My Dad’s job moved our family to the Metro East, part of southern Illinois, when I was entering the 3rd grade. My maternal grandparents lived in Greenville, Mississippi and my paternal grandparents lived in Roseburg, Oregon - the towns where my parents grew up. With our extended family spread out across the country, I was very fortunate to have a Collinsville couple that our family met at church, Lew and Barb, assume the role of my local grandparents.
Barb taught me how to make homemade cinnamon rolls. This is an experience no one can forget - the sweet smell of butter mixing with sugar and cinnamon, the beauty of the rising dough, and the reward of sharing in the delight of a fresh batch of warm rolls. How lucky was I!? I enjoyed seeing Lew and Barb most Sundays at church in addition to the home cooking lessons and other get togethers.
A few years after we met, Barb was diagnosed with ALS. It was the first time I’d heard of the diagnosis and it is the worst diagnosis I would come to know. The question of “why Barb?” filled my head as a child. This experience led me to seek a career in medicine. I went on to obtain a degree in biochemistry - worked in a lab for a few years, volunteered as a hospice volunteer, worked as a science writer for the state legislature, and eventually delved into the fascinating field of genetics - I obtained my master of science in genetic counseling in 2011 from Northwestern University.
Little did I know that years after my first introduction to ALS, I would help my own sister and her family navigate the world of genetic testing, and find out the cause of ALS in her family, a repeat expansion in C9orf72, which is at this time the most common cause of genetic ALS. This piece of information is SO important as it will likely be the key to preventing my brother-in-law from developing symptoms. His wonderful mother, Joanne, lost her life to ALS just three months ago. I am motivated by my time with Barb and, more recently, Joanne’s experience to help families navigate a delicate piece of the ALS experience - genetic testing.
As a genetic counselor at Synapticure, I walk through an individual’s medical and family history to help determine the most appropriate testing approach. With a goal of ensuring that all families who want genetic testing have access, I hold hope that the genetic testing we help families pursue will bring clarity to the mechanisms behind the excruciating challenges of living with ALS. The Latin verb, Probare, means to test or to prove. In order to make the best cinnamon rolls, the dough must prove (rise). Through genetic testing, let’s lead the charge on moving toward a better understanding of this awful diagnosis…because without understanding there can be no cure.
(Written in loving memory of Barbara “Barb” Weible and Joanne “JoJo” Kurteson)