Six-Year-Old Girl With Rare Genetic Disease Walks for First Time After Undergoing Cathartic Surgery

A six-year-old girl has taken her first steps and can now finally walk after undergoing a life-changing treatment.

Just a few weeks old, Emma Timofte was diagnosed with Incontinentia Pigmenti (IP0), a rare genetic disease that had robbed her mobility.

Determined to give their daughter Emma her independence, parents Stefania and Narcis from Hemel Hempstead, Herts, initiated a bid for a life-changing surgery in Greece, with the goal to raise £20,000.

They raised the funds with £5k coming from generous public donations and the rest of the amount from their families, Mirror reported.

And now, Emma, who has the power to charm everyone, has overcome her rare genetic disease and has taken her first little steps.

On her way to recovery

The surgery was made possible last June 9 at Isas Pediatric Hospital in Athens, Greece, where Emma had her 45-minute operation and stayed for seven days.

She is now on the road to recovery and healing with her family, who is thrilled to witness her taking her first steps.

The doctors said Emma needed to do a lot of work to gain strength. According to her 35-year-old mom, the little girl's muscles are now relaxed yet still weak as they had no strength before.

She further shared that the recovery wasn't too difficult except for the first week when her daughter needed to wear a knee immobilizer to ensure that her leg was straight, thus, making her miss school for that week.

After this, Emma started feeling so much better, yet she was very emotional.

The said treatment, called Selective Percutaneous Myofascial Lengthening (SPML), is a minutely invasive treatment that releases the stiffness of the muscles. It places tiny injections into the nerves around the muscles affected by spasticity.

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Anything is possible

Stefania could not contain how happy they were that Emma finally got treated. She expressed that she was worried about her daughter's progress but was hurting more, watching her in pain. She knew they could not just stay and watch her go through life like that.

The rare genetic disorder, Incontinentia Pigmenti (IP0), is said to be more common in females affecting their skin, hair, teeth, and central nervous system. It is "rare" as only 900 to 1,200 known individuals are affected.

According to the Cleveland Clinic, most children with IP0 may be affected only mildly without complications. However, there is that 20 percent who can develop neurological problems, which range from mild to severe.

Emma's family shared that she is a happy girl who loves singing, playing with her friends, and attending school, despite having her daily challenges caused by the disorder.

She enjoys riding around on a tricycle as she gains confidence and independence.

Stefania expressed her gratitude to everyone who supported and contributed to Emma's cause.

"We were so surprised with the number of strangers that contacted us," she said.

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