CCM2 Diagnosis

Discussions about the illness, treatments, doctors, etc.

CCM2 Diagnosis

Postby Andreeah » Thu Jun 28, 2018 3:51 pm

Hello Everyone!
I'm new to the forum, discovered that I have the CCM2 gene mutation during genetic testing for other issues.
I'm seeing a neurologist because I have unexplained falls but no black outs. No word yet on if I have CCM's or not.

I've been reading everything I can find on CCM's and it seems as though most people with the mutation eventually develop CCM's. The question is whether or not they're symptomatic.

Does anyone here have any additional information about this?
I'm supposed to see an epileptologist to investigate further and I'll ask questions once I see her.
Some peace of mind, for now, would be helpful and deeply appreciated.

Thanks for your help!
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Joined: Thu Jun 28, 2018 3:43 pm

Re: CCM2 Diagnosis

Postby Elizabeth » Fri Jun 29, 2018 6:23 am


I don't know the "scientific" answers to your questions. I just know from reading other families' stories that yes, some people have the gene and remain asymptotic. If you are asymptotic now, you might be lucky and remain asymptotic!!!
You are welcome to ask questions here...and you might get a few people to chime in, but you might find more responses and more people if you check out our Facebook group. I'm not on Facebook, so you won't find me there....but from what I hear its more active than here.
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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Joined: Mon Sep 27, 2010 6:49 pm
Location: Los Angeles

Re: CCM2 Diagnosis

Postby Michelle2000 » Sat Jun 30, 2018 4:09 am


Welcome. I am sorry you have this diagnosis, but I'm glad you found this site. You can find a lot of information on the Angioma Alliance website (link at upper left).

Yes, most people with CCM2 have multiple lesions, but many, maybe most remain asymptomatic. Others may be asymptomatic for most of their lives. My MIL first had a bleed at age 62. My husband's symptoms are mild - some numbness, though his brain and spine are full of CMs. His brother had a scary episode of unrelenting hiccups (many weeks), but is doing well now. My son had a serious bleed at 9. Everyone is different, and they don't yet have a good understanding of why some lesions bleed and others don't.

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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