Ambassador Stories
February 25, 2021

What Charles Has Learned From the CCM3 Community

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“Gratitude for what we have today (however flawed by symptoms) is always preferable to wasting your emotional strength on lamenting a loss of function."

The neurologist suggested that if Charles’ twitch didn’t get worse, it would probably go away. Cerebral cavernous malformations (CCMs) are a group of related rare, genetic conditions that cause lesions of dilated blood vessels and bleeding in the brain. Individuals with CCMs may experience a wide variety of symptoms including headaches, numbness in the arms or legs, seizures and difficulties with speech, memory, balance and vision. Some individuals with cavernous malformations, however, do not experience any symptoms and often remain undiagnosed.

Around 20 years after his diagnosis, Charles experienced what he refers to as the “Big Event.” One winter, Charles began experiencing numbness on the right side of his body and eventually spasms in his right leg and arm. In the scope of about a month, it got so bad that he was no longer able to keep control of his right leg while driving. This was dangerous, because Charles commuted to work and the roads at the time were typically quite icy. “I was very close to having a serious accident, and I did not wish to do that to myself or my family,” Charles explains.

After years of being relatively asymptomatic, Charles was now having symptoms caused by CCM brain bleeds that he could no longer ignore. He decided to quit his job, which he cites as the best thing he’s ever done.

“I was able to make changes to my lifestyle — my diet, my amount of exercise, my amount of stress in life,” Charles says.

Since then, Charles had another brain bleed which caused him difficulty with speech control and finding the right words. “I could really feel when I wasn’t able to put the words together properly,” Charles explained. His sense of balance also became compromised. Still, Charles considers himself very lucky that his symptoms are not worse.

The “Big Event” incident led Charles to do more research about CCM. He attended an Angioma Alliance conference in Washington, D.C. and met numerous doctors who encouraged him to go through genetic testing to determine his exact CCM variant. “These people taught me that genetic testing was so important,” Charles explains, “And that it would help a lot for the understanding of the disease.”

Genetic testing led Charles to learn that he had a mutation in the CCM3 gene. Mutations in the CCM3 gene cause the most severe form of the condition and individuals with this mutation are more likely to develop high numbers of lesions as opposed to those with mutations on the CCM1 or CCM2 genes. CCM3 also has an additional complication in the lining of the intestinal tract.

While patients with CCM1 or CCM2 mutations usually have a few lesions, Charles has over 100. “That means I have over 100 places in my brain where something could bleed,” he says.

Charles understands he is at higher risk than many other people with CCM. Still, he believes how he has chosen to react to this risk is an important choice in itself: “Risk is real, but it does not have to be overwhelming.” He admits that it has taken years to understand the risks and confusion involved with CCM3. Symptoms among CCM3 patients vary widely and are usually a combination of things unique to each person. Managing the risk of some day experiencing another bleed is a function of managing emotions, insecurities and expectations. He has learned so much from other CCM3 patients’ stories. In particular, the greatest lesson has been that “gratitude for what we have today (however flawed by symptoms) is always preferable to wasting your emotional strength on lamenting a loss of function. It just may return again soon. The body is capable of amazing things!”

Over the last few years, Charles has made progress both emotionally and physically. Charles now works from home so he is able to take better care of himself and rest when he needs to. Additionally, Charles explains that CCM3 causes issues in the digestive lining, so he avoids processed foods and especially foods containing emulsifiers. He says he feels much healthier than he has in the past.

When it comes to research on his condition, Charles has confidence and faith in the scientific process. “As long as I can hold out for science to come out with a solution, I will be okay,” he says. Charles has volunteered to be an AllStripes Ambassador and appreciates how the platform can make it easy to organize his medical information.

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