Genetic Testing - HHT

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 :frowning: 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 havenā€™t 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!! :slight_smile:

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 didnā€™t find anymore AVMā€™s but they still havenā€™t ruled out HHT. The clinic is currently digging into my fily tree further. HHT is unique because every family has itā€™s 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!

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 didnā€™t 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!!!