A MUM has spoken of her relief after years of searching for answers about her son’s complex medical conditions.

Five-year-old James Fragle was diagnosed as autistic but mum Ashleigh Dobson, 29, always had a feeling he had a more complex condition.

The Walney mum was correct and after a couple of years of waiting for genome analysis, the Sandside School student was diagnosed with Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS), which is currently known to affect around 250 people worldwide.

“It is a nice relief to get that diagnosis as I have had doctors and specialists agree there is more to his condition than autism, but they had no answers," she said.

“We are lucky that it took as long as it did as some don’t find out for 10 years if they even find anything at all."

She explained his difficulties started from around six-months-old.

"He was unable to be weaned and tolerate solid foods, he would gag and choke,” said Ms Dobson.

“He didn’t walk until he was two and a half years old.

"James has had numerous tests, seen multiple specialists and at the age of three was given a temporary autism diagnosis and DNA samples were given to the 100,000 Genomes Project in Manchester to check for rare genetic conditions."

She said developmentally he is around the age of four even though he is almost six.

“He has special boots to help him walk and he is completely unaware of when he needs the toilet, so he is still in nappies," she added.

"Despite all this he is one of the happiest boys you will ever meet."

She added: “We want to go across to Houston where the people who discovered this syndrome are as I want an idea of what the future looks like for us.

“I really want to know whether I will ever hear him speak.”

This rare neurodevelopmental syndrome is caused by a mutation in the EBF3 gene on chromosome 10q26.

EBF3-related HADDS generally affects the nervous system, muscle tone, speech, and general development.

The syndrome was discovered in 2016 by Dr. Hsiao-Tuan Chao, Dr. Michael Francis Wangler and Dr. Hugo Bellen of Baylor College of Medicine in Houston.

In a bid to raise money for the HADDS Foundation the mother and son will be doing a marathon over the course of a week.

The money will be put towards medical research and travel grants to get those with the condition over to Texas to see those who discovered it.

lVisit www charity.gofundme.com/o/en/campaign/team-james13