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


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 results in high levels of homocysteine in the blood, and can cause some serious medical problems including dislocation of the lenses of the eyes which can severely impair vision, be linked to scoliosis, mental retardation, and blood clotting. Without treatment, one fourth of patients with HCU die as a result of thrombotic complications (heart attack) before the age of 30.

Treatment includes a very restrictive low protein diet that must be followed for life. For Kristin, so far the diet has been successful.

Kristin is an avid runner and participated in the 2012 Boston Marathon. She runs to bring awareness to HCU and other rare disorders. She always runs with H-ope (for a cure), C-ourage (despite her illness), and she is U-nstoppable!

To read more about her journey with Homocystinuria, check out her blog on running for rare diseases.

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