What It's Like to Dodge the Bullet of the 'Family Disease'

I have lived my whole life playing a genetic version of russian roulette. In this version the gun is half loaded, leaving me with a 50/50 chance of getting hit.

Round and round the cylinder spins… Pull the trigger…

As far back as I can remember there has always been a rare disease in my family. It had no name, treatment or cure. It was so rare that none of the doctors knew what it was. As a little girl I remember wondering what happened to my grandpa on my mother’s side. When I asked I was told, “He died from the family disease.” One summer when I was about 12 years old my mother took me to visit a great aunt of mine. I saw she was using a walker. I asked what was wrong with her. “She has the family disease,” I was told. A few years later as a teenager my mom’s sister came to live with us. I asked why. “She has the family disease,” I was told. This was the first time I would see the “family disease” firsthand.

 

These are the basics of the rare “family disease.” The first symptoms start when the person is in their 30s. It is passed down from parent to child. It starts with hearing loss, then sometime after that comes the peripheral neuropathy causing the person to have balance issues. Then the dementia begins. From then on, it just gets worse. In the end the person is bedridden, unable to speak and unable to feed themselves. Their organs begin to shut down, leaving nothing left of the vibrant person you once knew.

Round and round the cylinder spins… Pull the trigger…

I don’t remember when I first knew my mom had the family disease. Some memories you bury deep. I do remember that over a 15-year period I watched my mom go from being a night nurse for a little boy in a coma to being bedridden herself, unable to speak, feed herself or hold her newborn grandson. I know I was left with feelings of guilt, anger, helplessness and intense sadness.

At the time of my mother’s passing I was 31. The family disease still didn’t have a name. All of the doctors still didn’t know anything about it. There was no test to take to see if you would get it. Still no treatment, no cure. The disease would take the lives of several more family members before it would make its way back to me and my four siblings.

Round and round the cylinder spins… Pull the trigger…

My brother was starting to have a hard time keeping a job, he was having trouble hearing and he was starting to have a hard time comprehending simple tasks. Eventually my brother moved in with my dad, and my dad became his caregiver. Later that year my older sister had to quit working as well. She was no longer able to live by herself, and so she moved in with me and I became her caregiver.

It was through my brother and sister we were finally able to put a name to the family disease. They both had given DNA samples to their doctors. The doctors were able to see which gene was mutated and match it with other samples. They found that the mutation was in the DNMT1 gene. For the first time we were given a name to the family disease: hereditary sensory and autonomic neuropathy, type 1E (HSAN1E). The average lifespan of my family members who have HSAN1E is 50, give or take a couple years. I lost my sister in 2015 at the age of 48 and my brother in 2016 at the age of 49.

Round and round the cylinder spins… Pull the trigger…

Shortly after my brother and sister got their results back, I decided to get tested for HSAN1E. I was the first in my family to be given the option. It was an easy decision for me. I had years to think about all the what ifs and I was done playing this cruel game of Russian roulette.

I dodged the bullet. My test results came back negative.

I am now driven by the desire to make sure my loved ones didn’t die in vain. Once we knew there were other families with this same rare disease I felt the need to meet them, to exchange stories with them and support them in any way I can. My family and I felt the best way we can do this was to start a nonprofit. In 2015 we started the HSAN1E Society. My passion for raising awareness for HSAN1E has grown. I am a survivor of this genetic game of Russian roulette and I will spend my time making my voice be heard.

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Thinkstock photo via allyanora.