No Genetic Testing Until Mom Has It Done

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No Genetic Testing Until Mom Has It Done

Postby pmielke » Thu Jun 06, 2019 4:49 pm

My mom has multiple calcified cavernous malformations and had one surgically removed several months ago after it bled/caused vision loss. She has not been genetically tested but it was advised by her neurosurgeon for her kids (me) to be tested for the familial form due to the number of cavernous malformations she has.

I currently live across the country (PA) from my mom and have no family doctor and wish to get genetic testing. I called the genetic testing center here in Pittsburgh UPMC but they said they cannot perform testing on me until my mom has been tested.

My mom doesn't have the money or insurance to get tested and I want peace of mind regarding this condition as I have been experiencing tingling sensations/headaches on one side of my head 10+ times a day and have scattered microbleeds throughout my brain. Should a letter from my moms neurosurgeon be sufficient evidence to undergo testing? What are my options?
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Re: No Genetic Testing Until Mom Has It Done

Postby Elizabeth » Wed Jun 26, 2019 12:08 am

I don't know much about genetic testing. Search the old threads here and email Connie if you still have questions. There was some free family testing before, but I'm not sure on it now.
Diagnosed September '09 with one CM centered in the right insular cortex/basal ganglia. Saw many, many doctors and had surgery 12/10/10 with Dr. Spetzler. I am thrilled to have this bleeding thing out of my head even though I suffered a stroke during surgery. Have had/ continue to make an amazing recovery.
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Re: No Genetic Testing Until Mom Has It Done

Postby Connie Lee » Fri Jul 12, 2019 5:30 pm

We can test your mom through our free genetic testing but she will need to have a doctor who can receive the result. To begin the process, she should register on our patient registry ( and indicate that she'd like more info about testing.
Connie Lee
President and CEO, Angioma Alliance
On this journey since 2000, when my infant daughter was diagnosed.
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Connie Lee
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