Family of little girl with Batten Disease raise funds for a clinical trail abroad

Evelyn, who turns seven next Thursday, is battling a rare condition called Batten Disease which has taken her eyesight within the past year.

“Evelyn can remember what Santa looks like, she met him a few times before she lost her sight,” says her mum Jolene.

Jolene and Evelyn’s dad Eddie, who live in Balbriggan, Co Dublin, also have a daughter Grace (8), who has Down Syndrome, and son Benjamin (4).

Batten is a disease of the nervous system that typically begins in childhood, involving a group of disorders.

Evelyn’s genetic testing showed there was a deletion on a gene called CLN3. Life expectancy for CLN3 is generally late teens to early twenties.

Eyesight goes first, followed by issues with the brain, including epilepsy, learning issues, dementia, and finally mobility.

“I think any time myself and my husband got time to ourselves for those first few weeks after Evelyn was diagnosed we just cried, because that’s all we could do,” says Jolene.

“Because you are looking after two other children as well as the child with Batten’s disease. You can’t really stop and feel sorry for yourself, because you have to look after these kids, you have to keep going.”

The accountant created a GoFund campaign three weeks ago to raise money for Evelyn to take part in clinical trials abroad, and it has raised more than €60,000 so far.

“There is clinical trial using a medicine, Miglustat, and the next phase is for younger children,” she reveals.

The HSE covers the costs of €8,000 a month for that medicine.

Evelyn is still a happy-go-lucky girl.

“She comes home from school and after she has done her homework she wants the television on,” smiles Jolene.

“She has never complained, she has never said ‘I can’t see’. There is a cognitive delay, she is definitely not at the level of a six-year-old thinking.

“She’s at the level where she’s not asking too many questions.

“We are kind of grateful for that, because it would be harder for her if she was very aware of what is going on. She’s generally a very happy child.”

• You can donate to Evelyn’s GoFundMe page at Help Evelyn’s Battle with Batten Disease (CLN3) on gofundme.com