I was told that my very soon to be 7 year old son may have a disorder called noonans syndrome... he has been battling issues now for most of his life and always been told it is his asthma, well we have proven 4 times he doesn't have asthma.. I have a disorder called neurofibromatosis.. and he has the cafe au lait marks like me (a sign of NF) well he meet with the genetics doctors and got ALL of his medical records and REALLY took the time to listen to EVERYTHING this poor little man has been through.. he feels that my son might have what is called neurofibromatosis-noonans syndrome (NFNS) well they only tested him for NF.. negative... they firmly believe with all that has been gong on, from heart issues to choking on foods to fatigue with exercise and so on that he has noonans... i read the information on it and boy I think we actually may have an answer... FINALLY it is the unknown that drives a parent crazy...I mean his heart rate goes up to 263 beats per minute (while watching a movie) and as low as 38 (with a fever) his implant says it is fast VT but his cardiologist says no arrhythmia going on... even though he is tired when this happens...
now my questions are.. is the only way (i know it is the guaranteed way) but is the only way to diagnose noonans syndrome by genetically testing them or do they go by clinical signs... and if he in fact does have it, what type of specialist does he see? he sees a cardiologist, ENT, Pulmonologist, and now he is seeing a gastro doctor...
Thank you so very much for any help you can be of...all i want for him, to help him is to get answers
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