A family diagnosis
In Chuck’s family, the awareness of hATTR amyloidosis started with his uncle Bill, who was on a mission to find out what was wrong with him. He called an Amyloidosis Center of Excellence, gave them his symptoms, and within a week saw a doctor who diagnosed him.
But the diagnosis did not stop there as Bill suspected others in the family should be tested as well. Bill’s sister, who is Chuck’s mom, was the next one who received a positive diagnosis. After his mother was diagnosed, Chuck went for testing and found out he was also positive for hATTR.
Out of 24 family members who were tested, 18 are positive—including two out of Chuck’s three sons and his two remaining siblings.
Hereditary ATTR amyloidosis (hATTR) is an inherited disease that often affects the liver, nerves, heart and kidneys. The disease is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. The amyloid deposits most often occur in tissues of the nervous system, heart, and digestive tract.
Chuck’s first symptoms were autonomic issues, such as nausea, vomiting and diarrhea, and he thought it was just part of getting older. But as he became more symptomatic, hATTR started to completely change his life.
A rare disease that robs its patients
Later, he developed additional polyneuropathy symptoms, such as pain in his hands and feet, loss of grip and dexterity in his hands, balance issues, stumbling and falling and tingling and numbness in his hands and feet. These symptoms got so bad he felt like he could not carry his grandchildren.
Active throughout his life, he enjoyed riding his bicycle, dancing, and racing motorcycles. But hATTR robbed him of what he loved.
His moment of YES
Chuck was just about to give up when someone from his support group told him to go to a meeting about Ionis’ NEURO-TTR clinical trial, which was designed to study the safety and efficacy of inotersen from Ionis. Inotersen is an antisense drug that was designed to decrease the amount of mutant and normal TTR made by the liver. Ionis believed that decreasing the amount of TTR protein would result in a decrease in the formation of TTR deposits, and thus slow or stop disease progression. Chuck met the criteria for the trial and began participation, and was excited at the potential to help those living with hATTR.
Since the trial’s completion and subsequent FDA approval, inotersen, now known as TEGSEDI™ has become available to treat patients like Chuck. With optimism for the future for himself and his sons, Chuck’s advice to anyone living with this disease is to face it with strength, and to be thankful that hope has been renewed for those living with hATTR.