When parents, Blaise and Rob, welcomed their first daughter Eleanor into the world, it wasn’t as smooth as they had hoped. At just five-days-old Eleanor was rushed to hospital.

After spending her first month of life surrounded by beeping machines, little Eleanor was finally able to go home. However, at four-months-old, parents Blaise and Rob noticed that Eleanor was not meeting her developmental milestones. By eight months, it actually appeared she was going backwards.

“It was my first baby; I didn't really know what I was looking for, but I could just see she wasn't developing like she should have been,” explained Eleanor’s mum, Blaise.

“I think I was also in a bit of denial, thinking that she was just delayed because she had a hard start to her life, and she would catch up. But that didn't happen.”

Then at eight-months-old, Eleanor started to have epileptic fits and was transferred to Sydney Children’s Hospital, Randwick (SCH).

After routine evaluations, genetic testing and sleep studies, it was clear that Eleanor had a serious condition, but doctors weren’t able to give her family an answer.

It wasn’t until 2019 that Eleanor took part in a world-first global study headed up by geneticist, Dr Emma Palmer that Eleanor’s symptoms were explained. Through collaboration with international colleagues, Dr Palmer was able to describe for the first time the disorder CHEDDA - congenital hypotonia, epilepsy, developmental delay and digit abnormalities, a very rare genetic disorder caused by changes to the ATN1 gene on the 12th chromosome.

Eleanor was the first patient in the world to be given this diagnosis. Since then, almost 20 people have been diagnosed worldwide. Dr Palmer says it was incredibly rewarding to give Eleanor and her family a diagnosis. 

“If I can find an answer and close the period of not knowing for families, I feel like I’m empowering them,” Dr Palmer said. 

Blaise says that the most important part of having a diagnosis was finally knowing that Eleanor’s condition was not degenerative or terminal.

“There were definitely some tears shed. I'll never forget that moment. It was bittersweet, a relief, and a bit sad as well. But exciting because they found it. They finally got the diagnosis,” said Blaise.

“Not only did the diagnosis show us that Eleanor was on the right path with her therapies, but it also confirmed that her condition was not inherited, which meant we could make an informed family planning decision.”

While Eleanor’s condition does mean she is severely disabled and 100% dependent on her parents, she is still a bright and bubbly little girl who loves swimming, lights and chocolate cake.

Now nine-years-old, Eleanor (or ‘Nellie’ as she is affectionately known) is stable and doing well. She attends a special needs school and has since become a big sister to seven-year-old, Beatrix.

The special bond the two sisters have for one another is exceptional.

“Beatrix is quite protective of her sister. She'll help feed her and during COVID, at home, she was running a little daycare for her. It was called Beatrix's Daycare and Nellie was her only student.”

“It’s definitely been a roller coaster, but the hospital has always been really supportive of Eleanor and of us as a family. And it's just nice to have such knowledgeable people assisting us with all the medical issues that she has,” says Blaise.

Eleanor’s treatment involves medication for her epilepsy and reflux. She has regular check-ups and sees various departments across the hospital - including physiotherapy, occupational therapy, speech therapy and hydrotherapy.

Though Eleanor’s future is an unknown, the family holds on to the gift of living in the present and appreciating each day as it comes.

“We didn't know, with Nellie's condition, what it would mean or how long she would be with us. So we just try to make the most of things. We still try to have adventures with her, if it's possible,” says Blaise.

This Christmas, the family hope to go on a caravan park holiday near a beach or river to reflect on the journey they have been through and celebrate being able to still come together as a family.

“All the specialists have been really supportive in trying to figure out what else they can do to help Nellie live her best life.

If it wasn't for the Sydney Children's Hospital, Randwick, I’m not sure if Nellie would be here with us today. It's invaluable that we've got such an amazing hospital in Sydney to support sick kids,” said Blaise.

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