Children ‘going blind and risk dying from cancer’ as doctors overlook crucial NF1 signs

  • Incurable condition neurofibromatosis (NF1) not checked for in infancy
  • Only around one in every 2,500 babies born in Britain has the condition 
  • But doctors, nurses and midwives are not looking for distinctive blotches 
  • They could identify cases early, but too easily dismiss signs as birthmarks

Charlotte Wace For The Mail On Sunday



Doctors overlook crucial early warning signs for the incurable condition neurofibromatosis, say campaigners

Children are going blind and risk dying from cancer because doctors overlook crucial early warning signs of a genetic condition, campaigners have warned.

Despite being more common than cystic fibrosis and being linked to a number of serious complications, the incurable condition neurofibromatosis type 1 (NF1) is still not checked for during infancy.

One in 2,500 babies born in Britain has the condition, but doctors, nurses and midwives are not looking for distinctive blotches that could identify cases early – or are simply dismissing them too easily as birthmarks.

NF1 is linked to multiple ‘cafe au lait’ (CAL) marks on the skin, and if children have six or more before the age of five, they are likely to have the condition.

However, a campaign to log such marks in the official Personal Child Health red book has so far been unsuccessful, despite a House of Lords Grand Committee last January concluding that ‘more needs to be done’ to improve diagnosis and treatment.

NF1, triggered by a genetic mutation, occurs spontaneously or is passed on to a child from a parent. It causes tumours and lumps to grow inside and outside the body.

It increases risks of blindness and cancer, and is also linked to learning difficulties and autism. Tumours behind the eyes are one of the biggest risks – but as all children known to have NF1 are given regular eye tests, this can often be caught early.

Former Holby City actress Rakie Ayola, who played nurse Kyla Tyson, told how her daughter Tansy, now 12, was in hospital with a chest infection four years ago when an AE doctor pointed out marks on her skin and suggested she undergo tests.

Rakie and her husband Adam Smethurst were unaware the CAL marks could have indicated anything serious. ‘If Tansy hadn’t had gone to AE and the doctor hadn’t seen the CALs, she might still not have been diagnosed,’ said Rakie, 48. ‘How many times had she been to a GP since she was born for childhood illnesses – and no one spotted it?

‘Getting these marks recorded in the Personal Child Record is a brilliant idea.’

Shay Fitzpatrick was six weeks old when a health visitor noticed CAL marks on his skin. He was soon diagnosed with NF1 and, aged four, a life-threatening tumour was spotted.

Unaware of the risks: Rakie and husband Adam with their daughters Tansy, left, and Shani

Shay’s mother, Lauren Garlic, said: ‘He had an optic nerve glioma, with a litre and a half of fluid on his brain. Surgeons operated that night. My son, who is now eight, has been so lucky. You hear of others who aren’t diagnosed until their teens.’

The risk of breast cancer increases fourfold in the under-50s with NF1 and mammograms are introduced earlier for those with the condition.

Vanessa Martin, of the Childhood Tumour Trust, has a 19-year-old daughter with NF1 and has made the campaign to raise awareness a central part of the charity’s work.

‘It’s so simple, but it could make such a difference,’ she said.

Dr Susan Huson, a consultant clinical geneticist at the Manchester Centre for Genomic Medicine, said she ‘fully supported’ the argument for including CAL marks in a child’s red book.


Most watched News videos

  • Dramatic moment machete attacker is arrested by German police

  • Spine-chilling moment ghost women trails man into taxi

  • Trump supporter goes on a racist tirade during NY subway ride

  • Strange phenomenon lights up the night sky over Miami

  • Moment ‘machete attacker’ appears to run away following incident

  • ‘You b*****d!’ Crowds shout abuse at attacker in Reutlingen

  • Shocking moment English-speaking man slaps Chinese man round face

  • Moment raccoon loses its rag when homeowner tries to remove it

  • Man films a card skimming device found on an ANZ ATM

  • Racist Trump supporter goes after woman during NYC subway ride

  • Injured man is carried on stretcher following attack in Reutlingen

  • German shepherd joins in with HOWLING wolves from Zootopia

Comments (82)

Share what you think

The comments below have not been moderated.

The views expressed in the contents above are those of our users and do not necessarily reflect the views of MailOnline.

Find out now