The story of Alex
Alex is 7 years old and lives in Sydney. He is one of only 3 people known to be living with NCBRS in Australia and approximately 150 known cases worldwide.
Alex has a delightful personality and his enormous smile makes him a lot of friends wherever he goes. He loves aeroplanes, trains, cars, animals, music, jumping, swinging, Stormtroopers and his big sister.
Alex’s biggest challenge is communication, as he still cannot speak. He also lives with epilepsy and intellectual disability. There are many physical characteristics that people with NCBRS share, some that also cause difficulties for him, but he is getting bigger and stronger every day.
Alex finally received his NCBRS diagnosis in late 2018 at the age of 6, after an initial misdiagnosis and many years of wondering. A social media post of another child with NCBRS, and the remarkable similarities between the two, prompted Alex’s mother to start researching the syndrome where she found the amazing resemblance between Alex and some of the other children. “Diagnosed by The Internet”, Alex and family then saw a geneticist who agreed that this could finally be the answer they had been searching for. Subsequent genetic testing finally confirmed that Alex was also part of the Nicolaides Baraitser Syndrome family.
Alex’s family was overwhelmed to finally have an answer and so happy to be welcomed by the NCBRS community, with new friends all over the world.