Seven Mothers Unite in New York City to Solve Medical Mystery: ALS Geneticists at Columbia University Look to Mothers and Late Daughters for Clues to Rare Juvenile ALS

Seven teenage girls from across the country, aged 17 to 22, have died from ALS, a disease primarily affecting the middle-aged. For years, their mothers consoled and supported one another digitally through a Facebook group. On May 15th, 2018, they met for the first time in person in New York City for an emotional, informative, and potentially telling visit; researchers funded by Project ALS at Columbia University collected additional DNA samples and began to identify commonalities among the young women and their families.

“ALS is billed as a disease of middle age, which is misleading,” said Valerie Estess, director of research for the non-profit Project ALS. “The participation of these brave moms–in spite of the unthinkable tragedy they’ve endured– represents a new day in ALS genetics. Thanks to them, researchers have accessed new clues about a disease affecting people of all ages.”

As part of a larger study at Columbia University, Neil Shneider, M.D. and ALS geneticist Elizabeth Harrington trace new genetics clues back to their sources, identify families at risk, and devise new approaches for slowing and even stopping ALS.  Dr. Shneider and Ms. Harrington are now processing and analyzing samples and medical histories collected from each of the seven mothers, their daughters, and families; these samples represent unprecedented and significant additions to their study.

“In these cases, ALS begins early in life and progresses rapidly,” said Dr. Shneider. “…Mutations associated with these juvenile onset forms of ALS are so toxic that they are typically not passed on to next generations…but arise anew in individuals.  As a result, these severe mutations are very rare in ALS patients overall, and identifying these seven cases provides an extraordinary opportunity to…build model systems to develop new therapies for this and related forms of ALS.”

The seven mothers, hailing from Orem, UT, Springfield, MO, Medina, OH, Randleman, NC, Orange County, CA, Storm Lake, IA, and Bloomington, MN, reached out to Project ALS in April 2018 with hopes of becoming involved with the organization to spread awareness and participate in research; their outreach was a once-in-a-lifetime opportunity for ALS research.

“Connecting with the Project ALS team and seeing their commitment and passion for discovering a cure was inspiring. I was beyond thankful to meet these amazing moms and bring awareness to the fact that ALS strikes teens and young adults. I thank Project ALS for the opportunity to participate in ALS research and to honor our courageous daughters’ memories,” said Amy Steffen, whose daughter died from ALS at age 17 in March of 2018.

Read more about their stories, featured in The Daily Mail.