Mom has CCM; should I get genetic testing?

Discussions about the illness, treatments, doctors, etc.

Mom has CCM; should I get genetic testing?

Postby tokun » Wed Jul 18, 2018 4:48 pm

Hi everyone,

I hope that this is the right place to post this question. My mother began experiencing extreme migraines nearly twenty years ago. She had an MRI and was diagnosed with a CCM in her left temporal lobe. She also had an EEG performed and was diagnosed with epilepsy despite being asymptomatic.

Since diagnosis, she has not sought out any medical care or advice despite many prevailing symptoms. Some of her symptoms include migraines severe enough to impair all functioning 2-3 times per month, mild epilepsy, and recent visual changes. She also has severe mood disturbances, but I do not know if this is due to the CCM or other causes.

I am not trying to push my mother into treatment because that is her decision to make. However, the genetic possibility of CCM is something that may affect me. I would like to be aware if I am predisposed to developing CCM and if this is something I should take into consideration when planning to have children.

Does genetic testing seem to be a reasonable option for me? Is this something that is feasible even if I do not have any specific medical information about her condition? I understand I need to speak to a doctor for true medical advice, but this forum seemed like the best place to start with my questions.

Thanks in advance!
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Re: Mom has CCM; should I get genetic testing?

Postby Michelle2000 » Mon Jul 23, 2018 2:52 am


I understand your wanting to know whether you have the CCM gene. It is hard to watch your loved ones deal with this disease. Getting tested is a personal decision that can be hard to make.

You need to know a few things- first, does you mom have multiple lesions? If she has multiples, it is likely she has the genetic form and you would have a 50% chance of having the gene. If she only has one, it is almost certainly sporadic and you would be no more likely than anyone else to have it. If your mother hasn't had an MRI in 20 years, it might hard to know if one really is only one (as technology has improved).

The second thing is that genetic testing is expensive and insurance doesn't always pay. It would be best for your mother to be tested (only if she has multiples) first. There are 3 known CCM genes. If she has a gene, then you would be tested, ONLY for the gene she was found to have.

Best wishes,

18 year old son with brainstem CM resected in March 2010, CM at C2-C3,
CCM2 mutation; DH & BIL with multiples in brain and spine; (MIL - deceased spine & brain)
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Joined: Thu Dec 02, 2010 7:40 pm

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