County Durham's only child with genetic condition NKH

Sofia Churchman is the only person in County Durham with the genetic metabolic disorder Nonketotic Hyperglycinemia (NKH) and one of only 30 in the UK.

NKH sufferers cannot make an enzyme needed to break down glycine so their growth and development is severely affected.

Toxic levels of the amino acid build up in the blood, brain, spinal fluid, organs and tissues causing serious issues including brain damage, seizures and muscle weakness and most sufferers do not survive toddlerhood.

The 22-month-old has a mild version of NKH and though there is no cure she takes 11 syringes of medication throughout the day to help with the symptoms.

She cannot sit up unaided, crawl or walk and is waiting for a tube to be fitted to administer the medication and a blended diet directly into her tummy.

Sofia is a fighter and every day brings new challenges and new milestones met.

Her parents Jonny and Ashley, from Heighington, near Darlington, treasure every day with their daughter and when Mr Churchman is not working, as a retail manager at The Works in Bishop Auckland, they squeeze as much fun as they can out of life – with aquarium trips a particular family favourite.

Mrs Churchman said: “Sofia is a fighter and every day brings new challenges and new milestones met.

“She is the happiest little girl in the world.

“She is always giggling and inspires me every single day.”

When she was just a few weeks old, Sofia was taken to hospital because she was losing weight and the couple were concerned that she was too sleepy and her legs were shaking.

Medics initially reassured them she would grow out of but she began to have cluster fits and was diagnosed with epilepsy.

Mrs Churchman said: “By three months she was having up to 60 seizures a day and I texted our seizure nurse who said I should pack a bag, go to hospital and not leave.

“We ended up at the RVI in Newcastle having tests, and after a lumber puncture she was diagnosed with NKH at four-months-old.

“It was the worst time of our lives.

“We spent a month at the RVI and the staff were lovely, we were both allowed to stay at night, but I don’t think they thought she would leave the hospital.”

Sofia attends the Conductive School of Life in Darlington for holistic education and is working on her head control, balance and taking steps with support.

The family wants to raise awareness of special needs, Sofia’s condition and the charity Joseph’s Goal which funds research into the disease, on NKH Day on Sunday, May 2, 2021.

Mrs Churchman, 33, said: “She has massively improved with her core strength this year since we started attending fortnightly one-on-one sessions and has been seizure free for 16 months.

“I didn’t go back to work in retail so I can care for Sofia, it is tough to have a poorly child and having special needs means everything is harder and more expensive which doesn’t seem fair but we love Sofia so much and everything we do is for her.

“The Angel Trust kindly gave us a special swing which was nearly £450, a normal kids’ swing would be £50.

“It has also made us stronger, everything is magical in our house because we want Sofia surrounded by love, magic and positive vibes.”