Jean Swidler: Fighting for the Needs of ALS-Related Gene Carriers

When we talk about ALS, we often make a distinction between types of the disease: 90% of cases appear to be sporadic – meaning there is no family history of the disease. The opposite is true of the other 10% – known as familial ALS or genetic ALS. In these cases, the disease can sometimes be traced back in a family for generations. 

Behind this phenomenon are a number of inherited mutations in genes with names like SOD1, FUS, C9orf72. With the advent of widely available genetic testing, people with a family history of ALS are now able to find out if they carry these mutations – and are thus likely to develop the disease.

When Jean Swidler was a child, she lost her grandmother to ALS. Then as, an adult, her mother was diagnosed with the disease. Eventually, Jean herself underwent genetic testing and discovered that she carries the C9orf72 repeat-expansion mutation. 

Since then, Jean has become a tireless advocate for asymptomatic carriers of ALS-related genetic mutations. Today, she joins us to talk about her story, her advocacy, and how she believes the medical and research establishment could be better serving people in her situation. 

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