The story of Shay
E is for epilepsy. E is also for evil. Evil epilepsy. Having my second child I knew something was wrong when I was pregnant. The movements weren’t right, not like when they have hiccups. Like a seizure. I was told not to worry and gave birth to a beautiful boy. I remember my friend being there straight after, she was the only one that had the chance to see him. We kept saying he was cold and shivering. In fact he was twitching. Admiring him on the bed, he suddenly went purple. His eyes were wide open almost in a demonic stare. He was stiff. I couldn’t even speak. My friend rushed him over to the nurses station screaming for help. A few seconds later his colour came back to normal and he looked like he was asleep.
They bought him over to me and told me off from possibly making him choke on some milk. He was asleep! I KNEW he didn’t choke on milk. He was asleep. I was petrified to put him back in the hospital cots so me and my friend had him on the bed, eyes glued to any kind of movement. A nurse came over to check on us and then he had another one. It was a seizure and this time it was worse than what I had witnessed a few hours ago. I remember crying and standing frozen and asking ‘is he dead?’ She told me he wasn’t. There was a rush of doctors and next thing he was with them being rushed upstairs to the neonatal unit. From then on it was a blur of seizure after seizure after seizure. Tests and EEG’s and brain MRI scans and all sorts and lumbar puncture and no answer. After a month it seemed his seizure’s were under control. By that I mean a few in the morning and a few in the evening. He was allowed home. It was heaven to be home and with family.
I slept well and looked at my home with relief. How I missed it and the normality of things. How I missed my other child being able to sleep next to me how I missed my living room. Most of all it was bliss to have my baby home. The next morning he had a twenty minute seizure. Ambulance was called and we were taken to hospital. He didn’t leave hospital for nearly a year. We were allowed on day leave and night leave sometimes when things looked up. I think we even had five days at home once but we essentially lived in hospital. Staff would see me in a and e and know what we were there for. I was always given a hug and a cup of tea. It was horrible watching him have all these seizures and nothing work on him. He lost his eye sight and ability to swallow at one point for months he wasn’t smiling back. He even broke his leg from a seizure. Seizures are a nasty thing. His consultant who was there from day one exhausted every means of medication and testing to find out what was causing this refractory type of epilepsy and why we couldn’t find the cause.
We went to great Ormand street hospital and was approached in regards to research. I agreed because if my son couldn’t be helped then at least another child maybe one day could. After a year I had a phone call. We finally had an answer. Kcnq2 encephalopathy. A devastating and very rare from of an epileptic encephalopathy. I felt many things but I was relieved I had a name to it. He also had a POLG mutation. Why him? I’ll never know. I do know though, that he has changed everyone’s lives for the better. He is the happiest most content child you will see. He’s always smiling. He is charming. His eyes do all the talking even though he never will. His disease was discovered the year he was born. We are lucky we know what we’re dealing with even if we don’t know a lot about it. I am also lucky he had the consultant he did. Without him I don’t think my son would be here. He is truly amazing and still is.
I have connected through a Facebook group with other parents who have children with the same rare disease. They are our family. We all love our children beyond words and help each other and support each other from across the world. No one will understand the struggle of a rare disease and the impact of it on family, siblings, work, friends, life in general. You never think it will happen to you. It’s something you read about in an article or see on the news. Then it does. You have no idea what it will bring and sometimes medical professionals don’t either. Regardless we are blessed. The best support is those around you and the acceptance and love and I never knew such love existed till my boy came along and pulled it out of all of us. Be thankful for every small thing and be understanding because you just never know what anyone is secretly battling,