Tag

Genetic Illness

All articles tagged with #genetic illness

health1 year ago•5 min saved

Understanding Osteogenesis Imperfecta: A Guide to Brittle Bone Disease

Dr. Pamela Smith, a pediatric endocrinologist and metabolic bone disorder specialist at Phoenix Children’s Hospital, not only treats osteogenesis imperfecta (OI) but also has the disease herself. OI, also known as brittle bone disorder, is a genetic illness that leads to weak bones and other complications. Dr. Smith's personal experience with OI informs her approach to care, providing relief and understanding to patients and their families facing similar diagnoses.

via USA TODAY|

#bone-disorder-specialist #genetic-illness #health

health2 years ago•26 min saved

"Joy and Challenges: The Impact of Vertex's Cystic Fibrosis Drug on Patients"

Cystic fibrosis (CF) patients have long struggled with the debilitating effects of the genetic illness, which impairs breathing and digestion. However, recent advancements in CF research have brought hope to patients like Jessie Ulan. The development of the drug Trikafta, a protein-repairing medicine, has significantly improved the lives of CF patients by addressing the underlying cause of the disease. Trikafta has allowed patients to breathe easier, reduced the need for daily therapy and medications, and improved their overall quality of life. While challenges remain, the progress in CF treatment has brought joy and optimism to patients and their families.

via The Boston Globe|

#cf-research #cystic-fibrosis #genetic-illness