Girl’s life saved by pioneering study of rare diseases

Answers came when Jaydi was four years old.

The detailed analysis of her DNA found she had lig-4 syndrome. It is caused by a mutation that affects the body’s ability to repair DNA damage and had only been documented a handful of times before.

“The penny dropped, it all made sense,” says Lisa.

The diagnosis connected the primordial dwarfism, the development delays and what was happening in her blood.

For Lisa, the diagnosis ended years of searching for an answer. For clinicians, it meant they could compare Jaydi’s notes with other cases of lig4 from around the world.

“As doctors, particularly at a time we were trying to understand her bone marrow tests, it meant we had an explanation and knew what to do about it,” said Dr Kivuva.

Children with lig-4 syndrome were at an increased risk of aggressive and hard to treat leukaemia.

Rather than wait for that to happen, Lisa and doctors agreed an immediate bone marrow transplant could save Jaydi’s life.

It involved Jaydi and Lisa staying in a sterile room for six months because of the risk of infection but Lisa says it was worth it.

She says: “The bloods are all back to normal, she’s back to school, she’s running round like a crazy child and she’s really happy and healthy at the moment.

“I think if we hadn’t got that diagnosis it would have been too late… it saved Jaydi’s life.”

She says Jaydi is full of energy, loves singing and dancing and is currently going through a fake nails phase.