Opportunity to support new born screening
New born screening (NBS) has long been championed by AGSD-UK. Now we have an opportunity to get behind a larger national campaign in the UK.
With the potential advent of gene therapy, especially for GSD1 and GSD3, it becomes even more important than ever to have an early diagnosis. Too many of our members have experienced the frustration and despair of searching for many years to obtain a diagnosis. In some GSDs the average delay between first presentation and diagnosis is as much as 20 to 25 years.
NBS for Pompe becoming standard in the US
New born screening for GSD2, Pompe disease, is now standard in 20 states across America. This has been pioneered by Dr Priya Kishnani at Duke University in North Carolina and the New Born Screening Pompe Disease Steering Group.
The availability of an enzyme replacement treatment for Pompe disease makes early diagnosis crucial. This is especially important for infantile onset Pompe disease, in which delays of days or weeks before the start of treatment can result in a reduced quality of life.
US mothers’ experience of NBS in Pompe
We have more detail on our Campaining page. It includes some accounts from mothers in the US of their experience of new born screening identifying babies with Pompe disease.
NBS campaign supported by AGSD-UK
The campaign for new born screening in the UK is being pushed forward by Pat Roberts and the ArchAngel MLD Trust. They are working alongside Member of Parliament Nickie Aiken, gathering signatures for a petition. ArchAngel points out that babies born in other high-income countries are tested for up to 59 rare diseases, whilst in the UK they are tested for only 9.
You can help – support the NBS online petition
We encourage AGSD-UK members to visit Nickie Aiken’s UK Parliament web page for more information, where they can watch a two-minute video and also lend their support to the online petition.
Photo: Courtesy of NHS new born screening, which does not currently include any GSD.