Ambassador Stories
February 19, 2021

Together, We Are a Force

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In her own words, Kristen shares her CCM3 syndrome journey and what she's learned about the rare disease community.

I was nine years old and had the flu. But a day or two later, I started having some vertigo and told my mom that I saw two of her. She rushed me to the doctor, even though it was nighttime.

Two doctors came in. They asked me questions, which I answered, puzzled, and they looked equally puzzled. They decided that maybe I could at least get up on a scale and they could get my weight. When I was placed on the scale, I wobbled all over the place like I was on ice. It was then that I knew I didn’t have vertigo, I just couldn’t stand, let alone walk.

The doctors took my mom aside and told us to go to the hospital. In the emergency room, lots of things happened, but it remains pretty jumbled up for me. What I don’t remember being told is that I had lesions in my brain and that one had bled a good amount in the pons of my brainstem and that I was going to need surgery. They told me that I had AVMs (which I would find out was actually cavernous angiomas, caused by CCM3 syndrome, 16 years later).

I became paralyzed on the entire right half of my body. I was having blackouts, dizziness. I was smelling things that weren’t there, which turned out to be a seizure. I had the weirdest feelings of being out of it. It was five steps past surreal. The most impressive computer I would ever own (my brain) had to be rebooted and the information and understanding of things was coming in slow. Word recall, the ability to stay awake, the ability to make sound judgements was highly diminished. The paralysis made it very difficult to speak, let alone have people understand me.

It was decided I was to have a craniotomy to extract the brainstem lesion. After this surgery, my mom and dad were told the good news. I wasn’t dead, I wasn’t paralyzed, the surgery had worked.

When I was released from the hospital I had a lot of work to do for my recovery. I had to relearn how to walk and talk. I was sad, but I don’t remember there being any crying. Feeling strange was my new normal. It would be later in life that I would cry for that nine year old girl.

When I could finally go back to school I had the presence of mind to explain to my schoolmates my ailments and general situation. I figured that kids made fun of what they don’t understand. People treated me fine, but they really didn’t treat me the same. I was a little broken to them it seemed, and they didn’t know what to do with that. I celebrated the small victories. The day I could tie my shoes again remains one of the best days in my life. It was a hard-won gift that let me know I was coming back.

When I was 10, 11, and 12 I had Gamma Knife surgery. Gamma Knife surgery is where they use gamma radiation (that looks like a knife) to go through your brain to destroy the bad parts of your brain. In this case the bad things were my lesions. I had so many. Hundreds. The idea was that if we could get rid of a bunch per surgery, I would be in better stead because I had so many. This was supposed to give me a better quality of life.

At such a young age, I basically did whatever my doctors and parents all agreed was a good idea. It felt like it was the only thing I could do.

It turned out these gamma knife surgeries were a horrible idea. They and I were aghast to find out that, because of the amount of radiation I took in, all the lesions they took out had grown back and multiplied.

Cut to the few days before I graduated high school. I was 18. I had the worst neck ache I’d ever had on the left side of my body, a tingly numbness in my left arm, and my mind was incredibly clumsy and slow. I basically made myself go through walking in my graduation ceremony, going to dinner with my family, then going to grad night because I wanted to keep that part of my life for myself and make memories.

The next day I went to the ER and found out that I had a big bleed in the back of my brain. A brain bleed is a feeling that is so easy to forget but SO easy to remember. There’s sunfire orbiting your brain. There’s comets coming out of nowhere. There’s a big black hole at the center of it covered in dust and smoke. I was having an ongoing out of body experience (a seizure). It was as if the whole world was a movie. It was as if I were watching myself, watch myself, watch the world.

My computer needed to be rebooted again, and it was going to be more complicated this time. My computer shutting down before rebooting itself means that my sense of self went away. I was living with a stranger.

They decided to let the bleed absorb itself. They didn’t want to do surgery because the lesion would just grow back again. The ICU kept me for a week until they discharged me. I would have to learn to walk again. I needed physical therapy and occupational therapy. I needed help with everyday and/or embarrassing things like zipping up my pants.

Humility takes a back burner, but, by asking for help my brain would relearn how to move and react. I learned that you ask for help now so don’t need it later. I also came up with an idea that I still use today. It goes “Hold on to your friends and family. If you feel too far removed from them, hold on to yourself. If you are too slippery to hold onto, hold on to the idea of holding on to yourself.” That got me through a lot.

I got slowly better over the span of a year until I got to my new normal and I recognized myself again. Like an old friend, I actually hugged myself as if to say “Oh, there you are. I missed you.”

I could walk, and my fine motor abilities mostly came back. I could concentrate but not for more than a couple of hours, or brain pain would set in and my mind would get foggy. I was constantly dealing with pain, symptoms, and those helped form my personality for the day.

Years later, after I graduated college, I was contemplating what the rest of my life would be like. I was thinking of what could happen with my brain, what could be a legacy to help people I’d probably never meet that had my same illness. AVMs.

I asked my neurosurgeon where I could donate my brain to science whenever I should die. He just said, “Well, looks like you should see a geneticist.” I had no idea how that was going to help me, but I agreed to have him refer me to one.

The geneticist heard my plea and said that he wanted to do a blood test and send the blood to a facility that could tell me what gene I had that caused my brain lesion.

Two months later he called me in, and I learned, at the age of 25, that I’d been misdiagnosed with AVMs my whole life. I had CCM3 (PDCD10) cavernous angiomas. I stared at my gene very intently. This was it. This was why my doctors had ideas of how to treat me but not a whole lot of answers. This is what caused all my ailments. This was real, and I treasured it. It was the best present I thought I’d ever been given.

In addition to this, my geneticist told me there was a support group on Facebook called the Angioma Alliance. I could become a member. I could write in a forum between people who also had cavernous angiomas. My mind was blown. Metaphorically this time.

There was person upon person chatting in the forum about what symptoms they had and others giving advice on it. To say I was happy is a gobsmacking understatement. I had more answers than I had ever hoped for. I now knew people who had what I had. I knew people who understood the haphazard craziness of the disease, and now they were all my friends on Facebook. I sobbed with happiness.

Since finding Angioma Alliance I now had a sense of community behind the disease. It is like I found a second family. The experts that run Angioma Alliance, like doctors, their cohorts, scientists, caregivers that volunteer, etc. were the godsend dream team that are all working for help and a cure besides surgery that cavernous angioma patients only imagined in our wildest dreams before.

I’ve also joined AllStripes, a platform for the rare disease community to centrally store their medical information while contributing it to research, all at no cost to the patients! I think it’s amazing that people are looking into our rare disease. Other people don’t seem to care. We have to make them care. AllStripes is searching us out on purpose, and that’s not usual for us.

I believe that with the help of AllStripes we can find new ways to help people with CCM3, like me, and shed some light on the disease

Us members of the angioma community keep each other strong. Together, we are a force. Because yes, we’ve been through hell, but hell hath no fury like a soul reborn. And going through all of this gives us enough strength to believe that we can do it all again, if, or when, the next time comes around.

If you have been impacted by
CCM3 syndrome
learn more about the benefits of joining AllStripes
by visiting our
CCM3 syndrome
research program page.