Summer Mudford is an art and animal-loving primary schooler, whose favourite thing is to pick up her microphone and start the morning singing her heart out. She also ends her days belting out music, dreaming of singing with her favourite popstar Pink. Music is medicine for the young Cambridge local, who sadly lost her eyesight at eight.

In late 2021, Summer, now aged nine, was diagnosed with an extremely rare form of Batten disease, which affects the nervous system, causing worsening vision, movement and cognitive function. At home, her parents Vanessa, 43, and Ray, 41, compare it to the movie Benjamin Button, where the lead character ages backwards. Little is known about Summer’s type of Batten disease, called CLN1, and there is no cure. Devastatingly, it’s also fatal.

“When Ray and I found out we were having a girl at the ultrasound, he hugged and kissed the sonographer, saying, ‘Wait a minute. Have you ever got this wrong?’” laughs Vanessa, 43, who also has three sons in their 20s with high-school sweetheart Ray.

“We were so excited to have a daughter, and we named her Summer because we knew she was going to be our little joy.”

Before Vanessa noticed Summer squinting her right eye while watching TV, she was a healthy, book-loving kid who enjoyed doing Brazilian jiu-jitsu and playing with friends.

“I asked if her eye was sore and she said no, but the following morning, I saw her right eye was looking completely to the side,” Vanessa recalls. “We thought maybe it was lazy and she’d need glasses to correct it. Summer got glasses – they didn’t work – and her eye was getting worse, so the optometrist referred her to a specialist.”

Summer Mudford is an art and animal-loving primary schooler, whose favourite thing is to pick up her microphone and start the morning singing her heart out. Photo / Juliette Drysdale; hair and makeup / Kylie-Ann Roughan

Within five minutes of the appointment, the Mudfords were told it wasn’t Summer’s eye and she was referred to Waikato Hospital for an MRI. After being told it could be a brain tumour, the couple learnt their daughter has Batten disease.

“It’s the most cruel disease,” Vanessa shares. “They told us her brain is decreasing in size, she’ll lose her vision and mobility, have childhood dementia and seizures or cardiac arrest. They also said she can go at any time. I vomited for over a week after and couldn’t eat, and Ray was a mess.”

As far as doctors, scientists and Summer’s parents are aware, she’s the only person ever in New Zealand to be recorded as having CLN1. Since professionals were unable to give Vanessa and Ray much information about their daughter’s rare disease, the doting parents started researching and haven’t stopped.

Now, part of managing Summer’s symptoms includes having a tight routine at home. She comes home from school at midday during the week and is fed, showered and in bed at the same time each night.

“It’s the most cruel disease,” Vanessa shares. “They told us her brain is decreasing in size, she’ll lose her vision and mobility, have childhood dementia and seizures or cardiac arrest. They also said she can go at any time." Photo / Woman's Day

Although Summer knows she has Batten’s and has been talked through her symptoms, she doesn’t know she’s dying. Vanessa and Ray made the tough decision because of the way their daughter’s brain processes information, which includes fixating on things.

“For example, if you tell Summer she can have an iPod in a few weeks, that’s all you’ll hear about from the moment she wakes up until she goes to bed,” tells Ray, who has multiple sclerosis (MS), a disease of the nervous system that affects movement, sensations and body functions. “Summer fixates on things because of her Batten’s. Her brain will focus right down until she gets it.”

Summer also experiences absent seizures, where she suddenly turns her head away and appears to be daydreaming. Episodes usually last around 10 minutes and her parents can’t snap her out of it. Instead, they’ll touch her on the shoulder to let her know they’re there. She also experiences gelastic seizures, which cause her to giggle uncontrollably, sometimes for hours, and Summer has no idea she’s doing it.

Since former truck driver and machine operator Ray is also sick, diagnosed with MS in 2007, Vanessa stays home to care for him and their daughter. As well as losing feeling in his left arm and hand five years ago, Ray has experienced bouts of temporary vision loss and paralysis, accompanied by daily fatigue, brain fog and weakness.

“Now to have my daughter terminally ill, I think, ‘If she can do it, I can do better for her’,” says the loving dad, whose treatment includes steroid infusions. “I won’t bow down to the illness. I’m meant to be in a wheelchair, but I’ve defied the odds a bit there. I’m stubborn, and I see that in Summer too.”

“Now to have my daughter terminally ill, I think, 'If she can do it, I can do better for her',” says the loving dad. Photo / Juliette Drysdale; hair and makeup / Kylie-Ann Roughan

Despite Summer’s challenges, including being declared legally blind just two months after her diagnosis, her bright and loving personality still shines through.

“Summer is one of the strongest people I know, even though she struggles,” enthuses Vanessa, whose husband describes her as a superwoman. “She went from being independent to having me shower and dress her, but she still does it with a smile.”

“Ever since she was little, Summer used to say that seeing people smile made her heart sing. If we were in town and she saw an elderly person with a lovely knitted cardigan, she always had to stop and tell them how nice they looked.”

The couple hope that as Summer’s disease progresses, she’ll always know that the feeling of touching noses means Mum and Dad. Photo / Juliette Drysdale; hair and makeup / Kylie-Ann Roughan

The trio has a tradition where whenever they say goodbye, they put their noses together like a hongi and move side to side. Summer started it when she was little. “Now she has lost her vision, that’s what we do, and we always ask if she knows what it means,” Ray says. “She replies, ‘Mama and Dada’.”

The couple hope that as Summer’s disease progresses, she’ll always know that the feeling of touching noses means Mum and Dad.

“Summer still smiles every day, and when people ask how we’re doing it, we say we weren’t given a choice, but while she’s happy, it keeps us going,” Vanessa concludes. “We always tell her she’s very special and very loved, and we won’t ever give up.