Newborn screening helps identify medical disorders often before symptoms arise, helping health professionals begin effective treatment shortly after birth.  The federal government currently recommends screening for 32 disorders which are implemented state by state, but in order to be recommended for screening, a disorder must:

  • Represent a significant health problem;
  • Have a cheap and accurate laboratory test;
  • Have existing and effective treatments; and
  • Be capable of screening and followup by states, doctors and other care providers

These standards create a paradox for certain rare diseases such as Fragile X. We need more data on the effectiveness of screening and treatment before we can recommend a disorder be included in the standards, but we cannot obtain that data without more screening.

That is why JMF is funding the Early Check special initiative with our partners at RTI International. Early Check aims to collect information on currently unscreened rare disorders by asking families to participate in expanded testing on a voluntary basis. With a pilot program in North Carolina, we can obtain the data needed to revolutionize the standards for screening and early treatment of developmental disorders, and improve the process for including these disorders in standard screening requirements.

Providing early testing and treatment for more rare disorders will improve the lives of tens of thousands of families across the country.