Effie was born in June 2010 and seemed a perfectly healthy child. She met all of her milestones, even exceeded some of them. She loved to go to the local farm, run around at the park and play with her friends. When Effie was 2.5, in December 2012, she seemed run down and anxious. We thought she may be coming down with a cold, but in reality it was much worse.
In Jan 2013, Effie had her first seizure, a drop attack in the bath. The following day saw 3 seizures, by the end of the week she was having 10 a day and was admitted to hospital. Effie was diagnosed with epilepsy and started on anticonvulsant medication. Over the next 6 months, the seizures become increasingly difficult to control and her medication was regularly increased. Effie's development slowed considerably over the following months and she started to show signs of dementia and losing skills. Effie was admitted to hospital again in June 2013, the day before her 3rd birthday, unable to walk, her speech was slurred and she was hallucinating. Another medication was added which seemed to help and she was able to walk again, albeit very wobbly with lots of falls. As the year progressed, Effie's ability to walk and talk continued to decline and she started to have problems with her sight.
In January 2014, we were given the devastating news that Effie has Late Infantile Batten Disease. Batten disease is a fatal, inherited disorder of the nervous system, in which previously normal children develop vision problems and seizures. Over time, the children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. They have difficulties sleeping and become distressed for no apparent reason. Effie regularly screams for hours and there's nothing we can do to help her.
Effie had a PEG fitted last month as she is losing her ability to swallow now. In the near future, she will lose her ability to sit and hold her head up. She can no longer stand up but she can still 'bunny-hop' to get about.
In the near future, chest infections will become frequent for Effie and suctioning will be required to maintain airways. Eventually, Batten children become blind, bedridden and demented. Batten disease is always fatal, with death usually occurring between the ages of 5-12. Effie is currently 4 years old.
Despite her worsening symptoms, Effie is still a very happy, brave and inspirational little girl who loves music, stories and watching Peppa Pig! She adores playing with her baby brother, George, who is 10 months old.