Elena

Elena, 6, has two genetic mutations. The first geneticist she saw at age two, told her parents there was “nothing significant to report” and not to worry. But at the age of 5, after additional genetic testing with a new geneticist, the tests showed that Elena has a mutation for autism and a rare mutation on the X chromosome known as BRWD3. Based on the limited number of persons with this mutation, symptoms may or may not include mild to moderate intellectual disability and macrocephaly. So far, Elena is the only known female with this mutation. Elena loves swinging in her backyard and likes looking at books.