Rare gene disorder means little Noah turns blue in water

Elisabeth and Alex with Noah,  Thomas Yaxley ands Harrison Essex Picture: Portsmouth Hospitals NHS Trust/Solent News
Elisabeth and Alex with Noah, Thomas Yaxley ands Harrison Essex Picture: Portsmouth Hospitals NHS Trust/Solent News
Have your say

The mum of a boy who turns blue in water because of a rare disorder that means it could be fatal for him dreams of being able to bath her son.

Noah Yaxley changes colour when water touches his skin and suffers seizures because of a rare chromosome abnormality.

He was 11 months old when his mother Elisabeth Yaxley-Potter was bathing him and he suddenly turned blue for the first time.

The terrified 38-year-old rushed him to hospital but baffled doctors had no idea what had caused the ‘puzzling’ adverse reaction.

Then when the same thing happened the next day, medics investigated and found it was the result of an unusual chromosome disorder.

The condition, which means Noah’s immune system is very weak, only affects 200 children in the world and can manifest itself in a variety of ways.

In Noah’s case, water causes his heart rate to drop so rapidly that he turns blue and suffers seizures that put him at risk of cardiac arrest.

It means Elisabeth can’t let him out in the rain and she has to be at the hospital to bath him or clean him at home using a squeezed out sponge.

Little Noah, now 16 months, also suffers with epilepsy that is triggered by a change in temperature, so he has to be kept warm.

Doctors are still researching to find out more about his rare condition, but Elisabeth is hopeful for answers.

And she’s been encouraged by an improvement in Noah’s vision – as he was born blind but can now see with the help of glasses.

Mother-of-five Elisabeth, of Portsmouth, said: ‘It’s been hard because I just want to be able to bath my son, like a normal mum.

‘Bath time has always been a big part of the routine I have with my other children and suddenly from 11 months that all changed.

‘I was due to go out with a friend, but I nipped home to get Noah ready and suddenly he began fitting and turned blue in the bath.

‘It was terrifying and I just felt so helpless as I had no idea what was happening.

‘Eventually he was diagnosed with the disorder, although it’s so rare that the doctors don’t know what the future holds for Noah.

‘But his eyesight has improved so much already and we are hopeful that there will be more positive developments to come.

‘Still, he is such a happy little boy and you’d never know there was anything wrong with him. He’s our little Superman.’

Married Elisabeth first rushed Noah to hospital in September when he suffered a seizure in the bath and suddenly turned blue.

She returned the next day with her plumber husband Alex, 31, after it happened again.

Doctors carried out a series of tests at the hospital and later found the reaction was a result of a chromosome deletion known as 1Q44.

Elisabeth, who has four other sons aged between 21 and five, said: ‘I can only wash Noah at the hospital because the water could cause his heart rate to drop by half, so it’s far too dangerous to risk doing it at home.

‘His feet are the most sensitive to the water, so we have to keep those very dry.

‘But every day we are finding out more and we hope get more answers in the future.’

Elisabeth’s optimism is spurred on by Noah’s improved eyesight.

She said: ‘His eyesight has dramatically improved. Now he can see with the help of glasses.

‘It’s an incredible change and it’s lovely to see him smile at me now.’

Elisabeth and her family are raising money for the Queen Alexandra Hospital in Cosham, which cares for Noah.

They hope to make £2,500 to pay for an Optiflow machine, which provides oxygen support youngsters with breathing difficulties.

Consultant paediatrician Dr Roy Sievers said: ‘We are very grateful to Noah’s family and friends for choosing to support us.’

Donate at crowdfunding.justgiving.com/Noahs-charity-event