When Stephen and Zsuzsanna Mitten put their six-month-old baby to bed in their Killorglin home one night in 2019, they never expected that she would soon end up in the hospital with a condition so rare that Irish doctors couldn’t pinpoint it.
Marley Mae, now two and a half, had been a happy, albeit tired, baby before she became the first person in Ireland to be diagnosed with EARS 2, a mitochondrial disease that leads to developmental delay, feeding difficulties, and seizures. As they adjust to life with Marley’s condition, the family is hoping to help raise vital funds for the Jack and Jill foundation’s Up The Hill campaign.
"Marley got a tummy bug when she was about six months,” Zsuzsanna explains. “We knew there was something going on but we put her to bed one night and she woke up a different child. She lost everything. Beforehand, she was crawling and sitting up and babbling. She was a happy baby. After she woke up that morning, all of that was gone."
Zsuzsanna and Stephen had noticed that Marley had been more fussy and tired than their first two children leading up to her infection, but they hadn’t realised there was anything serious going on. She started crying constantly after six months, which they now know was down to her experiencing seizures.
It took nearly a year for the family to get a diagnosis, as Marley is only one of 20 people with EARS 2 worldwide.
"We were told that they were 80% sure it was a mitochondrial disease, but they just didn't know which one because all of her samples needed to be sent to England and that took more than six months. It was awful because the doctors just didn't know anything about it. They had no experience with it,” Zsuzsanna says.
“She’s much more comfortable now. She’s progressed a lot. The abilities she lost are coming back slowly but we have to work very hard.”
Marley is now on medication that helps to stop her seizures, but even a common cold could put her in the hospital.
"The mitochondria in the body give you energy and Marley basically doesn't get that energy. She can just about sit up on her own now but it's only for a few seconds and we need to be with her. There's brain damage there as well,” Stephan says. “Anytime she gets an infection she can regress because the body doesn't make enough energy to fight it.”
A home nurse from the Jack and Jill foundation first started with the family before Covid-19 hit. She had to suspend household visits for three months last year due to lockdown, but since her return, Stephen and Zsuzsanna have noticed a big difference in Marley’s abilities.
"I said no to a nurse at first. We were just in shock. I didn't want anyone coming into the house when we first found out because I thought Marley would die. But then Bridann started and she is amazing. Marely and our two boys all adore her. We noticed a big difference in those three months that she wasn't there. She's coming twice a week now and it makes all the difference,” Zsuszanna says.
“Especially because we don’t have family in this country. My husband is English and I’m Hungarian. We have nobody here, just our nurse and we love her. She is part of our family now. There are a lot of other families out there that need more help and that's why Jack and Jill is so important."
The Mittens are just one of over 396 families that are currently benefitting from Jack and Jill's vital at-home services, but as Zsuzsanna points out, there are more families who need help.
Funds raised from this years Up The Hill campaign will go straight to helping children in need.
"The past 18 months have been an uphill struggle for everyone and our Up The Hill fundraising challenge is still a steep one. That’s why we’re depending on our circles of family, friends and work colleagues to take this challenge, which is all about community helping community, and to get together to take on their local hill for a good local cause," says Jack and Jill CEO Carmel Doyle.
Register to climp a hill for Jack and Jill at www.jackandjill.ie.