A baby is one of just 23 in the world diagnosed with a rare genetic disease – after doctors spotted his eyes were cloudy at birth. Little Tommy Parry, four weeks old, had a bit of trouble breathing when he was born and doctors noticed his eyes were cloudy.
They initially thought he had cataracts but, when a scan revealed his heart muscle was bigger than it should be, he was referred to Great Ormond Street Hospital at two weeks old. There he and parents Chantelle Doran, 30, and Tom Parry, 33, had genetic testing and on February 6, 2025, they were told he had a rare mitochondrial gene – so rare it has no name.
It means his body isn’t producing the energy to make the heart pump and for the brain to work. The parents have been told there is no more doctors can do – as they discovered all 22 babies previously diagnosed with the same gene have passed away before two months old.
The family are desperate for a second opinion and to raise awareness for future treatments. Chantelle, who works at a nursery, from Hemel Hempstead, Hertfordshire, said: “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.
“His body isn’t producing the energy to make the heart pump and for the brain to work. But he opens his eyes, he moves his legs.
“I’m struggling to understand it when his eyes are wide open. He’s been fighting from the start.”
Chantelle had a smooth pregnancy and was delighted when she welcomed Tommy on January 8, 2025, weighing 6lbs 1oz at Watford General Hospital. She said: “When he was born he was having some trouble breathing.They helped him out.They noticed his eyes and that they were really cloudy.”
Tommy was taken to the neonatal intensive care unit and he continued to be monitored. Doctors ran scans and discovered his heart muscle was bigger than it should be.Chantelle said: “His heart wasn’t pumping as well as it should be.
“He had a bit of fluid around the heart. They said it could get better on its own.”
But when his breathing problems got worse they re-ran the scans and saw there was more fluid around his heart. He was then referred to Great Ormond Street Hospital.Chantelle said: “They took us to a room and said he is very very ill.They said he’s not going to make it past the next two days.”
But their son fought on and Chantelle, Tom and Tommy all had genetic testing to try and figure out what was wrong. On February 6, 2025, they got the news that Tommy had a rare mitochondrial gene – which neither parent had – which is impairing the energy in his body.
He also has an undeveloped brain – caused by his extra gene. 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.”
Chantelle says they have been told there is nothing more that can be done and said they’ve been advised to turn off his ventilator. 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. He’s not been given a chance.”
The family is hoping to get a second opinion to try to find some treatment or help for their son. They also want to raise awareness for an earlier diagnosis or research to help future children and families.