A Dublin mum has shared her heartbreak after her little girl lost her sight to a rare genetic condition - and she has warned that other children may have it too.
Jolene O'Byrne, a mum-of-three from Balbriggan, had her family's life turned upside down when her youngest daughter, six-year-old Evelyn, was diagnosed with the incredible rare Batten's Disease, which affects the nervous system. According to Jolene, the first three years of Evelyn's life were normal until she started preschool and her family notice she was having issues with her speech and balance.
Then when Evelyn started school, her parents noticed that she was having difficulties with kerbs. Speaking to Dublin Live, Evelyn's mum Jolene explained how little Evelyn would go on to lose her sight.
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Jolene said: "Evelyn has always been a little bit delayed, she's had issues with her speech and balance, and clumsiness as well. When she started in senior infants my husband and I noticed she was having difficulty with kerbs."
Evelyn was seen by a speech therapist and later was diagnosed with Dyspraxia. After she turned five-years-old, Evelyn's parents noticed she was having issues with her sight, especially with her periphery vision.
Jolene said: "One day at home Evelyn was asking where's Benjamin her brother, she doesn't realise he's in the room. Then I was worried about how she was going to drive when she was older because she doesn't have any peripheral vision. We went to Specsavers and they referred her to Temple Street Children's Hospital.
"She was down as a priority, they gave us a date which will always be in my head July 12, 2021 I brought her in they did various tests. She was in this room for an hour they turned all the lights off and put all these electrodes on your head and they flash a light and they're able to tell from the signal in the electrodes what light she's seen.
"After the tests they were brought in to see the consultant Opthalmologist and he said she has rod cone dystrophy, it's where your peripheral vision disappears then slowly progresses to tunnel vision and the lights go out eventually. He said she was already legally blind, we were in complete shock."
The family went home, and the Opthalmology team were initially hopeful because there might be a future gene treatment to cure sight loss and at the time they hoped that it would come available in Evelyn’s lifetime.
Jolene said: "By Christmas last year we noticed she wasn't seeing very much, I remember showing her flash cards on her iPad to show her things close up because we knew she wasn't seeing much. I showed her with a picture of a girl and Evelyn said it was a boy with a banana."
By the time she turned six years old in December 2021, Evelyn had lost the remainder of her sight and was completely blind. Genetic tests were carried out on Evelyn by a project that runs out of the Mater called Target 5000, and the tests were sent off for analysis.
One day last May Evelyn's health took a turn for the worse. Jolene explained: "I turned around and she was sitting on the bed really still. I said 'Evelyn are you okay?' She didn't respond, I got up beside her on the bed.
"My husband Eddie was with our other children on the landing and he knew something by my tone something was wrong by the tone of my voice. He lifted her up and carried her into our bedroom, he tried to get her to stand up on our bed. I called an ambulance and while I was explaining to the guy on the phone she started to jerk."
Evelyn was rushed to hospital, where her parents were told she'd had a tonic-clonic seizure. She spent four nights in Temple Street Children's Hospital.
The genetic test results came back, and on May 13, 2022 Evelyn's parents were given the devastating news that she has Juvenile Batten's disease, a rare and fatal genetic disorder caused by the gene CLN3. There is no cure for Batten's disease, which is a disorder that affects the body’s ability to get rid of cellular waste so they build up in cells all over the body.
The buildup causes seizures, vision loss, problems with thinking and movement, and eventually, death. Jolene said that they were left "devastated" by the diagnosis.
She said: "By the time we realised something wasn't right Evelyn was already adapting. She's quite happy in her everyday life, she absolutely loves Disney, and thankfully before she lost her sight she watched a lot of television. Her memory is phenomenal, that's actually a strength of Batten's disease, long term memory is really good.
"Batten's disease is known as a type of childhood dementia, so short term memory is not great and we see that with her already. She's not great at remembering words, but she's very good at finding an alternative word."
Evelyn is also doing very well in her school at Balbriggan Educate Together which Jolene describes as a "fantastic" school. She said: "Evelyn goes to a mainstream school, they've been amazing. She has access to an SNA and a resource teacher everyday he's teacher her Braille. They have help from the National Council for Special Education (NCSE) and visiting teacher from the blind she comes in once every two weeks.
"Evelyn's older sister Grace has Down Syndrome and she is also getting lots of extra help from the school, so we chose a really good school," added Jolene.
As part of Batten's disease, Evelyn finds it hard to stay sleep and is currently on medication to help her get more sleep as she wakes up after three or four hours. Jolene is also trying to find other parents of children who have Batten's disease.
She said: "I've heard there are a couple of kids with a different variant, Evelyn's variant is CNL3 which kind of runs from five years of age up ten you start to see the symptoms. But there's different variants and I'm aware of there being a younger variant and there are a couple of kids in Ireland with it, but I haven't found anyone in the Republic of Ireland under the HSE with CNL3."
Jolene explained what Batten's disease is and what it does to children like her daughter Evelyn. "Myself and my husband both have one if you like to call it damaged gene, she got a damaged gene from each of us.
"In a person without Batten's disease, your brain cells automatically clear away waste, but with a person with Batten's disease the body isn't able to clear away that waste. It builds up in the cells and it eventually kills the cells, they die off.
"So that's what happens with children with Batten's disease, the cells slowly die off and initially Evelyn's cells that give her sight have died and eventually everything else will as well, she'll stop being able to walk and swallow, she won't be able to talk."
Jolene is urging other parents to be aware of Batten's disease, with symptoms to watch out for like speech difficulties, balance, clumsiness, and deteriorating sight. She concluded: "My dad does says she might be the only child in the Republic that has it but there could be other children who have it but haven't been diagnosed."
The family have set up a GoFundMe page for Evelyn and her future travel abroad for possible future treatments. Anyone wishing to donate can click here.
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