Mum's agony as daughter, one, diagnosed with rare condition that will gradually turn her baby girl into 'stone'
A MUM has spoken of her heartbreak after her one-year-old daughter was diagnosed with a rare condition that will gradually turn her body to 'stone'.
Lexi Robins from Hertfordshire was diagnosed with Fibrodysplasia Ossificans Progressiva (FOP), which is thought to affect just one in two million people.
The ultra-rare genetic disease gradually replaces connective tissues, tendons, ligaments and muscles into extraskeletal bone.
After the earth-shattering news, her parents, Alex and Dave were met with the news that funding isn't available on the NHS.
The couple decided to launch a petition to help dedicate funding for research into the rare condition to help other families.
Since her recent diagnosis in June this year, the Robins family have raised a whopping £100,000.
"It's been an absolute rollercoaster," 29-year-old Alex told HertsLive.
"It's a race against time," said Dave, who is pushing for treatment for Lexi before she loses any mobility as once the bone has developed and movement is lost, there is currently no way to reverse it.
"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."
He added: "There will be something, in our lifetime, that is going to be able to support her, whether it be a treatment or a cure."
The parents, who have another child together – three-year-old Ronnie – knew something wasn't right fairly early on with Lexi.
They noticed that Lexi, who was born on January 31 this year, had unusually shaped big toes, and there was little movement in her thumbs.
She also developed a patchy and itchy rash across her body.
With FOB being so rare, it took doctors a while to formally diagnose her.
They believed she had bunions on her feet and thought her thumbs were double-jointed, but sadly it turned out to be far more serious.
FOP also means that if Lexi suffers a minor trauma – like falling over – her condition will rapidly worsen.
Bumps will lead to extra bone growing – which will affect her movement substantially.
They also found out that there's a 50 per cent chance she will go deaf if bone starts to develop in her neck.
What is fibrodysplasia ossificans progressiva?
Fibrodysplasia ossificans progressiva (FOP) is a disorder that causes muscle tissue and connective tissue such as tendons to be replaced by bone that forms outside the skeleton.
The process generally becomes noticeable in childhood, usually starting in the neck and shoulders and proceeding down the body.
Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected.
Any trauma to muscles, like a fall or medical procedure, may trigger episodes of muscle swelling and inflammation, followed by ossification – the formation of bone.
People with the condition are often born with malformed big toes, short thumbs or other skeletal abnormalities.
There are no known effective treatments for FOP.
Some drugs have been used to reduce pain and swelling.
Occupational therapy treatments like special shoes and braces can help manage the symptoms.
Biopsies and invasive tests are not recommended due to the trauma they cause muscles.
When she's older, she will also have to be incredibly careful when it comes to having any injections, vaccinations or dental work, and she won't be able to have children of her own.
Since sharing their story, their fight to help Lexi has reached as far as Australia and India.
The scientists working to cure this disease are solely funded by the FOP Friends Charity, with no funding currently available from the NHS.
Their aim is to help better fund FOP research with investment going towards the research team at Oxford University.
There are currently three individuals working in Oxford to find a cure, costing £125,000 a year.
This money is currently donated by parents of those living with the cruel disease.
The short-term aim is to secure regular corporate funding while the long-term strategy is to receive NHS backing, and better funding will hopefully have a snowball effect.
Alex said that if researchers could gain a deeper understanding of FOP it could help increase knowledge of more common and related conditions.
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