Girl, 12, diagnosed with rare genetic condition following visit to Specsavers

A 12-year-old girl is on a diet 'stricter than vegan' after a routine eye examination led to her being diagnosed with a rare genetic condition.

Hallie Melling from Old Swan in Liverpool, was initially believed to have been suffering from dyspraxia because she was disorientated and always falling at school.

When school staff advised her 30-year-old mum Amy-Lea to get her eyes tested it lead to a referral to Alder Hey hospital where medics discovered she had Homocystinuria (HCU).

HCU is a metabolic disorder that prevents the normal breakdown of protein and can affect the brain, eyes, skeleton and the vascular system, Liverpool Echo reports.

Amy-Lea said: “Since 2015, they have had a heel prick test that babies get to get tested for it, but they didn’t have it when Hallie was born.

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“She’s had six years of this building up in her system and has had to face the consequences.

“When she was in reception school they said she had dyspraxia because she was always falling, not very good at PE and was getting disorientated.

“Then that led on to them telling us to get her eyes checked because she’s making up what the pictures are in the stories.

“So we went to a regular Specsavers appointment and got sent away with a sealed envelope to go to Alder Hey.”

The ophthalmologist described the effects the condition has had on Hallie’s sight as if her “eye was a trampoline and the supporting strings had been cut.”

Over a year, Hallie’s sight deteriorated to the point where her glasses prescription was minus 21, and eventually, the lenses in her eyes had to be removed.

After genetic tests, the results came back that Hallie had the rare condition HCU.

According to the NHS, it needs to be treated to avoid serious complications so Hallie will be on medication for the rest of her life and a restricted diet to limit the amount of protein she eats.

Amy-Lea said: “The only things she can eat unchecked are fruit and some vegetables.

“The rest is prescription food from the chemist and only 18 grams of natural protein a day.

“She could go to McDonald’s and get a veggie burger meal but that would add up of three-quarters of her daily allowance so we would have to keep her on prescription food for the rest of the day.

“She used to be a brilliant eater, she would go to her nan’s and eat liver and everything.

“Now her diet is more strict than a vegan diet.”

Amy-Lea said that when Hallie was first diagnosed in 2015 “it felt like a life sentence” but the way her daughter takes the condition has given her hope.

She said: “Within a year of going to Specsavers we were under ophthalmology, genetics and cardiology because it affects your heart.

“It also affects her visual memory and she has low bone density.

“We’re trying to strengthen her bones now because if she doesn’t use them they will become very brittle.

“When she was doing PE first at school after being diagnosed we were concerned but we were encouraged not to wrap her in cotton wool.”

She added: “It’s all down to Hallie. We were all doom and gloom at first but the way she deals with it makes us deal with it."