Home / Health / HFI: Mum Fights for Newborn Screening
HFI: Mum Fights for Newborn Screening
13 May
Summary
- A mother campaigns for early detection of Hereditary Fructose Intolerance.
- HFI causes severe health issues, including liver/kidney failure.
- A trial includes HFI in newborn screening until 2027.
A mother from Somerset is leading a campaign for early detection of Hereditary Fructose Intolerance (HFI), a life-threatening condition affecting infants. Her daughter, Freya, experienced severe distress as a baby due to HFI, a metabolic disorder that can cause significant health complications.
HFI is currently included in a newborn screening study until 2027. Freya's mother, Dannie, is urging the Department of Health to make this screening a permanent part of the national neonatal program. She emphasizes that early diagnosis, which can be achieved through simple detection at birth, could prevent years of suffering and misdiagnosis.
This rare condition means individuals cannot tolerate fructose and related sugars, found in many common foods. Professor Tim Cox, a leading HFI specialist, estimates that 1 in 18,000 people are born with HFI. Without timely diagnosis, affected children can face severe health consequences, with some succumbing to the condition or suffering long-term organ damage.
