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An Accidental Cerebral Cavernous Malformation Diagnosis

Editor’s Note: This article depicts Anna’s personal experiences with cerebral cavernous malformation (CCM). A pseudonym has been used to protect the author’s privacy.

I discovered I had cerebral cavernous malformation (CCM) by chance. Earlier in the pandemic, I was in medical school and running a lot to relieve stress. When I returned home from my runs, I noticed my vision became bright, as if someone was shining a light into my eyes, which worried my mom and me. Those symptoms ended up being a result of low blood pressure, but the neurologist who ordered my MRI detected a sporadic CCM in my brain, even though I did not have any outward CCM symptoms.

This accidental diagnosis was certainly a shock. Although I’m a medical student, I hadn’t specifically learned about CCM (also known as cavernous angiomas) during my preclinical coursework, so I began researching. I decided to dedicate an hour every Saturday to learning about CCM — I hoped it would better prepare me for how CCM might impact my life (both short and long-term). Alliance to Cure Cavernous Malformation, a nonprofit dedicated to finding a cure for CCM, was a wonderful resource during this time.

CCM is a cluster of small, abnormal blood vessels — when I began explaining my condition to loved ones, I described these clusters as resembling mulberries or blackberries — found in the brain. In CCM, the blood vessels are enlarged and can burst, causing brain bleeding and other neurological symptoms. These symptoms include seizures, headaches, fatigue, difficulty concentrating, and problems with memory. Many people diagnosed with CCM experience refractory epilepsy (also called drug-resistant epilepsy), which means your seizures are difficult to manage because typical antiepilepsy medicines do not control them. As you can imagine, CCM and its symptoms can profoundly impact a person’s daily life.

For over two years, I was symptom-free. But in 2023, I began experiencing numbness and tingling in my left shoulder, arm, and face during a meeting. I called 911 and was taken to the hospital. I eventually learned that this was a sensory seizure, which is a type of simple partial seizure that can affect your five senses. Though I was prescribed an antiepileptic medication, it didn’t help. I was having four to five seizures a day on that medication, so with my doctor’s input, I switched to a new medication.

These seizures were a result of my recent cavernous angioma bleed, which led to another conversation with my doctors about treatment. My years of research and patient support groups with the Alliance to Cure Cavernous Malformation helped me to mentally cope with the emergent situation. Furthermore, I had already sought care from a neurosurgeon and neurologist from a center of excellence. We decided to pursue brain surgery to remove the cavernous angioma, with the goal to reduce my risk of another bleed, as well as reduce the risk of deteriorating quality of life, and prevent seizures. It was an incredibly difficult choice for me to make because I thought, “You’re going to be in the operating room; you don’t know what’s going to happen. You are putting your life literally in the hands of the neurosurgeons.” I ultimately had to trust my health care team, both their medical judgment and technical skills.

I haven’t experienced another CCM bleed, but I still experience about one seizure a month, which leaves me feeling fatigued and detached. I don’t have any triggers, so when I start to feel a bit of tingling, I think, “Oh no, I’m having a seizure.” But then I wait — sometimes it goes away, sometimes it doesn’t. Because they are unpredictable and uncontrolled, I’ve been experiencing some anxiety around them. What complicates these symptoms is the possibility that the tingling sensation may be due to my brain still recovering from the surgery and I have decreased sensation on the left side of my body. It’s difficult to know if I am truly having a seizure.

I knew there was a possibility that surgery would not cure my seizures, but I’d always hoped that I’d be able to stop my seizure medications and go back to “normal” life, or the life I had before my diagnosis. In retrospect, I know that I have to make my own new “normal,” which may include lifelong seizure medication, and these come with side effects like mood fluctuations, imbalance, fatigue, and insomnia. So, I’m still finding out how to fit my treatment into my life. When considering a new medication, I’d ask, “Which side effects are you comfortable with? Which are you not?”

As a patient and a physician in training, I’d encourage other patients — especially those with a rare disease — to learn as much as possible about the condition and advocate for themselves in the medical context. If your needs aren’t being addressed by your physician, speak up about your concerns and/or seek out other medical professionals. As a medical student, I felt comfortable advocating for myself and my future because I had the medical knowledge and researched CCMs extensively. I am very fortunate to be in this position, but others may not know they need to advocate for themselves. I was able to decide, “I am my best advocate. If I have a bleed, this is what I want to do.” The impacts of CCM on your daily life can be severe, and it’s best to know what’s possible.

And you don’t have to do this alone. My advice is to find someone who supports your health needs, whether a health care provider or a loved one. This point became particularly salient to me because adjusting after surgery has been more challenging than I anticipated. I experience short-term memory loss, fatigue, neuropathic pain, and insomnia. I’ve also had over 30 hours of speech and physical therapy. I can really only focus on one task at a time — being in medicine, you have to juggle half a dozen tasks at once. I know I’ll have to pick a specialty where I’m not overburdened. It’s hard to deal with my new reality, knowing that I can’t do everything I could before my diagnosis and surgery.

Moving forward, I still have big aspirations and career goals. I’d love to run a half marathon next year. I also have plans to write a book or a memoir about my experiences with CCM. If I could go back in time, I’d tell myself to be prepared for anything. I’m still incredibly goal-oriented, but I’m trying to enjoy the present because the only thing in life that’s guaranteed is today. I have the power to shape my reality, both in my thoughts and feelings. I’m still learning how to manage my expectations and put less pressure on myself, but I’m taking it one day at a time.

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