For parents and family members, a diagnosis of Metachromatic Leukodystrophy, known as MLD, is devastating.
MLD is a genetic disease that progressively destroys the nervous system. Children born apparently healthy lose their ability to walk, talk, see, hear, swallow and eventually, to breathe. The majority of children with MLD in the UK do not live to see their fifth birthday.
However, since 2022, a National Institute for Health and Care Excellence (NICE) approved gene therapy has been available on the NHS. Studies demonstrate 100% survival rates in late-infantile patients treated with the therapy. That’s children playing, chatting and running, who otherwise would have died.
Crucially, treatment is effective at halting the disease, and saves lives if the condition is detected early. It cannot undo damage already done.
World-class treatment is delivered at the Royal Manchester Children’s Hospital, but it is essential that health ministers make the necessary changes so children can access this treatment in time.
Newborn screening is the only reliable way of diagnosing MLD before symptoms appear.
In the UK, we test newborn babies for 10 conditions as part of the ‘heel prick’ test, carried out soon after birth. Screening for MLD too would need no extra blood test, and would cost just 17 pence per baby. That’s 17 pence to save the life of a child a month here in the UK.
The newborn screening programme is incredibly important, and there is no doubt the UK has fallen behind. In many other countries, MLD screening is actively saving lives: Norway has screened over 80,000 babies this year. Sweden, Canada, Italy and the USA have all taken steps to start screening. More than a million screenings have been carried out worldwide.
I cannot understand why we do not screen babies for MLD too, just after they are born.
I raised this in parliament, asking that health ministers meet me to discuss a simple and inexpensive change: to add MLD screening into the heel prick test. It would cost less than £100,000 per year, offering children the early diagnosis and treatment they need to live.
The leader of the House of Commons acknowledged early diagnosis as “essential and … highly effective at halting the disease”. He said he would facilitate a meeting with health ministers to discuss this.
So my message to health ministers and the National Screening Committee is that an MLD test should be excluded no longer. This country has incredible medical expertise which has demonstrated this devastating illness can be treated. It’s vital we keep pace with medical and scientific advances.
Now it’s down to health ministers to explain why they can’t, or won’t, make this small change.
