According to a story from mirror.co.uk, Emma Timofte, age six, was diagnosed with a rare disease called incontinentia pigmenti. The diagnosis came when she was only a few weeks old. The disease has had serious impacts on her life and has prevented her from being able to walk. However, following a life-changing surgical operation, Emma was recently able to walk for the first time. Parents Narcis and Stephania were able to raise £20,000 to fund the procedure.
About Incontinentia Pigmenti
Incontinentia pigmenti is a rare x-linked genetic illness that has impacts on the teeth, nails, hair, central nervous system, and skin. The disorder is the result of mutations impacting the IKBKG gene. Only around 1,200 cases of the disorder have been recorded. Skin abnormalities are often the first sign, with symptoms beginning in childhood. These abnormalities include a blistering rash which eventually heals, followed by harder lesions on the skin. Other symptoms include gray to brown patches of skin (which usually fade), vision problems, hair loss, dental anomalies, skeletal abnormalities (scoliosis, extra ribs, skull deformities), pitted nails, seizures, intellectual disability, developmental delays, and other neurological issues. Males with incontinentia pigmenti rarely survive to childbirth. There is no cure for the disorder, with treatment interventions intended to address the effects of symptoms. To learn more about incontinentia pigmenti, click here.
A Critical Surgery
Emma received treatment in Greece at the Isas Pediatric Hospital in Athens. She was there for a week over the summer. The procedure is called selective percutaneous myofascial lengthening (SPML) which is intended to help relieve muscle spasticity, thereby restoring movement. Injections into the nerves around the affected muscles allows them to relax.
Her first steps were a big milestone, but Emma has some work to do in order to gain strength in her legs. Stephania is grateful for the support that the family has received from the public, which was critical for helping Emma get the treatment that she needed. Hopefully, Emma will continue to progress steadily.
