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Daughter's laugh stolen by rare disease
20 Mar
Summary
- Rare MLD disease steals child's laugh and mobility.
- Early detection via newborn screening could save lives.
- Family fights for MLD to be added to screening tests.
A family is grappling with the devastating diagnosis of infantile metachromatic leukodystrophy (MLD) in their six-year-old daughter, Nellie. This rare condition is progressively paralyzing Nellie and causing memory loss, with doctors predicting a life expectancy of only eight years. Her mother, Megan Gillett, expressed profound grief, stating that Nellie's laughter, once a source of joy, has been lost.
Nellie was diagnosed with MLD at two years old, a disease that slowly destroys the brain's ability to send messages. Doctors confirmed that if MLD had been identified earlier, Nellie could have been saved. This underscores the critical need for MLD to be part of the newborn heel prick test, a cause for which MLD charities are actively campaigning.
Navigating the healthcare system, Megan and her partner Tom faced delays and reassurances that Nellie was merely hypermobile. It wasn't until Nellie was 18 months old and still not walking, along with developing a squint, that a referral to a neurologist was made. A brain scan in April 2022 led to the terminal diagnosis in May 2022.
MLD causes dementia-like symptoms, leading to loss of motor skills, speech, and cognitive functions. Within three months of her diagnosis, Nellie lost the ability to move, talk, eat, or sit up. Her younger brother, Ozzy, was tested and thankfully found to be clear of the disorder.
Charities are advocating for MLD inclusion in newborn screening, as current NHS policy only tests siblings of affected children. Despite the immense heartbreak, Megan and Tom are cherishing their remaining time with Nellie, who, despite her condition, remains responsive and happy. The family is also raising awareness through social media and plans for a book.
Similar tragic stories, like that of Nala Shaw, highlight the urgency of early detection. Her sister, Teddi, diagnosed unsymptomatically, received life-saving treatment for MLD. However, Nala's condition was too advanced for treatment, emphasizing the crucial role of timely screening.
