After losing her sight, Evelyn O’Byrne was diagnosed with a rare degenerative disorder.
Initially, mum Jolene explained that teachers thought issues with clumsiness were related to a sensory problem and so sought help.
Now at the age of seven, Evelyn has Juvenile Batten disease CLN3, a progressive degenerative disorder which causes a range of symptoms, which include loss of sight and seizures.
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Speaking to RSVP Live, Jolene explained that since she started talking, her daughter has struggled with clumsiness and her speech.
She explained to the publication: “We knew there was an issue, but we weren’t sure what it was. We contacted our Public Health nurse and she organised a batch of Speech and Language therapy from the HSE.
“Her preschool teacher was concerned that she was a little clumsy and wasn’t keeping up. When she started primary school, her teacher there also pointed it out.”
She added that it took a while to realise it was Evelyn’s sight: “It’s not the first thing you think of.
“We thought it was a sensory issue and she was having problems filtering out the non-important things to get to the important things.“
In early 2021, when she had turned just five years old Evelyn was assessed by an occupational therapist for dyspraxia.
“She was diagnosed with it,” Jolene said. “But we noticed that she had difficulty making out curves and she didn’t always know if someone was in the room with her. We came to the conclusion it was an issue with her sight.
“She was coming in from the bright outside, into darker lights indoors and she was feeling the walls.”
Evelyn was then brought to get her eyes tested and a pigmentation on the edges of her retina was found so she was referred to Temple Street for further testing.
After being rushed for tests, Evelyn’s parents were taken to speak to a consultant.
Jolene said: “We were given the news that she was already legally blind, which was an absolute shock. We couldn’t believe it.”
Although she was referred for genetic testing, as a result of the HSE cyber attacks, they didn’t occur until January 2021, during which time Evelyn completely lost her sight.
Her mum added that her daughter also experienced a seizure around this time, explaining: “Her eyes moved to the side, she wasn’t responding and she began to jerk.
“We knew something was wrong and called an ambulance straight away. It passed in less than a minute.
“She started to respond to us again, but she was irritable and wanted to go to sleep.”
Upon reaching hospital, doctors became concerned she didn’t have a temperature which was common with seizures and she had lost her sight rapidly the previous year.
Following four nights in hospital, Evelyn’s parents were told their daughter had Juvenile Batten disease CLN3.
Jolene said: “The neurologist’s hands were shaking as she told us, her voice was shaking. We knew even before she told us, it wasn’t good news.
“It’s in her genes. Myself and my husband are both carriers, unbeknownst to us and unfortunately out of our three children she was the one who got the damaged genes.
“Her body is unable to clear away waste in her cells. The waste is building up and killing off the cells. That’s why her sight is gone, why she’s had difficulties with speech and unfortunately it’s going to continue doing that until she won’t be able to eat, to talk, to walk and she will be completely dependent on us.
“Unfortunately, she won’t have a long life either. They expect her early 20s if she’s lucky.”
Her parents then heard about clinical trials in the US that clear away waste that is being used for other conditions.
“It hasn’t been used for Batten disease before and the first phase of the trial is running for young adults over 17, but it’s a safety trial. It’s not running to see if it works, it’s running to see if it’s safe to administer.
“Now they’re looking to run phase three which is children aged four to sixteen. The aim is that it will slow it down, but it won’t stop it.
“Hopefully, it will give her a better chance in life, and down the road there might be another treatment of a cure.”
Jolene described the response the GoFundMe has received as “absolutely phenomenal”.
“I wasn’t expecting it to take off like it did,” she said. “It’s a very rare condition and we still haven’t found anyone with it in the Republic of Ireland with Evelyn’s variant CLN3. I was hoping the GoFundMe might actually find other families that are dealing with it.
“We’ve felt quite isolated so it’s been really good from that point of view - with the support. Initially it was about raising funds to get her on to a clinical trial, but it’s also been about letting people in and letting people support us.”
You can donate to Evelyn's GoFundMe here.
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