parent of an affected teenager.  
Parent Question
Dear Marfan Trust, Our wonderful 13 year old daughter was diagnosed with Marfans yesterday afternoon. Her heart scan showed a greatly distended aorta (Z score 5) and she’s immediately started medication. Needless to say we’re all absolutely devastated. Our heads are spinning, everyone’s very upset and we don’t really know where to turn or what to do. We’ve read the information on your website, but it all seems too much at this moment. Any advice, resources, support information that you can provide would be very much appreciated! Thanks in advance. Anxious Father
Marfan Trust Reply
I'm very sorry to hear about this shock to your family. We have sent a booklet for you, one for your daughter, and one for her teachers which will help to explain any limitations to sporting activities. The best advice will come from your daughter’s cardiologist since they will know her health problems intimately. The greatest help will be medication, which will strengthen the aorta prior to surgery if necessary, and will be continued after surgery. Surgery is very safe nowadays with a mortality risk of only 1%, and a 99% chance of success. The surgery will buy time for your daughter, allowing even better medication to be developed.  Marfan syndrome is compatible with a normal life span.
I would recommend a referral to your regional genetics unit who will try to discover the error in the Marfan gene for your daughter.  This confirms the diagnosis and is also useful for screening other at risk family members. 25% of patients are the first ones affected in their family. The other 75% have affected family members. The doctors may suggest echocardiogram screening for you and your wife, and any other of your children.
Because we now know the gene which causes Marfan syndrome, chances are high that in future we could offer your daughter screening of each pregnancy to make sure her offspring are unaffected.  In fact, unaffected embryos can be created and placed in the womb to make sure the baby is unaffected.  This can be discussed at the time with her and her partner.
The Marfan Trust has approximately 5,000 supporters nationwide, so although your daughter’s condition is unusual, it is not rare. There are many young people in the UK who have this condition and we encourage them to speak to each other, especially via our newsletter, social media and online forums.  We will certainly keep in touch.
With all best wishes.
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Advice for Teenagers with Marfan Syndrome
Advice for Teenagers with Marfan Syndrome
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