Newborn Screening Saves Life of Patient with Rare Metabolic Disease called Homocystinuria

Kristen runs to raise awareness for Homocystinuria and other rare diseases.

Kristin was diagnosed with a rare metabolic disorder called Homocystinuria (HCU) following the start of mandatory newborn screening in the state of Maryland. About 1 baby in 300,000 is born with HCU. HCU affects the body’s ability to breakdown an amino acid in protein. This […]

Control is an Illusion: PKU

Thankful for Life Guest Blogger: Kevin Alexander, MA This morning on my way to work I was almost in a very bad car accident. I was driving in the left lane on the interstate when a car veered into my lane. They obviously didn’t see […]

Twitter: Coming Together for Rare Disease


As a mom with a child with rare disease, I can relate to the needs of other parents and caregivers about raising awareness for their children.  Most of my blog entries are either about my son’s or other children’s rare disease, and my tweets on […]