Help Evelyn's Battle with Batten Disease (CLN3)

Our daughter, Evelyn, was born in December 2015. All was normal for her first 3 years until she started preschool. At that point, we began to notice that she was struggling a bit with her speech and had issues with balance and clumsiness. She was seen by a speech therapist and, at a later stage, was diagnosed with Dyspraxia (DCD). Shortly after she turned 5 years old, we noticed that she was having issues with her sight. We initially thought it related to a Sensory Processing Disorder, but then realised that it was more than that, and she seemed to have issues with her peripheral vision. She didn't always know who was in the room with her, and she had to be guided up and down kerbs when we walked routes that she wasn't familiar with. She was constantly falling over things in the playground and covered in awful bruises. She was referred to Opthalmology in Temple Street Children's Hospital, and on Monday, July 12th 2021, we were given the news that our daughter was already legally blind and would lose the rest of her vision in time.

It was a huge shock! We cried many tears. And while we did this, our little girl did what she had already been doing for months - she adapted and got on with it. By the time she turned 6 years old in December 2021, Evelyn had lost the remainder of her sight and was completely blind. She was given a bright pink cane to help her navigate her new world, and within 10 minutes of having it, it was as though it was already an extension of her arm. As a family, we adapted, and we watched our little girl take on her new challenge with gusto. With a view to the future possibility of gene therapy, we sent off a gene test for Evelyn and awaited the results.

Unfortunately, in early May, on a normal Monday evening, just before bedtime, Evelyn had a seizure. It started as an absence seizure, and by the time we spoke to Ambulance Services, it had developed into a tonic-clonic seizure. Afterwards, she lay on our bed like a rag doll. We looked at our little girl, lethargic and barely responding, and wondered what was happening to her.

She was brought into Temple Street by ambulance and spent 4 nights there. Many teams did many tests on her in those 4 days, and the genetic test results we had done earlier in the year were sought out. On Friday, May 13th 2022, we were given the news that no parents can ever imagine. The reason for Evelyn's delays, the reason for her sudden blindness, and her developed epilepsy was due to an inherited genetic disorder caused by the gene CLN3. The disease it causes is known as Juvenile Batten Disease.

Evelyn is 6 years old. She has been given a life sentence. She will continue to decline. She will lose her mobility. She will eventually be unable to dress herself, feed herself, or even speak. Our little girl who loves Disney Princesses, who knows all of the dialogue and songs of so many Disney movies and shows, will no longer be able to dance or sing along. She'll be lucky if she lives to see her 20th birthday.

As a family, we are devastated. Even after months of processing this news, it is impossible to believe it is happening to our little girl. The only thing we know how to do is get through each day, to concentrate on giving her and her sister and brother, happy memories, to live as normal a life as we can, for as long as we can.

We are desperate to grab onto any bit of hope we can. And in this age of medical advancements, there is hope. There is a trial for a drug called Miglustat that is currently running for 5 patients over the age of 17, with CLN3 Batten Disease in the States. They want to bring the next phase of the trial across the world, including children from 4 years old to 16 years old. As far as we know, Evelyn is the only child in the Republic of Ireland with CLN3 Batten Disease, so the trial is unlikely to come here. If we want her to take part, we will need to travel.

And so we need help to raise funds to allow us to get her there and to travel back and forth for the 2 years that the trial will take. Our family would appreciate if you could help in any way you can to get her there and give her a chance to fight this awful, debilitating disease.

Thanks so much,

Eddie, Jolene, Grace, Evelyn & Benjamin