Evie's condition is extremely rare. In the United Kingdom, there have been around 75 babies identified with Cri du Chat syndrome over the past 25 years. About half of the children born with Cri du Chat syndrome have the rare chromosome rearrangement that causes a condition called 5p- syndrome. This is marked by physical features similar to those of Cri du Chat syndrome, but with a much lower prevalence of intellectual disability. A third of children born with Cri du Chat syndrome have a genetic mutation that results in a disease called Angelman syndrome, which affects one out of 10,000 babies.
Evie has lived with her parents, Lisa and Michael, in London, UK, for many years. Her parents are both health professionals, so she has a very understanding family. Her parents are very patient and lovely. She has a unique and wonderful personality. She smiles and laughs all the time. She is a very loving, bright, and happy child. She can carry on a very long conversation with her parents and other people. She has a very sweet and delicate voice. She can easily get along with other children of her own age. She enjoys being with other children and playing with them. She lives for her family. She has learned to feed herself and bathe herself since she was 1 year old. It is a miracle that she has reached the age of 3. She can talk to her parents, play with her friends, and enjoy being with her family. These are all things that most other children with Cri du Chat syndrome can't do yet. Evie's mother is a nurse, so she does not have the same challenges as working as a nurse as many other families with children with Cri du Chat syndrome do.
The following are a few photos of Evie as a baby and toddler. She is a lovely little girl. Evie has 21 pairs of chromosomes (that make up the 23 pair in humans). She has an extra copy of the short arm of chromosome 5 as part of her Cri du Chat syndrome. She also has a copy of one of the two copies of chromosome 7 that is found in all of us. This makes her triploid, which means she has three copies of each chromosome.
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