A growing advocacy for newborn screening has emerged following the heartbreaking experiences of families affected by Metachromatic Leukodystrophy (MLD), a treatable genetic condition. Parents, healthcare professionals, and advocacy groups have been steadily protesting, petitioning, and pressuring the UK government to respond. Their goal is for the National Screening Committee to add MLD to the newborn screening program. This new program has the potential to make early detection a reality, meaning children who have been exposed can receive life-saving treatment before symptoms develop.
MLD is a devastating, rare, genetic disorder. It results from a lack of a specific enzyme that leads to the accumulation of fatty materials in the body, damaging the nervous system. Even the odds of carrying the genes for MLD are 40,000 to one against. This doesn’t happen unless both parents are carriers of the gene. At the same time, each pregnancy has a 25% risk of transmitting this heartbreaking disorder to a child. As with other diseases, the urgency of early detection stems from the fact that treatment is surest when it’s given before symptoms appear.
Libmeldy, the one-time treatment for MLD, has received a lot of recent buzz. That makes it the world’s most expensive drug, costing about £2.8 million. Thanks to this revolutionary therapy, we can stop MLD in its tracks and give affected children the chance to live long and healthy lives. The first use of Libmeldy in the UK in 2023 became a historic milestone in advancing pediatric medicine. Teddie’s story would have been an excellent success story. Due to his treatment, he experienced a stop in the advancement of his symptoms.
Even with these advances, families are still experiencing the negative impact of late diagnoses. Emily, a mother of a daughter Lily who lives with MLD, shared her pain that early screening was not possible. “The only way we could have saved Lily would have been to know she had MLD before it started to take effect,” she said. Her feelings mirror those of countless families who watch their children suffer from this life altering illness.
In October 2023, researchers started a new multi-site study to test more than 100,000 newborns for MLD and these other conditions. This joint effort underscores the growing recognition of the critical need for comprehensive newborn screening. The United Kingdom’s National Screening Committee is actively reviewing evidence to possibly set up a screening program for MLD. Alex TLC, an advocacy organization, serves families affected by leukodystrophies such as MLD and adrenoleukodystrophy (ALD). Further, they are actively pushing for this change!
Karen Harrison, a spokesperson for Alex TLC, who provide support to patients with rare diseases, explained the emotional and financial burden this places on families with children who MLD. “Treatment is expensive, but so is the financial cost of caring for these children for the remainder of their lives,” she noted. She highlighted the tragic toll that MLD takes. We’re talking about young children who are dying in the most awful circumstances—” she continued, “and who suffer some of the most extreme symptoms in the world while they are alive.
Josh Dean, a second advocate for screening, pressed for immediate government action. “I would urge the government, the NHS and the UK National Screening Committee to seriously consider adding MLD to newborn screening,” he said. He knows that establishing this screening would greatly reduce the risk for other children to suffer the same fate.
Emily reflected on her daughter’s vibrant personality before the onset of MLD: “She’s a beautiful girl, she was a bright little button, she had a wicked laugh.” However, she expressed her worries about what lies ahead for Lily: “We know there are so many more symptoms to come, that life will only get harder for Lily and that eventually MLD will take her from us far too early.”
Families similar to Emily’s are bringing fiery advocacy to this issue. They don’t just want better outcomes for their own children, they want to make sure that no one else has to go through the heartache that they’ve experienced. The collaborative advocacy reaction is a further testament to shared commitment for improved health outcomes. We are committed to giving every child born today the fighting chance they deserve against genetic disorders.
