Evie is 15 years old and was diagnosed with Axenfeld-Rieger Syndrome when she was six weeks old. She was born with an Exomphalos (a weakness of the baby’s abdominal wall where the umbilical cord joins it). At her 6 week check, Evie’s mother asked the doctor about her daughter’s unusual looking eyes. It took 3 doctors to make a diagnosis, and they admitted that they had to refer to their medical journals. Evie has hypodontia (the developmental absence of one or more teeth excluding the third molars) and many fake pupils. She has a deletion on the long arm of chromosome 4. She is small in stature but other than the above, she’s a normal teen. She loves music especially The Beatles and Monkees etc. She’s a lovely kind clever girl.
