A couple are in a “race against time” to save their daughter from an ultra-rare genetic condition that will turn her body to stone.
Seven-month-old Lexi Robins suffers from a rare degenerative condition called Fibrodysplasia Ossificans Progressiva (FOP).
The cruel disease causes skeletal bone to sprout in the body’s tendons, tissue, ligaments and muscles – after even minor injuries like falling over.
Mum and dad Alex and Dave Robins, from Hemel Hempstead, are launching a petition to improve funding for treatment of FOP which is currently not provided by the NHS, Hertfordshire Live reports.
Dad Dave, 39, called the fight for a cure a “race against time” as he recalled the “raw” emotions and hopelessness felt when Lexi was diagnosed with the sinister disease.
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“It will severely reduce her mobility,” said Dave.
“FOP itself is classified as one of the rarest and most degenerative diseases known to medicine.”
It was shortly after Lexi’s birth on January 31 this year when Alex and Dave noticed some unusual signs.
Lexi’s big toes didn’t look normal and she couldn’t move her thumbs as she should be able to.
The illness is ultra-rare – with only 80 people in the UK currently diagnosed – so it took doctors a while to diagnose her.
X-rays in April showed bunions on the youngster’s feet and she had double-jointed thumbs.
Results from additional tests were sent to a lab in Los Angeles and by June they had confirmed she had FOP.
Having the disease means she must be incredibly careful as even the most minor fall could have serious consequences.
Injections, vaccinations or dental work must all be handled with strictest care and she will be unable to have children in later life.
Trauma causes bumps on her body, which make extra bone grow – preventing her from moving the affected area.
Alex and Dave have done their own research and found Lexi has a 50 per cent chance of going deaf as additional bone grows in her body and travels up her neck.
The parents have been advised to kit Lexi out in elbow and knee pads to reduce the severity of any impact.
Despite the serious and cruel condition she is facing, Alex said her baby is “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.”
The condition is caused by a genetics which can be inherited from a parent or most often a brand new mutation without family history of the disease.
The youngster has grown some lumps on her head recently, and the couple says they are monitoring her closely.
At the same time, they’re still trying to let her have as normal a childhood as possible.
“It’s a race against time,” said Dave.
“As a parent, when you first get the news it’s so raw and heartbreaking. You don’t see any hope whatsoever.
“Now, with the support everyone’s given and with the clinical trials that are happening and the amount of specialist people working on what is such a rare disease, I feel hopeful that there is something for Lexi going forward.
“I don’t know when it’s going to be, that’s when it’s a true race.
“There will be something, in our lifetime, that is going to be able to support her, whether it be a treatment or a cure.”
“She is fully able-bodied at the moment,” added Alex.
“We’ve just got to stop it from overtaking her body.
“I think, as well, it’s almost like the process of grieving where you accept it, and now we’ve gone through the upsetting stage.
“Now we’re like right, the fight’s on now.”
Twenty-nine-year-old Alex says the disease is an “absolute rollercoaster”.
She said: “Obviously it’s a journey no one would want to be on. We’ve had incredible support locally, nationally and in ourselves it’s hard to manage.
“We’ve got Ronnie who is Lexi’s older brother. He’s three years old so we have to make sure that no conversations are taking place in front of him because we don’t want him to know what’s going on or pick up any energy.
“In terms of us, every day it’s hard to deal with but it’s – in a way – getting easier in terms of how well we’re doing and how much positivity there is around the amount of clinical trials that are going on and the research they’re doing.
“It gives us a lot of hope.”
Their petition calls for more funding for research into the disease.
A three-person research team at Oxford University is working on a cure, costing £125,000 each year.
As it stands, parents of children with the disease are funding the team.
If researchers cure FOP, it may have an “Iceberg Effect” and help crack other diseases like rare cancers, osteoporosis and hip replacements, Alex said.
The couple say they have had to be patient to figure out how to deal with the youngster’s diagnosis in their marriage.
Lexi’s diagnosis has been tough for everyone to handle and that it’s taken them time to figure out how best to deal with it within their marriage.
“It’s up to me and Alex,” said Dave.
“There’s a couple of ways when you get news like that, you can regress and you can get in that slump.
“I understand exactly how people feel like that, or you can try and wake up the next day and as much as you can summon the strength to fight it.
“That’s what we decided we had to do. Expose it, raise money, fight it as best we can and then we can be honest with ourselves in a few years and say have we tried everything, have we done everything for our kids?
“Any parent would do the same for their kids.”
Alex has thanked everyone who has helped raise money for their battle against the disease.
They hope the petition will be the next step for people suffering with FOP.
“The petition is something that’s really hopeful,” she added.
“This is something new, it’s something that we really want to raise the level of awareness through, but then it’s also hope for other families who have FOP.”