Baby born with cloudy eyes is one of just 23 in world with rare genetic disease

The mum and dad of a baby with a genetic disease so rare it has no name have vowed to keep fighting for him after the devastating diagnosis.

Four-week-old Tommy Parry is one of only 23 in the world ever to be born with the mitochondrial gene, which impairs his energy and means his brain is undeveloped.

His family are now desperately searching for a second opinion after doctors said there was no more they could do to save their baby.

Tommy’s mother Chantelle Doran said: ‘He’s been fighting from the start.

‘We were told it’s just bad luck. We’re still hoping on hope.

‘They said there is no name for it at the moment as it’s so rare.’

Doctors first noticed something was wrong with Tommy within days of his birth on January 8.

The baby boy was having trouble breathing and his eyes were ‘really cloudy’.

Scans of the then two-week-old’s heart revealed his heart muscle was bigger than it should be and he was referred to specialists at Great Ormond Street Hospital.

Tommy’s parents Chantelle, 30, and Tom, 33, were told then their child would not survive two days, but he proved doctors wrong.

However after genetic testing, medics discovered Tommy was suffering from a rare genetic disease.

He has a rare gene which means his body is not producing the energy to make the heart pump and for the brain to work.

Chantelle said: ‘There have been 22 children in the world with it. Not one of them has survived longer than two months.

‘They said he wasn’t going to make it much longer.’

Tommy’s parents have been advised to turn off their ventilator, but they argue doctors are not ‘giving him a chance’ to survive.

The mum-of-three said: ‘He was on oxygen for two weeks. He did one day with nothing.

‘Now he’s on a ventilator they say that’s what is keeping him alive, but at one point he could breathe on his own.’

The devastated family are appealing for a second opinion which might lead them to treatment that would help their son survive the prognosis.

They also want to raise awareness for an earlier diagnosis or research to help future children and families.

According to Genetic Alliance UK, a rare condition is one that affects fewer than 1 in 2,000 people.

There are currently around 7,000 rare conditions, although scientists are regularly discovering new ones.

Seven in 10 rare conditions affect children, and more than three out of 10 children with a rare condition die before their fifth birthday.

Get in touch with our news team by emailing us at webnews@metro.co.uk.

For more stories like this, check our news page.