Every child deserves the chance to grow, thrive, and live without suffering.

Help turn saVe the children into saFe children 

Rare genetic conditions like Metachromatic Leukodystrophy (MLD) and Mucopolysaccharidoses (MPS) are devastating, life limiting, progressive diseases caused by missing or faulty enzymes. These conditions are often not detected until symptoms appear - by then, irreversible damage has already occurred. 

Early diagnosis is necessary :

When these conditions are identified early, before symptoms begin, treatments and interventions can:

 • Slow or alter disease progression

 • Preserve physical and cognitive abilities

 • Give families time, choice, and hope

Yet in the UK, babies are still being missed.

MLD has just been refused :

Recently, the UK National Screening Committee made the decision not to add Metachromatic Leukodystrophy (MLD) to the newborn screening panel

They concluded the key criteria for screening are currently not met, which include : 

💙 Insufficient evidence on test accuracy and cut-off values for newborn screening algorithms 
💙 No direct evidence that early treatment following screening improves outcomes compared to treatment after symptoms appear 
💙 Uncertainty around cost-effectiveness of implementing screening at a national level

This decision is heartbreaking for families and campaigners, but there is still time to make a difference. Many conditions now screened at birth were initially refused, only to be accepted later after continued evidence, advocacy, and public support.

MLD will be reconsidered, and MPS conditions must be added next to the newborn screening programme. 

What is MPS and MLD ?

MLD and MPS are rare, inherited conditions caused by missing enzymes that damage nerves, organs, and tissues. Early detection through newborn screening can save children from irreversible harm by starting treatment before symptoms appear. Tests already exist, but they often don’t take place until symptoms appear. Early treatment not only improves outcomes but can reduce long-term healthcare costs. Both MLD and MPS meet the key standards for screening: accurate testing, effective early intervention, and cost-effectiveness.

What we, the rare disease community are asking for :

We call on the UK National Screening Committee and the Department of Health and Social Care to:

💙 Reconsider and continue evaluation of newborn screening for MLD, including further evidence reviews and studies
💙 Begin formal assessment of MPS conditions for inclusion in the newborn screening programme
💙 Commit to faster pathways for identifying missing enzymes in newborns, so treatment can begin before irreversible harm occurs

Finding a missing enzyme early can mean the difference between a child walking, talking, and learning, or possibly losing those abilities forever.

Why this matters

Without newborn screening:

Families face years of uncertainty and misdiagnosis
Children lose precious time that cannot be recovered
Treatments arrive too late to change outcomes

With screening:

💙 Lives are changed
💙 Suffering is reduced
💙 Futures are protected

This petition is about saving time, saving function, and saving futures.

Please sign to support:

💙 Children not yet diagnosed

💙 Families who deserve answers earlier

💙 A fairer, more forward-thinking newborn screening programme in the UK

Save Rare Children today — so they can be Safe tomorrow.

A little from me : 

I live with a rare condition myself (MPS VI), i was lucky enough to get diagnosed at age 4, but I understand the cost of late diagnosis. Being diagnosed with a rare condition is heartbreaking, but finding out late is even harder. When enzymes are missing, time matters. Every delay means damage that cannot be undone. Newborn screening could give children the chance many currently don’t have - a chance to be identified early, treated sooner, protected from avoidable harm. And everyday things people take for granted - walking, talking, making friends, education, and much more. 

In my opinion, it is madness to let cost-effectiveness decide something that directly impacts patients quality of life — many suffer from these so-called ‘rare’ conditions, they’re just not talked about, speaking up helps make them a little less rare.

A lot has been done behind the scenes in the hopes to make change but no one’s got very far yet - I am approaching this from the perspective of patients lives and lived experiences, not from a clinical point of view, as I am not a medical professional, but someone with lived experience. 

Please sign to help us find the missing enzyme before it’s too late.