Tag

Genetic Mutation

All articles tagged with #genetic mutation

Brothers Turn Tragedy Into a Mission: 99.9% Dementia Risk Drives Global Fundraising
health9 days ago

Brothers Turn Tragedy Into a Mission: 99.9% Dementia Risk Drives Global Fundraising

Two brothers, Jordan (31) and Cian (26), both carrying a 99.9% risk of developing the same rare dementia that killed their mother, Geraldine, have launched the FTD Brothers foundation and raised about $4 million by performing extreme endurance stunts and building a social following of over 1 million to raise awareness and fund research. Their feats include the London Marathon carrying a 55-pound fridge, 33 marathons in 33 days, and other endurance challenges, as they push to build a lasting legacy as they confront the disease in the years ahead.

Tiny Sore Unmasks Aggressive Breast Cancer, Drives Preventive Surgery
health4 months ago

Tiny Sore Unmasks Aggressive Breast Cancer, Drives Preventive Surgery

A 43-year-old woman from Newcastle discovered a tiny sore on her breast in 2021 that was later diagnosed as stage 3 triple-negative breast cancer; after lumpectomy and chemotherapy, she learned she carries the PALB2 gene mutation and chose a preventive double mastectomy in 2022, highlighting the importance of early symptom checks and ongoing follow-up.

29-Year-Old Single Mom Faces Rare Alzheimer's Diagnosis
health1 year ago

29-Year-Old Single Mom Faces Rare Alzheimer's Diagnosis

Erin Kelly, a 29-year-old Australian single mother, has been diagnosed with a rare genetic form of early-onset Alzheimer's disease, inheriting the PSEN1 mutation from her mother. She is experiencing early symptoms and is seeking treatment options like Leqembi to slow progression, while also trying to protect her young daughter from the diagnosis. Her family has started a fundraiser to help afford treatment not covered by Australian public health services.