A family many in the community will recognise after last week’s Mother’s Day story about Leni and her mum Emily meeting Jesy Nelson is now at the centre of a recent ITV News interview, as they speak about Leni’s MPS III diagnosis and the challenges they face in accessing the treatment she needs.
“We were a little nervous about sharing Leni’s story on ITV News,” Emily explains. “It felt very exposing to share something so private on such a large national scale, but we knew this was an amazing opportunity to raise awareness for Sanfilippo Syndrome (MPSIIIB) and the entire MPS community.”
“The ITV News team were incredible and showed us nothing but kindness, compassion and professionalism. They got to know Leni and took the time to understand her condition and the challenges we are facing - many of which are the same across the entire rare disease community. We discussed the impact of Leni’s diagnosis, the Childhood Dementia initiative, and the race against time to get Leni and so many like her access to treatment.”
The story of Leni, who has MPS IIIB Sanfilippo, highlights the devastating reality faced by families affected by childhood dementia – a term that remains poorly understood and rarely used despite its profound impact.
In response, the MPS Society is calling for urgent national action to recognise childhood dementia as a serious and distinct group of conditions. Affecting children with more than 145 genetic disorders, childhood dementia leads to the progressive loss of memory, speech and mobility, and ultimately, premature death. Many families are left isolated and unsupported, often navigating fragmented care systems and limited professional awareness.
The MPS Society are urging the consistent use of the term “childhood dementia” to improve understanding and diagnosis, alongside the development of coordinated care pathways and equitable access to emotional, financial and practical support. Families frequently report being forced into the role of care coordinators while coping with immense emotional strain.
Leni’s case also underscores the need for reform of newborn screening in the UK. Conditions such as MLD and SMA – and potentially other lysosomal conditions – can benefit from early intervention, but only if detected at birth. The UK currently screens for fewer conditions than many comparable countries.
As Emily points out in her interview, early intervention is critical.
“Early treatment is key for these children. The damage cannot be reversed once it’s done,” she said.
“If she has to wait six months, that could mean she can no longer talk. If she waits 12 months, that could mean she loses the ability to walk.
“It’s extremely frustrating because the science is there. The data is there. It’s proven to be effective, and yet we cannot access it.”
Bob Stevens, Group CEO of MPS Society, adds:
“Every year, babies in the UK are being diagnosed with devastating but treatable rare diseases far too late. We have the science, we have the tests, and in many cases, we have effective therapies, but without newborn screening, these children are denied their only chance.”
As part of the ITV News feature, expert Brian Bigger discussed promising developments in gene therapy for MPS IIIB.
Emily adds: “We are hoping that by raising funds and awareness we can help to make this gene therapy a reality for Leni and other children with MPS IIIB in the very near future.” She continues, “We will keep pushing for Leni and for the entire community.”
The Society, alongside partner organisations, is calling for children to be included in national dementia strategies, increased investment in research, better professional training, and a coordinated national care framework, warning that families “cannot continue to navigate this alone.”
Leni’s story is not an isolated case but part of a wider, urgent crisis that demands immediate attention from policymakers and the healthcare system.
