Treatments for a 2-year-old baby with a rare gene mutation
Treatments for a 2-year-old baby with a rare gene mutation
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Original Greek text translated into English
Original Greek text translated into English
Description
Little Nefeli needs additional treatments!
24-month-old Nefeli is a little girl, who faces a difficult everyday life, as she has been diagnosed with a rare gene mutation. As soon as our little girl came into the world, the doctors noticed that her head size was smaller than expected, so they referred us to a university hospital in Athens to undergo further tests. The imaging tests showed hypoplasia of the brain, and according to the gene testing carried out a few days later, the child suffers from a rare gene mutation, which causes severe psychomotor delay and microcephaly.
Today, Nefeli is 24 months old, but she has not yet been able to crawl or speak. She is on antiepileptic treatment, as she has frequent episodes of seizures, and she cannot yet eat solid food, as she has not yet developed the function of chewing, and she is also fed through a nasal tube because she has also developed aspiration, which causes her constant infections and lung problems. According to the paediatric neurologist who is treating her, the child should immediately undergo a programme of physiotherapy, speech therapy and occupational therapy, which will allow the little one to develop her speech and fine motor skills, as well as to take her first steps.
The child's insurance carrier is going to cover a portion of the treatments, however our family is unable to afford the remaining cost of her medical needs. I, her mother, do not work, as the child needs care on a 24-hour basis, and our family of three has now reached a financial dead end.
Little Nefeli has been suffering from the moment she came into the world. But her treatments will succeed in improving her quality of life.
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