"In the summer of 2020, I lost the hearing in my left ear. My doctor ordered an MRI. The report didn't indicate a reason for the hearing loss but noted numerous lesions, which I later found out are cavernous malformations, in my brain. None of the doctors followed up on this.

 

In April of 2021, initially, I had a lot of pain in my back and side. The doctors found two hernias and I had surgery to repair them. The pain I had didn't change, and I had very limited energy. Five minutes of doing routine tasks around the house exhausted me. Over the next few months, I began to have difficulty breathing, and felt like I couldn't catch my breath. I completed lung and heart function tests that indicated my organs were fine, but the issue could be neurological. After one of the lung function tests, I developed a myoclonic type of twitch. I started having electrical surges shoot through my body, like I was being hit by a taser. For over 30 years, sometimes when I stood up or started to walk my leg(s) would give out on me for a step or two. This got much worse during this time. At times I need 5 or 10 steps/seconds for my brain and my legs to start communicating, so I can walk without almost falling. 

 

I was fortunate to have the resources to pay for a new MRI, and I was lucky enough to be referred to a neurologist who was familiar with cavernous malformation. After looking at my scans, my neurologist ordered the genetic test panel, and in the fall of 2022, it was confirmed I have CCM2-the Ashkenazi Mutation. Since that time, two additional neurologists feel I may also have a mitochondrial disorder, or a condition related to my muscles. 

 

My biggest challenge has been accepting and dealing with the changes cavernous malformation has had on my life.  Since my symptoms started, I don't have the physical strength or coordination I once had and I'm unable to work. I was a heavy-duty technician who worked on farm equipment for over 30 years.  My memory and thought processes are slow and foggy.  Stress makes all my symptoms worse.  I have very limited energy reserves and never know until I wake up in the morning what kind of day it's going to be. Will I be able to do what I have planned, or will it need to be a rest day?

 

Because the presentation is different for many patients, I know it can be hard to diagnose. I'm fortunate that my wife has been very involved in learning about my condition, and is excellent at communicating with my doctors. When I eat a healthy diet, with little processed food, I feel much better. Living with a CM is difficult, but I try to make the best of every day."