The family of a young girl say her life was saved after a pioneering study was able to diagnose her incredibly rare genetic disorder, leading to better treatments.

Jaydi Hawker, 11, has a form of dwarfism which is thought to affect fewer than 50 people in the world.

There are thousands of such genetic disorders and, collectively, they affect one in 17 people in the UK.

Zaidi was part of a study pushing the boundaries of genetic analysis to help families get a diagnosis.

Disorders are caused by mutations in our DNA that damage vital instructions for how our bodies should work.

Parents and doctors will notice something amiss in a child’s development, but the cause – a specific mutation throughout our genetic code – is often elusive.

Jaydi’s mother Lisa Hawker says she first knew something was wrong when a pregnancy anomaly scan revealed abnormal brain development.

Jaydi was born at 31 weeks, weighed only 2 pounds (0.9 kg) and continued to grow and develop slowly.

“She was very small, smaller than a doll, even the doll’s clothes were too big,” says Seaton’s single mother in Devon.

Jaydi left the hospital a week before her first birthday.

Dr Emma Kivuva, a clinical geneticist at the Royal Devon University Healthcare NHS, says: “Despite being tube fed, taking in extra calories, she was not gaining weight and her growth was also delayed and we didn’t know what was going on. ” Foundation Trust.

A genetic disorder was suspected but no tests confirmed it.

Lisa says: “Didn’t know why he wasn’t growing, why his head was so small.

“It was really stressful, I blamed myself, did I do something wrong? Did I not eat enough or drink enough or wait too long in life? And you’re just driving yourself crazy without knowing.”

When Jaydi was about a year old, Dr Kivuva offered her a place in the Deciphering Developmental Disorders study.

The largest study to date of children with genetic disorders, it is a collaboration between the NHS, universities and the Sanger Institute, which specializes in analyzing DNA.

Years later it would provide answers but in the beginning Lisa and JD had to deal with the uncertainties of an unknown situation.

“She was in the hospital for so long, she didn’t even know I was her mother, with so many nurses taking care of her for so long,” says Lisa, trying to calm her daughter. Also tried playing hospital sounds.

Jaydi learned to walk and started nursery but is unable to speak and has problems seeing and hearing.

Lisa says that at one point “her entire face collapsed” and doctors thought she would need major reconstructive surgery to relieve pressure on her brain. Blood and bone marrow tests showed that Jaydi’s blood was as thin as water.

“Every day was like living with a ticking time bomb,” says Lisa.

The answers came when Jaydi was four years old.

Detailed analysis of her DNA revealed that she had LIG-4 syndrome. It is caused by a mutation that affects the body’s ability to repair DNA damage and has been documented only a few times before.

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

The diagnosis linked early dwarfism, developmental delay and what was happening in his blood.

For Lisa, the diagnosis ended years of searching for answers. For physicians, this meant they could compare Jaydi’s notes with other cases of LIG4 around the world.

Dr. Kivuwa said, “As doctors, especially at the time when we were trying to understand her bone marrow tests, it meant we had an explanation and we knew what to do about it. “

Children with LiG-4 syndrome had an increased risk of aggressive and difficult-to-treat leukemia.

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

JD and Lisa had to stay in a sterile room for six months due to 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 around like a crazy kid and she’s really happy and healthy at the moment.

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

She says Jaydee is full of energy, loves to sing and dance and is currently going through a phase of fake nails.

Lisa and Jaydi are among 13,500 families who have participated in the Deciphering Developmental Disorders study.

Previous analysis showed it identified 60 new genetic diseases and gave first-time diagnoses to 5,500 families.

The latest study, led by the University of Exeter and the Royal Devon University Healthcare NHS Foundation Trust, looked at whether getting a diagnosis makes a difference.

Result, Published in the open journal Genetics in Medicinefound:

• 76% families were given specific information about their situation
• In 28% of families, the diagnosis changed the way the disorder was managed medically.
• In 3% of cases, including JD, specific new treatments such as seizure medications or dietary supplements were required to manage the condition.
• 21% of families were now part of support groups
• 29% of families had advice about what the risks would be if they chose to have a second child

Caroline Wright, Professor of Genomic Medicine at the University of Exeter, said: “It is very gratifying to hear stories like JD’s, where genetic diagnosis is truly changing lives.”

Whole genome sequencing is now offered on the NHS for affected families and new parents are offered screening for 200 genetic disorders by testing the umbilical cord.

Professor Wright said this would allow more families to be diagnosed sooner and more disorders could be treated in the future.

“There are a considerable number of genetically targeted treatments in development and clinical trials, so I think the number of treatments personalized to individuals will increase greatly,” he said.

Jaydi’s long-term future is uncertain. Lig-4 syndrome may increase the risk of tumors in other parts of the body.

“We hope we have given him a better quality of life and a longer life,” Dr. Kivuva said.

Sarah Wynn, chief executive of Unique, the charity supporting families affected by rare genetic disorders, said: “This study has provided many families with an explanation for their child’s developmental delays.

“Many of these families have waited a long time to get these answers and are now able to better understand their child and their needs.”

Inside Health was created by Tom Bonet