A couple are facing a desperate “race against time” to fund a miracle cure for their baby girl whose body is “turning to stone” due to a rare genetic disorder.
Little Lexi Robins was born on January 31 this year – and from the day after she was born, her parents have been battling with what turned out to be a “heartbreaking” diagnosis for their daughter.
Lexi, from Hemel Hempsted, Herts., suffers from super-rare condition Fibrodysplasia Ossificans Progressiva (FOP), which affects just one in two million people, and just 48 people in the UK.
The bone disorder, caused by a random mutation of genes, gradually replaces muscle and connective tissue with extra bones.
FOP causes bone formation on top of the main skeleton, restricting movement and slowly paralysing sufferers – effectively turning them “to stone”.
Lexi’s parents Alex, 29, and Dave, 38, spotted an abnormality with their daughter’s big toes just the day after she was born – but only had Lexi’s FOP diagnosis confirmed last week.
And now, they are in a “race against time” to continue funding a seven-year long clinical trial for a miracle FOP cure that has the potential to stop the condition dead in its tracks.
Events manager Alex says the research, at Oxford University, costs £150,000 a year to maintain – but that the three researchers working on it are “so close” to finalising the cure.
But the time scale at the moment for the small research team could be up to another three years – and Alex and Dave are desperate to save their daughter’s life sooner.
Alex, who is also mum to three-year-old Ronnie, said: “It really is a race against time.
“At the moment, Lexi is doing brilliantly. It’s just her thumbs and her toes that are affected – but I’m not going to let it get worse.
“She’s so bubbly – she just laughs all day, and sleeps through the night. She’s a little angel, we just want to keep her like that.
“The researchers have found that the cure they are working on could just stop FOP where it is, and make sure it doesn’t get any worse.
“If we can get that into Lexi in the next couple of years, before she grows too much, she has a really good change at having a good, normal life.”
But Alex and Dave have been told that for the team of three researchers currently working on the cure, it could be another three years before they finalise it.
And with the condition being so rare, there is currently no NHS funding to help with the research for the cure.
Alex said: “They’re just working out some side effects at the moment, because at the moment there’s a few side effects for children.
“But it seems so wild to me that it’s down to the parents of children with this condition to help fundraise to keep the research going.
“You’d think it would be a drop in the ocean for the NHS – especially when you consider that this cure could stop people from being paralysed, and help relieve strain on the NHS.
“If it’s going to take a team of three people three years to complete this cure, imagine how much quicker it could be if they trebled that team and had nine people working on it.
“We could have a cure within the year. It’s just heartbreaking. It’s so hard knowing that she could go from this perfect little girl, to not being able to move.”
Lexi was born at Luton and Dunstable University Hospital on January 31 – after a straightforward pregnancy and birth for Alex.
The mum-of-two took her daughter home the same day – but returned to the hospital the following day after noticing Lexi’s toes “didn’t look right”.
She said: “The day after Lexi was born we noticed her big toes did not look the same as everyone else’s – they were off at right angles.
“We also noticed the movements in her thumbs looked a little odd.”
Lexi had some x-rays taken in early March, which revealed that she was missing the top bone in each of her big toes, and that her thumbs were fused – meaning she had no knuckle in either thumb.
Alex said that they were told by doctors that Lexi had a syndrome that may prohibit her from ever walking.
But after doing their own research, and coming across FOP, Alex and Dave had some genetics tests done on their daughter, to see if Lexi was carrying the FOP gene, ACR1.
And after an agonising five-week wait, the couple were devastated to find out last week (June 21), that Lexi did carry the gene mutation, and the tot was officially diagnosed with FOP.
The condition is triggered by muscle trauma, meaning that if Lexi suffers even a small bump or fall, this could cause a lump under her skin from which extra bone could grow over her skeleton.
And as she continues to grow, the extra bones will grow within her, even without any trigger.
But determined mum Alex has now set up a fundraising page to continue to fund the research for the FOP cure – and hopefully help speed the process along for Lexi and other sufferers.
And Alex said it means “everything” to her and Dave that the page has raised an incredible £40,000 in just four days.
She said: “The fact that we have had so much support means everything to us. It’s amazing.
“Lexi is not going anywhere. We will do everything we can for her. The quicker we can raise this money, the quicker we can save Lexi’s life.”
To donate to the fundraising page, visit: https://www.crowdfunder.co.uk/finding-a-cure-for-our-little-lexi?