Lara's Story
The first we knew there was something different about Lara was at an ultrasound when I was 38 weeks pregnant. The doctors discovered a large cyst on her brain (which at the time they thought was in her brain). That week was very difficult and distressing so at 39 weeks, I had asked for a caesarean. The doctors prepared us for the worst, but also told us to hope and pray for the best. When Lara was born her agar score was 9 and she seemed just like a normal baby.
They took her to the special care nursery with all the premature babies, we noticed she was more than double the size of most of the other babies weighing in at 3.7kg. Only an hour had passed and they brought her back to my room. When she was one day old she had an MRI and they quickly discovered a large cyst on the right side of her brain and two smaller one on the left. They then introduced us to more doctors this time a neurosurgeon and she said they would operate to drain the cyst when she was a bit older. Finally they sent us home with instructions to look out for seizures.
At Lara’s eight week check up the paediatrician thought her vision needed further assessment, so off we went to an ophthalmologist and he discovered lesions on her retinas, then we were off for a barrage of tests, the most likely cause we were told was either an infection during my pregnancy or a bleed in Lara’s brain. Next was another MRI, a lumbar puncture and more photos of her retinas.
All seemed normal until she was three months old, then we noticed her first seizure, I didn’t recognise them as seizures at first because they looked more like spasms. We took her to emergency at Sydney Children’s Hospital where she had several seizures until she was eventually medicated and our neurologist diagnosed her with a rare genetic disorder called Aicardi Syndrome caused by a genetic mutation. We stayed in hospital for a week while the doctors got the seizures under control.
What this means for Lara, well the doctors can’t really tell us, she will have a delayed development both physically and mentally, maybe slight, maybe severe.
On a positive note it seems moderate at the moment, she has partial agenesis of the corpus callosum (which means the messages between the left and right side of the brain are missing), she has lesions on her retinas, however her retinas and optic nerve function normally, but her vision is delayed. She has cysts on her and in her brain, low muscle tone and the messages from the brain to her body are delayed hence the slow development. Whilst coping with all this she has seizures which can hopefully be controlled with medication.
Lara is now ten months old, she is a gorgeous little girl, and her seizures are finally under control with a cocktail of three medications. She is starting to hold her head when sitting on someone’s lap, she can’t sit up on her own yet but loves to lie on her play mat and play with her toys. She can also roll from side to side and rolled over the whole way a couple times.
Lara loves her brother Noah and always smiles when he is around, she is a happy baby who is a joy to be around. Lara is currently having a lot of therapies such as a speech therapist to help with feeding (so far so good), an occupational therapist to help with equipment and correct positioning, a physiotherapist to help with movement and co-ordination, an ophthalmologist to check her eyes, a vision therapist to improve her vision, a neurologist and a paediatrician to oversee all her treatments, she also attends Baby Links (a play group for special needs children) now that is one huge team of specialists.
Natalie Palmer