The mum of a four-year-old girl was “shocked” after her daughter was diagnosed with a rare genetic disorder that means she cannot talk or walk.

Anaïs Heghoyan-Thomas gave birth to her daughter Arev at the start of the Covid pandemic and said she developed as expected for the first six months of her life.

But the mum, who lives in Mill Hill with her husband Roger, started to become concerned after she noticed baby Arev was “pale, had very little hair and wasn’t really interacting with people”.

At 18 months, Arev's condition deteriorated further, with her development appearing to go backwards as she stopped pulling and pushing things.

Basic genetic testing and blood tests came back clear, although mild autism was suspected and it was found she had very little Vitamin D and iron.

After being given supplements, Arev had more colour to her skin, her hair started to grow and she began to eat more, which reassured her parents.  

But by the age of two, she still could not crawl, walk or talk.

It was only after months of consultations and sitting on long waiting lists that Arev’s parents were finally able to secure a full genome test for their daughter at Great Ormond Street Hospital.

Anaïs said she had come to terms with the fact Arev probably had autism, so was “shocked” when she was finally told in August last year she actually had a rare genetic disorder with only 145 known cases in the whole world.

HNRNPH2, also known as Bain after one of the doctors who discovered it, is a brain development disorder which often results in developmental delay, intellectual disability, and seizures.

Times Series: Arev Thomas, 4, has been diagnosed with a rare neurodevelopmental disorderArev Thomas, 4, has been diagnosed with a rare neurodevelopmental disorder (Image: Anaïs Heghoyan-Thomas)

Anaïs said: “When we got the diagnosis, we were blown away because I’m afraid to say it’s heavy medically. It was very difficult.

“It is terrifying because if they had not done the test, we would have just accepted that it was autism.

“That could have been a potential nightmare because Bain comes with variable but heavy medical challenges.”

She explained that Arev’s condition means “she is not talking yet, only babbling” and that she needs a walker to move around.

Anaïs said that she felt “very down” in the initial months after Arev’s diagnosis, but that she has been able to learn more about the disorder recently.

Bain was only identified in 2016, meaning lots about the condition is still unknown, including its prognosis.

She now hopes to raise money for US-based charity The Yellow Brick Road Project, whose mission is to fund research to identify, understand, treat, and hopefully cure those impacted by HNRNPH2.

A fundraising “Sunshine Walk” (Arev means ‘the sun’ in Armenian) is set to take place this bank holiday Monday (May 6) in Mill Hill Park, starting at midday by the tennis courts.

Anaïs said: “I haven’t told everyone in my life about it, but I’ve told nearest and dearest and those are the ones who are going to be coming. I hope to raise as much as possible.”

She added: “Arev’s doctor recently said something very nice to me – she said don’t mourn the child you didn’t have, celebrate the child you do have.

“I keep trying to remind myself of that. I still don’t know what Arev is going to be able to do and I think that’s another horrible stress always.”