My son's genetic testing came back negative for the two chromasomes and he's never has a nosebleed or any of the other HHT markers. The doctors seem to think that none of that matters and continue to want to find new ways to test him.
He had his AVM coiled in Early July, and just got off of Coumadin in January. I am trying to figure out if there is any reason that I need to take him to Yale to see Dr. Robert White after genetics came back negative.
Steve . . .
I have had 13 embolizations over the last few years . . . and I have a ton of PAVMSs that are small enough to just "keep an eye on".
I do nor have any of the other HHT symptoms either -- I have not paid for the genetic testing, but I do not meet the criteria for clinical diagnosis. The docs keep going back and forth concerning this -- mainly because I also have pulmonary hypertension, and that could be neatly explained by the HHT.
You might not need to go back to an HHT specialist, but they are normally the ones with the most experience in dealing with AVMs. Look around, you might have an amazing interventional radiologist in your area -- and that might be enough for you??
Good luck -- wishing you and your son the best!