MEET LUCY

Written by Lucy's Mother

Lucy is a quite happy twelve year old little girl. Lucy 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.

My pregnancy was normal, but I had a slight bleed when I was seven months pregnant but they could not find any reason so I was discharged. Lucy was born at thirty seven weeks, weighing five pound five ounces. She was then put into an incubator because her temperature was a bit low for about five hours. Feeding was our first hurdle , Lucy would drink no more than 5-10 millilitres every two hours, she would take an hour to feed 5-10 millilitres but would then vomit two to three times straight after, this went on for three months. I just kept trying, when Lucy was about six months she was spoon feed tiny amounts to try put weight on. Lucy was always very small. At Lucy's nine month check up, the health nurse said that everything was fine but I looked at her a bit confused and she asked if I had any concerns. For Lucy's first year she was always in the general practice for chest infections and sore throats, she was given an antibiotic nearly every time.

I had pointed out that I thought Lucy wasn't meeting her milestones like other kids her age: i.e. She wasn't crawling in the normal way, she would just roll around from room to room just by rolling. Lucy was still on the small side and she couldn't stand on her legs when you tried to get her to stand up she would just lift her legs into a sitting position, she could not bare weight on her legs. Lucy did not move around in her cot, she didn't try pulling herself up on things and she was barely sitting up unsupported. Lucy was still only making noises and sounds no words at all. At eleven months, Lucy was referred to physiotherapy in the children's hospital.

Lucy was eleven months old when we went to the physiotherapy, at this point Lucy could clap her hands and wave as if she was saying hello or goodbye, but she could still not say either. When the physiotherapist asked Lucy to clap or wave hello Lucy just stared at her blankly and would not do it at all. So Lucy was referred to a physiotherapy in our local area twice a week for about seven months then she was referred to an Early Intervention Program because she wasn't walking or talking at fifteen months. Lucy was seen by the paediatrician at eighteen months, it was at this appointment I found out that Lucy had a heart murmur, the register heard it while listening to her chest. I could not believe it was missed as she was constantly in the general practice with infections and it was never picked up.

Lucy was referred to a cardiologist she was seen by one at twenty months. 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). She was sent to a Geneticist because some heart conditions are linked with a syndrome and with Lucy failing to meet milestones and being small statue.  Lucy was sent for CAT scan at two years to see if she had a mild firm of Down syndrome but this was negative, over the years she was tested for De George syndrome result was negative, she was also tested for Noonon syndrome this was also negative.

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. I put Lucy 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.

In 2013, Lucy was entered into a DDD study in the United Kingdom, by her genetics doctor because they hadn't found a diagnosis for Lucy. The study was done in Cambridge University. In April 2015, Lucy had an appointment with her genetics consultant where the results of the DDD study diagnosed Lucy with ADNP syndrome. Lucy is still the only person in Ireland diagnosed with ADNP, there is no doctor who knows about this syndrome. Lucy is in studies in America and Belgium because nobody knows about it in Ireland.

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. Lucy is on a waiting list for a hip replacement surgery for when she reaches the age of fifteen/sixteen years old depending on how the disease deteriorates. Lucy is under paediatric doctor with this disease and is being monitored, she uses a crutch to help get her around and also has to get her shoe raised from 5-25  millimetres.