Reinstate Duchenne muscular dystrophy test, say parents
Parents with children affected by the muscle-wasting disease, Duchenne muscular dystrophy (DMD), say they will fight to get testing reinstated in Wales.
Screening to diagnose newborns was withdrawn at the end of November by the Welsh government on the grounds the test was no longer reliable.
Wales was the only country in the UK to screen for the condition.
Ministers say there was no immediate prospect of resolving several issues.
The charity Muscular Dystrophy Campaign says while it understands screening programmes are complex they want additional resources put aside to improve the accuracy of newborn screening.
And campaigns director Nic Bungay told BBC Radio Wales early diagnosis helps to delay the on-set of the condition with use of steroids and gives families the chance to decide whether to have other children and to plan for the future.
"Evidence from pilot studies in the US and Australia shows more accurate tests are possible and that's what we want to see happen not only in Wales but the rest of the UK," he said.
About 100 boys a year are diagnosed with the condition in the UK.
Most develop symptoms before the age of three, and between the ages of eight to 11, boys may become unable to walk.
There is no cure although steroids and physiotherapy can manage the condition.
Jeanette George's son Alex, two, has been diagnosed with the condition although he does not yet display any outwards signs.
The Cardiff mother said an early test was "hugely beneficial".
"It has allowed us to plan for our future," she said.
"We can move to a house that will accommodate Alex in his wheelchair.
"We can set money aside and we can take holidays now with our older children that we will not be able to take in the future," she said.
The Welsh government issued a statement in November saying steps to help clinicians would be developed to "minimise any risk of late diagnosis of cases and focus resources where they can produce most benefit".
Later this month an all-party group of politicians meet at Westminster to discuss introducing screening across the UK.
The Welsh government said the reasons for the cessation of the service were:
- The withdrawal of the bloodspot external quality assurance scheme and quality control material by the Centers for Disease Control (CDC) in the USA.
- Problems with the supply of commercially available reagents needed to undertake the test.
- The CDC quality programme was discontinued as there were not enough participants to support a viable scheme - only four laboratories worldwide participated.
- The lack of external quality assurance has meant that the Newborn Bloodspot Screening Laboratory cannot be accredited by the Clinical Pathology Accreditation (CPA).
A spokesman said: "There is no prospect of any immediate resolution to these issues, therefore a safe and reliable service cannot be provided.
"Other components of the Newborn Bloodspot screening programme are fully quality assured and will not be affected by this change."