So 9 months later and finally we had the appointment with a genetics doctor about what they found in her tests and the results are peculiar to say the least.
They found a mutation that has never, ever been seen before. (Yes we were gobsmacked). The mutation was found in the ENG gene that is associated with HHT, so the doctor said that his gut feeling is that Katie has HHT but because this mutation has never been seen before they cant be sure exactly what it is doing to her, or what it will do, or what this means for her. He also said that they dont know if this mutation has occured in Katie, or if it has happened further back in our families so we have all been recommended for testing and screening, not only for ourselves but also to try and get some sort of idea what this gene is doing.
Completely seperate to Katie and her AVM’s however there is possibly also a link in our family to Marfan Syndrome which we discovered during this appointment which is also a bit worrying, but we are taking all these tests step by step and going to find out whats happening with this ENG gene first.
…feeling overwhelmed.
No doubt that you are overwhelmed! Seems like there’s more questions than answers (or atleast something probable that would help our situation) and that is frustrating within itself. Just breath and take it one step at a time. Good luck! Please post an update once you find out. (Typing the update will be ‘therapeutic’ for you, as well, as help others who may potentially face this.)
Wow, crazy!! Gene testing is great until you hear things like this, then you realize how little we really know about it all, just because it’s been mapped doesn’t mean we understand it all…