Today is the First International Neonatal Screening Day. Early diagnosis is of great importance for everybody with medical problems. For people living with a rare disease, newborn screening is often the only option to avoid damaging diagnostic delays.
Diagnosis in Duchenne
In Duchenne muscular dystrophy, the diagnosis is made on average at the age of 4,5 yrs. This is often years after parents have seen the first signs but did not get an answer from the clinicians they consulted. The World Duchenne Organization is developing information useful for our members to advocate for newborn screening in their countries through the Working Group for Newborn Screening for Duchenne. At a European level, WDO supports the Key Principles for Newborn Screening as recently published by Eurordis.
The International Society for Neonatal Screening (ISNS), in partnership with the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and with the support of the European Society for Immunodeficiencies (ESID), are pleased to announce the launch of the first International Neonatal Screening Day, which is held on June 28th, 2021.
On this first International Neonatal Screening day, newborn screening experts (ISNS), patients (IPOPI) and healthcare professionals (ESID) jointly call for an increased collaboration and discussions on this key preventive measure for the wellbeing of newborns and their families.
Why 28th of June
28th June has been chosen to commemorate the birth of Dr Robert Guthrie. Dr Guthrie introduced the paper blood spot card and a new assay to screen newborns for PKU in the United States in the 1960s. Dr Guthrie’s work and activities, and especially the paper blood spot card is applied universally in all screening programmes. It revolutionized the detection of children with inborn conditions, enabling the improvement of children’s health.
View the full press release by the European Medicines Agency.