Hertfordshire news: Baby girl diagnosed with rare disorder which ‘turns the body to stone’ | UK | News

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Lexi

Lexi was diagnosed with a rare disorder which ‘turns the body to stone’. (Image: Family handout/HertfordshireLive)

Little Lexi Robins won’t be able to have injections, vaccinations or dental work, and she will never have children, after it was found she has Fibrodysplasia Ossificans Progressiva (FOP) which affects one in two million people.

Shortly after Lexi was born on January 31, her parents Alex and Dave noticed that her big toes didn’t look right and she had little movement in her thumbs. After months of tests and apprehension, Lexi was diagnosed with Fibrodysplasia Ossificans Progressiva (FOP).

The life-limiting disease gradually replaces muscle and connective tissue, such as tendons and ligaments, with bone.

The condition can lead to bone formation outside the skeleton that restricts movement and is often likened to the body turning into stone.

Due to FOP being so rare, it took a while for doctors to finally diagnose Lexi. Mum Alex, 29, told HertforshireLive: “We were initially told, after the x-rays, she probably had a syndrome and wouldn’t walk.

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Lexi

Lexi has Fibrodysplasia Ossificans Progressiva (FOP) which affects one in two million people. (Image: Family handout/HertfordshireLive)

“We just didn’t believe that because she is so strong physically at the moment and she is just kicking her legs.

“We weren’t quite sure so we did our own research in mid-May and then we found this disease and we took it to the specialist.

“Towards the end of May we had to go for a genetic test and further x-rays, but the genetic test takes six weeks for the results.”

Lexi’s tests were sent to a specialist lab in Los Angeles where they confirmed she had FOP.

FOP means that if Lexi’s body receives even just a minor trauma – something as simple as falling over – her condition will worsen rapidly.

Lexi

Lexi with Alex, Dave and her brother Ronnie. (Image: Family handout/HertfordshireLive)

The condition means she can’t have any injections, vaccinations or dental work, and she also can’t have children.

Any trauma to her body will subsequently cause bumps which lead to extra bone growing, thus preventing her from moving.

Alex and Dave, who are also parents to three-year-old Ronnie, have found through their own research that there is a 50 per cent chance she could become deaf as the extra bone develops through her body and up her neck.

Alex continued: “She’s absolutely brilliant. You almost couldn’t write it. She sleeps through the night, she smiles and laughs constantly, hardly ever cries. That’s the way we want to keep her.”

Lexi

FOP is currently incurable. (Image: Family handout/HertfordshireLive)

FOP is so rare and currently incurable so Lexi’s parents hope that raising awareness of the condition will help health experts and parents detect it earlier.

Dave, 38, said: “We are under the specialist of a top paediatrician in the UK and he said in his 30-year career he’s never seen a case like this, that’s how rare it is.”

It is still not known what causes the condition, and the scientists working on the cure are solely funded by the FOPFriends Charity, a charity which receives no funding from the NHS.

On hearing that their daughter had an incurable condition, both Alex and Dave have taken a degree of comfort from the support network both online and within charity groups.

Alex said: “There is a great community of other parents that have [children with] FOP and one of the parents started up this charity called FOPFriends, and everything that they make they donate to the research to try and hurry up.

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Lexi

Lexi’s parents want to raise awareness. (Image: Family handout/HertfordshireLive)

“That’s our aim, to help them raise awareness and help them raise the funds. It’s been absolutely heartbreaking, but we have had their support.”

Alex and Dave found out, after speaking to experts, that there are active clinical trials that are proving to be somewhat of a success.

Experts suspect that within the next two to three years the medicine will hopefully hit the market to help prevent and eventually cure FOP.

A fundraiser has been set up for donations to help find a cure for FOP. You can find more information and donate here.

Additional reporting by Adam May.





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