From diagnostic odyssey to genetic counselor
I first noticed the stark changes in my mom’s mood and behavior right around the time I began applying to colleges my junior year of high school. I expected her to be really involved with this process, as this was what she had been preparing me for my whole life. She suddenly became indifferent, quiet, and what I now know as depressed. She would cry at the drop of a hat. She stopped wearing makeup. Her beautiful hair, less kept.
In my mid-twenties I was balancing two different jobs; paralegal by day, and bartender by night. My father, who was my mom’s caretaker, was emotionally broken. My siblings both lived in different states, so I felt an obligation to help. The decline was slow, but once she lost an ability, she never recovered it. At this point, my mom was about 53 and started to have difficulty speaking. She moved in slow motion, and developed involuntary movements. She had incontinence. She didn’t remember who I was. It was horrifying.
Her primary care physician diagnosed it as “dementia.” I tried to talk to her doctors about her symptoms, family history, and how she was too young to be showing signs of “dementia.” They all brushed me off.
She became hospitalized for a week due to an infection, so I took time off to stay with her. I spent those nights researching and coming up with a differential. I was surprised to learn how her symptoms overlapped with Huntington’s disease, but the timeline did not match. I ruled out Parkinson’s disease because my mom showed profound memory impairment long before the onset of her physical symptoms. I dug deeper into Alzheimer’s disease (AD) and discovered a familial kind, early-onset AD. I remember the literature using words like “unlikely” and “rare” when it came to this type of AD.
If she had this, I realized what it meant for my siblings and me. This AD is inherited in an autosomal dominant pattern. We were all a coin toss away from having it.
The hardest part about this became convincing her doctors to believe me. After all, I was just a bartender/paralegal with no medical background. There I stood, a twenty-something year old with a pink sweat suit on, mispronouncing medical terms and talking about my research and observations. It was not until a resident at the hospital eavesdropped on my spiel. She came into the room and asked me to write down the gene I had been rambling on about. There were three possible genes, but I decided to write down the most common of the three, PSEN1.
A year later, I was going through her medical records and stumbled across some documents that looked like results.
“Positive.”
That was the first word on the page that caught my eye.
This completely changed the course of my life. I embarked on a journey towards becoming a genetic counselor, thanks to a conversation with Dr. Kenneth S. Kosik, a neurologist and AD researcher, who not only suggested I see one, but I become one. I broke off my engagement, I moved out on my own, I got a job in healthcare, and I joined a support group. The feeling of being lost and isolated began to dissipate. Until this point, I had no idea what I wanted to do with my life. Although I was devastated for my mom, I felt a sense of duty come over me, not only to my family, but to others going through similar circumstances. I have learned that advocating for oneself or a loved one requires a lot of researching and resources. Genetic counseling is an excellent resource and support to patients and their families, and I cannot wait to be a part of it.
Sophia is a second-year graduate student at the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She grew up in Cliffside Park, New Jersey, and earned an associate’s degree in biology at Bergen Community College before getting a BA in Liberal Arts from Thomas Edison State College in New Jersey. In 2016, she began working as a research assistant at the Retina Center of New Jersey, where she facilitated and consented genetic testing for patients diagnosed with retinitis pigmentosa and continues to work throughout graduate school. She loves anything related to cats, coffee, and food, and enjoys cooking, working out, and watching documentaries on just about anything.