Five-month-old baby girl’s ‘body turning to stone’ due to very rare condition
Parents of a baby girl born with an extremely rare genetic condition which will see her tissue turned to bone are warning other families to look out for potential signs.
Lexi Robins, born in January, appeared like any other healthy baby but she has now been diagnosed with a rare and incurable condition affecting just one in two million people.
Her parents Alex and Dave from Hemel Hempstead, have been told their daughter has a life-limiting disease called Fibrodysplasia Ossificans Progressiva (FOP).
The genetic disorder gradually replaces muscle and connective tissue, such as tendons and ligaments, with bone.
It can lead to bone formation outside the skeleton that restricts movement and is often likened to the body turning to stone.
It’s extremely rare and her parents are now pushing for greater awareness of the condition.
Shortly after Lexi was born on January 31, Alex and Dave noticed that her big toes didn’t quite look right and that there was little movement in her thumbs.
But due to FOP being so rare, it took a while for doctors to finally diagnose her and it’s hoped through raising awareness it’ll help both health experts and parents detect it earlier.
In April, X-rays suggested that Lexi had bunions on her feet and that her thumbs were double jointed.
“We were initially told, after the X-rays, she probably had a syndrome and wouldn’t walk,” said Alex, 29.
“We just didn’t believe that because she’s so strong physically at the moment and she’s 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, 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 tested positive for FOP.
“We then actually found out last Monday (June 14) the result of the FOP test,” Alex continued.
“The gene that they look for is the ACR1 gene, and that unfortunately is the gene that she has.”
FOP means that if Lexi’s body receives even just a minor trauma – something as simple as falling over – her condition will worsen rapidly.
The condition means she can’t have any injections, vaccinations or dental work, and she also won’t be able to have children.
Any trauma to her body will subsequently cause bumps which lead to extra bone growing, thus preventing her from moving.
“We’re under the specialist of a top paediatrician in the UK,” added Dave, 38, “and he said in his 30-year career he’s never seen a case like this, that’s how rare it is.”
Alex and Dave, who are also parents to three-year-old Ronnie, have found through their own research there’s a 50 percent chance she could become deaf as the extra bone develops through her body and up her neck.
“She’s absolutely brilliant,” said Alex.
“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.”
It’s still not known what causes the condition, and the scientists working on the cure are solely funded by the FOPFriends 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.
“There’s 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,” said Alex.
“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. You become experts and you know what to look for and how to deal with it.”
Dave added: “It’s heartbreaking and a rollercoaster. When you’re told there’s no cure your heart sinks.”
The current inability to give Lexi vaccinations is a concern, but they hope that if they help find a cure it can help both Lexi and other children who are in a similar position.
“We’re kind of in that process at the moment of having to wrap Lexi up in cotton wool as best we can but at the same time making sure she doesn’t miss out on anything,” added Dave.
“No parent should have to make the decision on whether or not to give their children vaccinations. We’re kind of hopeful that we can find this cure so we can give her the most normal life going forward.”
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.
Alex has also taken to Facebook and Instagram to share her experience, as well as some of the signs parents can look out for including the big toe pointing at a right angle, fused thumbs, poorly skin and short big toes.
They’ve been bowled over after receiving over £31,000 in donations in just three days, as well as half a million views on the fundraising page since June 27, as the couple attempt to help get the medicine on the market quickly and prolong Lexi’s life.
“It means absolutely everything,” said Alex, who has set a target of £100,000, “and we’ve had almost national interest in terms of people messaging and wanting to do stuff all over the country.
“We appreciate it so much. We’ve got a long way to go but if it helps raise awareness and it helps raise funds towards research then we’ll just keep going. We really appreciate and want to thank everyone.
“Without the NHS funding the research it’s now up to us to try and raise the funds to save our little girl’s life, along with all the other existing and future generations who will be diagnosed with the condition.”
Dave added: “As heartbroken as we are, we’ve been very overwhelmed by the support of everybody.
“It’s turned us from complete despair and not knowing what to do thinking actually, there’s plenty of help out there.
“We’re eternally grateful for that. We want to be those parents who are trying to make a difference for Lexi and, on the back of that, trying to make a difference for any other parents who have to suffer such a cruel disease as well.”