Hi everyone -
Today Leah is off to the Genetic Testing clinic at Sickkids - and unfortunately i cannot be with her. My husband is taking Leah down, as i am staying home with our other kids today This is her first appointment with that clinicā¦but i am curiousā¦do they check for HHT with a simple blood test? Do you know how long it takes to get results?
Also we havenāt been told that they are specifically looking for HHT - I am assuming that based on what i have read hereā¦our doctor has just told us he is interested to find out if there is more behind this avmā¦
Any input or thoughts would be wonderful!!
I was tested last week. I had a ECG bubble test to see if they could find anything in my heart, a chest xray for my lungs, blood work, a physical check over including listening to my liver for signs of bruit. Lots of questions but nothing invasive. They didnāt find anymore AVMās but they still havenāt ruled out HHT. The clinic is currently digging into my fily tree further. HHT is unique because every family has itās own unique identifying marks.
Thanks Steph - just spoke with my husband and they are testing her for the RASA1 mutation gene. They took a blood sample and have to send it to Europe for testing? Takes 6-10 weeks to get resultsā¦
Hi Stephanie, sounds like your doctors have been very thorough! Would you mind me asking where you were treated and where you had this additinal testing done? I have a brain AVM and have often wondered if there could be any more AVMs lingering in me that I am unaware ofā¦
Thank you!
Michele
Good morning. I also have an AVM, unruptured, in the left frontal lobe of my brain. I was treated by Gamma on June 22 at Toronto western hospital in Ontario. I was referred to the HHT clinic at St Michaels hospital because there are at least two others with AVM ( brain and lung) in my family. That bring said we are distantly related; we share ggggrandparents. Our son actually scores higher than I do for HHT but they want to start testing with mer first because I already have one AVM. Hope this helps.
This helps alot Stephanie - thank you very much!!! My AVM site was my right, frontal lobe which did rupture back in FEB. I didnāt know I had an AVM until it rutpured and was treated with an embolization at the time of the rupture and CyberKnife back in June to take care of the residual. I am going to talk with my doctors about testing to see if I may or may not have any more AVMs.
Thank you again for your response - so very appreciated!!! I just love this site!!!
/Michele