A six-year-old girl has undergone life-changing treatment that has allowed her to walk for the first time.
Emma Timofte was diagnosed with a rare genetic disease called Incontinentia Pigmenti (IP0) when she was just a few weeks old that robbed her of her mobility.
But in an effort to give Emma her independence, her parents Stefania, 35, and Narcis, 32, launched a bid to raise £20,000 for life-changing treatment in Greece.
They hit their target after raising £5k from public donations and the rest from family.
And Emma has now taken her first steps to the delight of her family.
This was made possible after she visited the Isas Pediatric Hospital in Athens, Greece, in the summer where she stayed for seven days.
Mum Stefania, of Hemel Hempstead, Herts., said she couldn’t bear to see her daughter in pain any longer and flew her to Greece for her 45 minute operation which took place on June 9, 2022.
She said the treatment, called SPML, was a minimally invasive treatment with the purpose of releasing the stiffness in her muscles.
SPML (selective percutaneous myofascial lengthening) puts tiny injections into the nerves around Emma’s muscles that are currently affected by spasticity.
Emma is now on the road to recovery and has thrilled the family by taking her first steps.
Stefania said: “After the surgery, the doctors said she has to do a lot of work in order to gain strength.
“Her leg muscles are relaxed now but still weak as she had no strength in her muscles before.”
The disorder, which is more common in females, affects the skin, hair, teeth, and the central nervous system.
It is rare with only between 900 and 1,200 known affected individuals.
Despite the daily challenges she faces, Emma’s family say she is a happy girl who loves to sing, play with her friends and go to school.
She can now be seen riding around on a tricycle as she gains her independence.
Stefania said: “The recovery wasn’t too hard, the first week was a bit difficult as she needed to wear a knee immobilizer to keep her leg straight and she couldn’t go to school in the first week.
“After that, she started feeling better but she was very emotional.”
Stefania said that she and Emma’s dad, Narcis said they are “very happy” that Emma could get the treatment in Greece.
She added: “We are very happy that in the end Emma could have the treatment, I was a little worried about Emma’s progress before - we couldn’t stay and watch her in pain.
“We are very grateful to everyone who contributed, thanks a lot, we appreciate the support.
“We were so surprised with the number of strangers that contacted us.”
