One Family Speaks Up About Isolating and Rare Genetic Disorder


On our show this week, one courageous family is speaking up about an isolating genetic disease in order to promote education on the isolating condition for other patients and their families.

Hereditary ATTR (hATTR) amyloidosis is a rare condition that affects an estimated 50,000 people worldwide. Symptoms can affect multiple parts of the body, including the nervous (nerve), cardiac (heart), and gastrointestinal (digestive) systems.

hATTR amyloidosis is passed down through family members and is an autosomal dominant condition, meaning a person only needs to inherit one copy of the affected gene from one parent in order to develop the condition.

Although hATTR amyloidosis is a hereditary condition, some families may be unaware of a history of the condition in their family because the symptoms of hATTR amyloidosis can vary widely among people with the same mutation and even within families, though some do see a pattern of symptoms develop.

Different symptoms may appear at different times for each individual. The age that initial symptoms appear may vary, ranging from the mid-20s to the mid-60s.

Learn more about the family’s story in the segment below airing across the nation in this week’s episode of California Life.