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.