By Katie, ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder, Ireland, February 24, 2021
Lucy was diagnosed on the 8th April 2015 with ADNP Syndrome through the DDD Study in Cambridge University in the UK, she was the first of two children to be diagnosed and in the July of 2015, Lucy was also diagnosed with Perthes Disease. She has been attending a special needs school since she was at the age of one and a half, she also attended a mainstream play school at the age of three years old but this did not suit Lucy's needs so I put her in the special needs school full time.
At the age of ten, Lucy developed a limp, we let it go for a couple of weeks, and then I brought her to A&E , we were in there for twelve hours and it was found she had Perthes disease which is a rare childhood condition that affects the hip. In December of 2019, Lucy had a bone fusion surgery and is still recovering.
Lucy was referred to a cardiologist she was seen by one at twenty months old. The cardiologist said that she had a hole in her heart that was 6-8 millimetres between two chambers of her heart. She had an echo and an ECG, at this stage Lucy had never shown any signs of having any problems. Lucy never stopped breathing, never went limp and never turned blue. Lucy was diagnosed with an atrial septal defect (ASD).
At the age of three years and ten months, Lucy was brought in to have the hole in her heart fixed, it was done by catheter closure, but this surgery didn't work and they could not close the hole. Lucy was allowed go home the next day. Lucy was put on a waiting list to be called in for an open heart surgery if they had any cancellation. Lucy had her open heart surgery just before she turned five years old. The hole in her heart was found to be 22-26 millimetres and not the 6-8 millimetres they originally thought. The hole was in each of the four chambers of Lucy's heart, after twenty-four hour she was out of Intensive Care Unit and back in the main wards she was discharged after five days, she is also still under a cardiologist supervision.
Lucy is a verbal child, she started speaking at around the age of 4-5. Lucy has ADHD, ODD and OBD.
After everything Lucy has been through she is the still a happy young girl and is always smiling like the warrior she is. Things that make Lucy happy are swimming, baking, listening to music, playing on her iPad, going to school and to the community centre.
