To ensure that we find as many children with rare diseases, and that we treat them with these life-saving medicines as early as possible, newborn screening is essential.
My daughter Megan was born in 1998. At age 15 months, she was diagnosed with Pompe disease. Back then, there were no treatments available. Today, treatments exist not only for Pompe but for many other rare diseases. To ensure that we find as many children with rare diseases, and that we treat them with these life-saving medicines as early as possible, newborn screening is essential. This is especially so given that we are on the cusp of a golden age of genetic medicine with the advent of gene therapies that may yield cures. What a tragedy and failure of leadership it would be for treatments and cures to exist, and children not to benefit, because we did not know they carried a disease until it was too late.
