Northampton parents' plea over toddler with rare disease

The parents of a toddler with a rare disorder who was not expected to reach her first birthday want to raise £15,000 to make their home safer.

Eleni Shaw, of Wootton, Northampton, was diagnosed as a baby with an incurable condition that causes seizures and severe development delays.

Parents Eloise Latimer and Neil Shaw said it will cost £45,000 to adapt their home for their two-year-old.

"Looking after Eleni is like looking after a newborn," said Ms Latimer.

"It's taking Eleni up and down the stairs now because it's unsafe - if she seizures while we're carrying her up the stairs, there's a risk of dropping her or causing her harm.

"She has medication four times a day, she is tube fed so we have to do that every four hours - it's constantly having to do something.

"Just having a downstairs bedroom and bathroom, we can wheel her through the house and not have to pick her up if she's asleep to take her upstairs."

Eleni is one of 15 children currently in the UK and just 500 in the world with Non-Ketotic Hyperglycinemia (NKH).

It is a genetic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine.

This causes it to build up in tissues and fluids, affecting the brain.

While it is hoped a grant will cover £30,000 of the building costs, the couple have been given estimates of £45,000 for the work to their housing association home.

Ms Latimer, who has two other children, said the family was settled with a good level of support and would prefer not to move.

They have now raised more than £11,500 in just two weeks through their online fundraiser and said they were "so grateful" for all the donations.

Ms Latimer said the need to adapt their home was just the latest challenge they had faced since Eleni was diagnosed following an uneventful pregnancy and birth.

She said a midwife spotted Eleni wasn't well when she was three days old and they were admitted to hospital.

"We actually withdrew care to say goodbye - they brought a bed in for me to sleep next to her and she started breathing when they took the tube out," said Ms Latimer.

"They said she might die in 24 hours, it might be a week, she probably won't make her first birthday and we've now celebrated her second."

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