I want to tell you a little bit about my relatives who have had ALS.
First my Aunt Patty got sick. She was my mom’s little sister. She was a cloistered nun in Connecticut when I was little and I remember visiting her and only being able to speak to her through a grill with pretty small openings. She left the convent and moved to Columbus, Ohio and became a teacher of blind children. I remember her big Braille books. I remember she also had two dogs. Once when she visited us in Oak Park, Illinois, she helped my mom make dinner. I don’t remember the main course but the side dish was peas. Aunt Patty played a trick on us, because the peas were candy peas! I don’t have information about how her ALS started but it progressed very quickly.
My mother, Ellen Leary Saunders, was a dietician, or nutritionist as they are called now, out of college and she worked until she became a mom. She had 6 kids and was a stay at home mom. Throughout my childhood, she did keep up her membership in the American Dietetic Association (now called The Academy of Nutrition and Dietetics) – I remember loving the brightly multicolored spines of the journals on a bookshelf. She enjoyed tennis and needlepoint.
My parents divorced when I was a senior in high school. My older brother, Tom, was in college, 2 of my sisters were also in high school, and my youngest sister and brother were in elementary school (K through 8). In April of my senior year, my brother Tom died in an accident.
After this devastating year, my mom went to work at a local bookstore, Logos, owned by her good friends Bob and Marietta Walsh, where she was the greeting card buyer.
At the same time that she worked in the bookstore, she was going to a local college, updating her nutrition degree so she could go back to work in her chosen field. She worked as a hospital dietician, and also did weight loss counseling at the local Y, until she couldn’t work due to ALS. She had her first symptoms shortly after her sister died. Her ALS started in her arm, and was first thought to be carpal tunnel because she used computers and other devices at work repetitively. She came out to Reno for our wedding in May of 1992, and my brother, Pete, remembers she had trouble with her leg on the trip home. I am glad that Stan got to meet her before she was really sick.
My mom died in May of 1994 at age 62, so her ALS progressed quickly too.
My second cousin, Peter Stephenson, had his first symptoms in 2000. He is the son of my mom’s first cousin. His started with his hands atrophying when he was 52. He lived in Europe and had very high level computer programming jobs. At first they also suspected carpal tunnel, but it turned out to be ALS. Within 6 months he was losing his speech.
Peter died in 2004, at age 56, leaving two teenage daughters.
And then comes me, with an entirely different start to my ALS. I first had slurred speech at age 55, then trouble swallowing food, then a gastric feeding tube. But it has not progressed to my limbs yet so I am able to be pretty active. I will be 57 in June.
My mother’s DNA was preserved and she was determined to have the C9ORF72 gene mutation. I will submit a blood sample for testing next week and once it is confirmed that I have the same mutation, I will participate in a clinical trial to learn about how this gene mutation expresses itself differently in different people, even in the same family. I figure this is the best contribution I can make to my siblings, my son, and cousins. It is the first step to finding a cure.