By the time Effie was born, Paul and I had been together for ten years and married for three. We’d started to wonder if we’d ever be parents, so as you can imagine, we felt like the luckiest people alive when Effie came along.
Those first few years were magical. We had so much fun, going on Teddy bear’s picnics and taking trips to our local farm. We had a great social life too. I’d made some lovely friends at my antenatal classes which gave Effie a ready-made circle of little friends to play with.
We were so happy, and everything seemed to be progressing well. Effie passed her two-year check up with flying colours, and by two and a half, she had passed all her milestones. We were just a normal family watching our baby grow into a little girl.
Effie’s road to diagnosis started when she was two and a half. Her dad was giving her a bath when she suddenly fell forward. She was unconscious for less than a second and we didn’t know what it was at the time, but it was the beginning of a series of seizures that led to me calling 111, frantic with worry. An ambulance was called and we were rushed into hospital, but blood tests came back clear.
Following our hospital visit, we had to wait a couple of anxious weeks for the results of an MRI, and during that time we noticed Effie had started to stumble and fall more often. Despite friends’ reassurances I knew something was wrong and started to capture the falls on video. When the MRI scan came back clear, those videos were used to diagnose her with epilepsy. We’d worried that Effie had a tumour, so it was a huge relief when the scan came back clear. That relief was short-lived.
Seizures started to break through despite increases in her medication. Her development slowed, then stopped, and we came to the realisation that Effie’s future wouldn’t be like her friends’. We vowed to do our best for her and give her the best quality of life we could.
It was in November, when I was pregnant with Effie’s brother, George, that we were told Effie would be tested for Batten disease. “It won’t be that”, the consultant said. “Only five children a year are diagnosed in the UK. Don’t google it”. When Effie’s test came back positive, we had to acknowledge that Effie’s future wouldn’t just be different from her peers’; she would not have one at all. This disease will rob her of every skill she’d developed, and those she’d been born with, until she couldn’t even see or swallow. It would then take her life.
Now, we take one day at a time and try to do lots as a family. Christmas has always been a time for making memories, like when Effie was two and we all sat playing the musical instruments she got for Christmas. Nowadays it’s even more important to make those wonderful memories. We want to give George memories of his sister that he can cherish as he gets older, and we want to help Effie enjoy every moment while she still can.