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’.
Fibrodysplasia Progressiva (FOP) was diagnosed in Lexi Robins, a Hertfordshire girl. It is believed to only affect one in two million people.
The ultra-rare genetic disease gradually replaces connective tissues, tendons, ligaments and muscles into extraskeletal bone.
Alex and Dave, her parents, received the devastating news that funding was not available through 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,” Dave said that he is pushing for treatment for Lexi to prevent her from losing any mobility. After the bone develops and moves, there is currently no way for it to be reversed.
It’s heartbreaking for parents to hear the devastating news. It’s hard to see any hope.
“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.
The parents noticed that Lexi was unusually shaped and had little movement in her thumbs. She was born January 31, this year.
A rash developed on her body that was itchy and patchy.
Because FOB is so rare, doctors took a while to diagnose her.
She was initially diagnosed with bunions and double-jointed thumbs. However, the condition proved to be much more serious.
FOP also means Lexi will get worse if she has a minor injury, like falling over.
Her movement will be severely affected by bumps that lead to bone growth.
The doctors also discovered that she is at risk of becoming deaf if her neck develops bone.
What is fibrodysplasia progressiva?
Fibrodysplasia Ossificans Progressiva (FOP), is a condition that causes connective tissue, muscle tissue, and tendons to be replaced with bone that has formed outside of the skeleton.
The process is most noticeable in childhood. It usually starts in the neck, shoulders, and continues down the body.
The development of extra-skeletal bones can lead to a gradual loss in mobility and joint damage.
Trauma to the muscles such as a fall or medical procedure can cause episodes of muscle swelling and inflammation. This is followed by bone ossification.
Many people with this condition are born with short thumbs, malformed bigtoes, or other skeletal abnormalities.
FOP has no cure.
To reduce swelling and pain, some drugs can be used.
The symptoms can be managed with occupational therapy, such as braces and special shoes.
Due to the damage they cause, biopsies and other invasive tests should not be performed.
As she ages, she will need to be careful about getting any injections, vaccines, or dental work. She won’t even be able have children.
Their fight for Lexi’s survival has been shared by many people, including India and Australia.
FOP Friends Charity is the only funding source for scientists working on this cure. The NHS does not currently provide any funding.
The FOP Friends Charity is funding FOP research. Investments will go towards Oxford University’s research team.
There are currently three individuals working in Oxford to find a cure, costing £125,000 a year.
Parents of victims of this cruel disease donate the money.
The long-term goal is to secure corporate funding. However, the short-term objective is to secure regular funding.
Alex indicated that research could improve our understanding of FOP and help us to better understand other conditions.