Matteo's Story: The Importance of Newborn Screening

Описание: Matteo lives with a genetic condition called Hurler disease, also known as mucopolysaccharidosis (MPS) type I-H.

With diseases like MPS I-H, it’s crucial to diagnose newborns early before the disease can progress irreversibly. Currently, only Ontario has MPS I on its newborn screening panel — an addition only recently implemented in July 2020. That means for children born in Quebec like Matteo, newborn genetic screening for metabolic diseases isn’t available, and the opportunity for an early diagnosis might be missed.