Too many children living with a rare disease do not have a diagnosis. Many families are experiencing a diagnostic odyssey taking many years and misdiagnoses. This can lead to lack of proper support for the child and family, and inappropriate treatments that might lead to life threatening situations. The World Duchenne Organization therefore has started a working group to advocate for newborn screening in Duchenne.
Diagnosis in Duchenne
Children with Duchenne, one of the more common rare diseases, are on average diagnosed around the age of 4,5 in the Western world. This means that right now, around 20-25% of Duchenne patients are not diagnosed yet although most children already show muscle weakness before their first birthday. Also delayed speech and behavioral difficulties can be observed at a young age.
Need for newborn screening
Several surveys among Duchenne and Becker Muscular Dystrophy families showed the need for newborn screening. Newborn screening is technically feasible as it has been proven by 17 pilots taking place between 1975 and 2011. Since then technologies have further improved. Currently, pilots are ongoing in China and New York. Another one is ready to start in Australia. At the moment, decisions about newborn screening are taken at a national level. However, Eurordis recently published the Key Principles for Newborn Screening. However, Eurordis recently published recently the Key Principles for Newborn Screening.
Many families are reporting that early diagnosis allows better planning or better parenting. With new treatments receiving regulatory approval, now is the time to address these challenges to ensure newborn screening for Duchenne and Becker MD can be put in place. This is a high priority for the World Duchenne Organization.
For this reason, the World Duchenne Organization started a working group on this subject. This multidisciplinary working group aims to create tools and resources for national patient organizations to advocate for newborn screening in their country.