Little Nefeli needs further treatment!

24-month-old Nefeli is a little girl who faces a difficult daily life, having been diagnosed with a rare genetic mutation. As soon as our little one was born, the doctors noticed that her head was smaller than expected, so they referred us to a university hospital in Athens for further tests. Imaging tests revealed brain hypoplasia, whilst according to the genetic testing carried out a few days later, the child suffers from a rare genetic mutation that causes severe psychomotor retardation and microcephaly.

Today, Nefeli is 24 months old, yet she has not yet managed to crawl or speak. She is receiving anti-epileptic medication, as she frequently experiences seizures, and she is still unable to eat solid food, as she has not developed the ability to chew; at the same time, she is fed via a nasogastric tube because she has experienced aspiration, which causes her constant infections and lung problems. According to the paediatric neurologist treating her, the child needs to undergo a programme of physiotherapy, speech therapy and occupational therapy immediately, which will enable her to develop her speech and fine motor skills, as well as take her first steps.

The child’s health insurance provider will cover part of the therapies; however, our family is unable to meet the remaining costs of her medical and pharmaceutical needs. I, her mother, am not working, as the child requires round-the-clock care, and our family of three has now reached a financial impasse.

Little Nefeli has been suffering since the moment she was born. However, her treatments will improve her quality of life.