North Derbyshire family raising awareness of rare incurable genetic condition after shock diagnosis for their two-year-old daughter

Haylee Dolley who has been diagnosed with a rare genetic disease called neurofibromatosis type 1.
Haylee Dolley who has been diagnosed with a rare genetic disease called neurofibromatosis type 1.

A north Derbyshire family is raising awareness of a rare incurable genetic condition after their two-year-old daughter was unexpectedly diagnosed with it.

Little Haylee Dolley, of Holmewood, has neurofibromatosis type 1 - a condition caused by a faulty gene that causes tumours to grow along nerves. The tumours are usually non-cancerous but can cause a range of symptoms.

Fiona and Dan Dolley with their daughter Haylee.

Fiona and Dan Dolley with their daughter Haylee.

Haylee’s dad, Dan, 27, had unknowingly lived with the condition for all his life and was only diagnosed when his daughter was found to have a mark on her chest.

Her mum Fiona, 27, took her to her GP and was then taken to Sheffield Children’s Hospital following a referral.

“Haylee is doing very well now, she has really come on in the last few weeks,” Fiona said.

Asked when they might consider telling Haylee about her condition, Fiona added: “We have thought about it but not when and where and how.”

Symptoms for neurofibromatosis, known as NF1, include pale, coffee-coloured patches (café au lait spots), soft, non-cancerous tumours on or under the skin, clusters of freckles in unusual places – such as the armpits, groin and under the breast and problems with the bones, eyes and nervous system.

In half of all cases of NF1, the faulty gene is passed from a parent to their child. Only one parent needs to have the faulty gene for their child to be at risk of developing the condition.

If either the mother or father has the faulty gene, there’s a one-in-two chance that each child they have will develop NF1.

There is no cure for NF1, but people can still live full and reasonably healthy lives.

“It is more about managing it,” Fiona said. “We just have to get on with it for her sake if anything.”

Haylee has developmental delay – but that is nothing unusual for someone with her condition. It has not stopped her going to nursery or learning to walk.

Fiona is encouraging anyone who suspects they or their child may have the condition to push for a hospital referral.

Fiona is currently 24 weeks pregnant with their second child and couples with a history of NF1 can have a test during pregnancy to find out whether their newborn will have the condition – but Fiona said she fought hard against having the test as she says there is risk of a miscarriage and that the results won’t matter to them because they will love their baby no matter what.

For more information, visit nervetumours.org.uk.