Sangamo Announces ASGCT 2024

Trevor’s Story
Prion Disease

Prion disease is a family of progressive neurodegenerative disorders that impairs brain function, including memory, personality, behavior, intellectual function and movement. Typically beginning in adulthood and progressing quickly, there is no cure for prion disease and it is always fatal.

Between 10 and 15 percent of all cases are caused by mutations in the PRNP gene. Because mutations can run in families, these forms of prion disease are classified as familial. Familial prion diseases, which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI).

Trevor knows what CJD can do to a person. Trevor’s mom, Sue, was diagnosed with fCJD in February 2013. He describes it as “Alzheimer’s mixed with Parkinson’s, then sped up. It is the mind and body breaking down. It’s usually fatal with a year of the first symptoms.” For years, Sue owned a pack, print and ship store. She loved designing business and greeting cards, helping customers with their business needs. As a small business owner, she managed the inventory, accounts and billing. She retired in 2012 to travel and spend more time with her grandkids. In October 2012, her family started to notice unusual changes in her behavior. She struggled to accomplish seemingly routine tasks, like balancing her checkbook. For an organized woman who ran her own business, it was cause for concern. In a few short months, Trevor’s mom struggled to walk on her own. The progression of symptoms was shocking, but no one had answers. In January 2013, Sue went to the University of Florida Hospital for a weeklong series of tests. Every test came up negative; she returned home without a diagnosis. fCJD continued to rob Sue of the person she was. Her family was devastated, and they continued to look for answers. A doctor spotted an unusual diagnosis on her father’s death certificate. Cause of death: CJD. It was rare to see CJD on a death certificate at the time. Little was known about it, and there were no definitive clinical tests. Based on family history, Sue was tested for fCJD. At the time, her family didn’t know fCJD had a genetic link. Sue tested positive for the E200k mutation. Trevor recalls, “At that point, I knew her diagnosis was a death sentence. In the two weeks between the blood test and results, she went from using a walker to using a wheelchair. Her speech and memory declined rapidly. “My mom’s mind and body were in a race to see which could deteriorate more quickly.” Trevor’s mom passed away on April 21, 2013; six months after she couldn’t balance her checkbook.

Sue’s last words to Trevor, “Fight for me.” Trevor didn’t know how he could help the fight… He knew he had to honor her struggle and shine a light on this devastating disease. For Trevor, a TV producer, a documentary was the best way to do that. Over the next six months, Trevor immersed himself in CJD. He met with experts, participated in clinical research, interviewed patients and families, attended CJD Family Conferences and lobbied Congress. Trevor wrote and produced his award-winning documentary, “One in a Million.” CJD is a rare disease; about one in a million people are diagnosed each year. Trevor’s documentary, a poignant tribute to his mom’s spirit, gives a collective voice to the fCJD community. While researching the CJD documentary, Trevor decided he had to know if he carried the gene. He was tested for fCJD.

Genetic testing is a controversial topic in the fCJD community, even among family members of fCJD carriers. As Trevor explains, “For some, if there is no cure, do you want to know your fate? It’s the ultimate TMI: too much information. If there’s nothing they can do about it, why know? For them, that is the right decision.” For others, like Trevor, he couldn’t imagine living with that question unanswered. He knew he had a 50% chance of inheriting the gene. Not knowing and worrying if he had the gene was far worse than knowing he did. Trevor tested positive, a relief and a heartbreak all at once. Trevor believed all along that he carried the gene; the test just confirmed it. The news heightened Trevor’s appreciation for each day, for the moments lived. As Trevor puts it, “I’m not waiting for someday if I don’t know if I’ll make it to someday. So, instead of postponing that vacation, I take it now. Living with a fatal disease, my focus is quality of life, not quantity of life.”

Trevor tempers his ‘enjoy now, pay later’ attitude with his work to be a voice for the CJD community. As a CJD Foundation board member, he strives to fulfill his promise to keep fighting for his mom. He knows what is waiting for him. He participates in clinical research, hoping for innovative treatments that will cure or at least delay the onset of fCJD.