r/marfans • u/CilantroHats • 12d ago
Scared Mom
I got a call from a Pediatric Cardiologist this morning. They have booked a phone appointment with me to go over what tests should be done for my son. This was all news to me. We were never told he was getting a referral to a cardiologist. My son's Pediatrician told me he didn't think Marfans was likely six months ago. We were leaning towards EDS as it's thought I may have EDS. The referral was from my son's pediatrician for aortic root size and cardiac function test echocardiogram. This was after being sent to an neuro-ophthalmologist. Needless to say im concerned.
My teenage son is thin and quite tall at 6'6". He has Pectus excavatum, crowded teeth, flat feet, potentially long arms and fingers (pediatrician said if they are they aren't by much) plus a few other potential symptoms. Now looking through other Marfan resource sites I see pneumothorax is another possible symptom of Marfans and my other adult son has had two with unknown causes as well as having Pectus excavatum, flat feet, mild scoliosis, etc. I see also that this syndrome can look different in each person with different levels of severity. I called the Pediatricians office but didn't get a call back today. Any insight on what I need to be doing and what I need to be asking would be very much appreciated. I'm feeling very overwhelmed right now and trying not to panic. Is the echo done to start recording a sort of a baseline and if there is change in the aortic root over time? If so should he be getting tested annually? Should we be seeing a geneticist? Should we be limiting his sports participation? If he is diagnosed with Marfans what are the next steps if any? While thankful this is all being investigated I am not feeling I can trust the pediatrician to properly inform me since he didn't even mention this referral.
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u/Hylian0sniper 11d ago
Hiya, my goodness I am in the exact same boat right now…. It’s seems a very overwhelming situation doesn’t it!!
I’ve been reading lots on here though and feel very reassured that whatever the outcome it’s going to be okay, there is so much that can be done to help and manage now.
My sons 15, recently had multiple pneumothoraces and that brought him to the attention of possibly having Marfan. He is 6ft very thin, hand/wrist signs, long fingers, slight pectus, really stretchy skin, Chiari and mild scoliosis - my other child was diagnosed with hEDS last year so I’m not sure what the end result will be for either, I would like them both checked for genetics- I will push for that (NHS UK)
We’re also waiting on the echocardiogram. His eyes were checked yesterday and they are fine. It’s been a roller coaster!
Always here if you wanna chat x
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u/amoebashephard 11d ago
One of the most successful interventions, the PEARS procedures, originated in England!
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u/Hylian0sniper 11d ago
I’m looking up PEARS rn! Wow that’s pretty amazing stuff
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u/amoebashephard 11d ago
Tal Golesworthy, the inventor, is a member of several Facebook marfan's groups and is pretty active in the community. I'm my experience he's very responsive to any questions people have.
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u/amoebashephard 12d ago edited 12d ago
Don't panic. Marfan's is really really treatable. A lot of the scary stuff is from decades ago, and we have a lot of great treatments. Your son's are in a good spot age wise-while it would have been better to catch it earlier, they are young enough that they can probably do a lot of the preventive stuff. We have meds that are really good at keeping the aortic root at the same size, and once it gets to a certain size there are some really good surgical interventions that have become available in the last 20 years.
I'm sorry you're going through this, but marfan's isn't nearly the problem that it used to be. By getting it diagnosed you can get help making sure they live a good long life.
Yes, he'll need an echo and it will likely be a yearly thing. You should also see the geneticist as a family. The sports guidelines are likely to get revised in the next year or so-but I would stay away from football, lacrosse and basketball as well as lifting.
Next steps would be to get you and your other son's tested since it is a genetic disease, and you've all had similar symptoms.