Overview
- The Forresters, who spoke to ITV News on Monday, asked ministers to fund places for UK children in a US clinical trial after their daughter Leni was diagnosed with Sanfilippo syndrome.
- Sanfilippo is a rare enzyme deficiency that causes toxic buildup in the brain and leads to progressive loss of speech, movement and cognition, with irreversible decline often starting around age three.
- Emily Forrester said early treatment is critical and warned that a six-month delay could cost Leni her speech and a 12-month delay could cost her ability to walk.
- University of Edinburgh researcher Brian Bigger said his gene therapy inserts the missing gene into blood stem cells but needs major government funding to move into clinical testing.
- The Department of Health and Social Care said it is improving rare-disease diagnosis and access to specialist care but did not commit funding, as Leni’s family fundraises and pushes for newborn screening for a condition estimated to affect about 240 UK births each year.