For many patients and caregivers with neurological diseases, receiving a diagnosis often triggers a complex series of emotions. And while it’s an answer that helps provide clarity, it’s not always the answer one wants to hear. This reality is especially evident when genetics are involved, as the decision to get tested comes with potentially life-altering outcomes – not just for yourself, but for your entire family.
Jeremy S. exemplifies this challenge. With the passing of his uncle and the gradual confirmation that a number of his family members carry C9orf72 mutations, which can lead to either amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD), Jeremy began looking into educational information around genetic ALS. His decision to get tested was deeply personal and, despite the results, he has shown great resilience and says that his biggest fear is failing to seize the day.
Jeremy’s Story with ALS
In 2015 Jeremy received news that his uncle had passed away from ALS. It was the first time a person in his family had been diagnosed with this disease, and while Jeremy was understandably bereaved, he assumed it was an isolated incident. Unbeknownst to Jeremy, however, his uncle had suffered from a form of ALS caused by a genetic C9orf72 expansion mutation – meaning that both he and his entire family would be at risk of inheriting the gene causing the disease.
Fast forward to 2019 and Jeremy received a distressing phone call. It was his cousin Jon, who explained that both Jon and Jon’s older brother Seth had been recently diagnosed with ALS caused by the C9orf72 expansion. Immediately, Jeremy understood that he was at risk and knew that he needed to get both himself and his mother tested. After receiving the results, Jeremy learned an unfortunate and devastating truth: they would become the fourth and fifth members of his family to test positive for the gene responsible for 20-30 percent of genetic ALS cases worldwide1.