I am Jean Swidler – My Research Experience
an ALS gene carrier
My mom was a civically-minded person and was always involved in many altruistic endeavors – I wanted to do some small part for ALS research in her memory.
My Research Experience
By Jean Swidler
As I coped with my mother’s battle with ALS, I heard from her and my siblings that the ALS clinic she was being seen at, Columbia University, was recruiting first degree family members of familial ALS patients to participate in research. It was casually mentioned and easy to gloss over when my mind was focused on my mother’s comfort. When my mom ultimately passed, I flew from my home in California to my parents’ home in New York. After the dust settled from the funeral, and while I was still at home with my dad, I decided to look into participating in the research study. My mom was a civically-minded person and was always involved in many altruistic endeavors – I wanted to do some small part for ALS research in her memory.
The ALS Center at Columbia and its ALS Families Project were very open and friendly about me signing up. They had me come in on short notice, as I was only in New York for a short while. Even on the drive in, I felt a sense of pride for doing what I felt was the right thing. The day of tests was long, and some of the tests were uncomfortable – it was especially hard to realize I was in rooms and undergoing tests that my mom did not that long ago. When offered the chance to know my genetic status I decided against it, as I did not want to make that decision so close to my mother’s passing.
In the months that followed the visit, I realized that knowing my status was the right decision for me, and on another visit to New York I was able to arrange for a free anonymous genetic test through the ALS Families Project. When I found out that I carried the C9orf72 gene mutation, it was comforting to me to know I was involved in regular longitudinal research. Longitudinal research and studies involve repeated observations of the same variables over a specific amount of time. Knowing a neurologist was going to evaluate me regularly makes me feel confident that if and when ALS develops, it will be caught early. I also appreciate knowing I will have opportunities to hear about the latest research and new treatments.
I look forward to my next testing trip to New York and encourage exploring and participating in ALS research when possible!