My 8yo daughter has a super rare condition - she’s trapped inside her own body

“I remember doctors saying, ‘Your child has this condition, but unfortunately we don’t have anything to help you,’” Sydney mum Emma recalled. 

In many ways, Grace is like any other eight-year-old. She loves to play dress up, laugh and play with her friends, and spend time with her brothers.

The Sydney girl, however, is unlike any other 8yo. 

She spends her time in a wheelchair, cannot walk or stand, has difficulty sitting unaided and finds it severely challenging to speak.

Take a look inside her head, however, and you'll find her exactly how you’d imagine a child to be. But due to an extremely rare condition, her body simply won’t cooperate.

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Grace is the second person n the world to receive the diagnosis. Source: news.com.au, Children's Medical Research Institute

Sydney 8yo is the second person in the world to receive diagnosis

“She understands everything,” Sydney mum Emma told news.com.au. “She’s not intellectually impaired. That’s all been tested. She’s very intelligent.”

“As she’s getting older, she gets frustrated if we don’t understand her.”

Born in 2015, her parents described the little girl as a “precious pink bundle of joy” who was meeting all her milestones.  

But four months into her life, Grace caught a virus, soon becoming floppy and failing to thrive; at six months, she could barely hold her head up.

As a nurse, mum Emma knew something was wrong with her daughter, but she didn’t know what it was. 

“[The pediatrician] said to put her on solids at four months and she was gagging on that,” she said. 

“At six months, he said ‘I think we’ve missed something’. And I said, ‘I haven’t missed anything. I’ve been saying something’s wrong the whole time.’”

After years of countless blood tests, two MRIs, a spinal tap and a genome sequencing procedure, doctors were still stumped. 

It wasn’t until 2018, three-and-a-half “agonising” years later, that doctors finally had a diagnosis: ADCY5 Familial Dyskinesia - a neurological disorder that inhibits a person from controlling movement.   

Only two people on the globe are known to have the disorder, making it one of the rarest in the world. 

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Grace "lights up" when she sees her two brothers. Source: news.com.au

“... unfortunately, we don’t have anything to help you.” 

The ADCY5-Related Dyskinesia diagnosis was “bittersweet”, Emma recalled, as they felt a sense of relief they finally had an answer. 

“We were so relieved to finally have some answers and to find out our daughter had a normal life expectancy and intelligence,” she said in a fundraising campaign. 

Although there was a diagnosis, there is no known cure for the disorder. 

“I remember doctors saying, ‘Your child has this, but unfortunately, we don’t have anything to help you,’” she recalled to news.com.au. 

Despite the hurdles she faces every single day, Grace takes on life with an enormous smile on her face. 

According to Emma, Grace’s face “lights up” when she sees her older brothers, 16-year-old Will and 13-year-old Oliver. 

“She loves playing pretend vets, dolls, playing with her friends at school,” she said. “She’s got an amazing compassion. I feel like she teaches us all to be so grateful.” 

According to the US National Organisation for Rare Diseases (NORD), because the disorder is so rare, there is no standardised treatment protocol for those affected. 

Because Grace’s condition is so extremely rare and isn’t terminal, she is less likely to receive a grant for research. 

But there’s is a sliver of hope for the Sydney child, as Associate Professor Wendy Gold from the Children’s Medical Research Institute at Westmead is keen to study Grace’s condition. 

Grace’s family are raising funds via the Children's Medical Research Centre to support the study of the ultra-rare condition.

Together, they hope to find a way to “halt the progression” of Grace’s condition or improve her daily life. 

You can find out more about Grace’s fundraiser here.

Originally published as My 8yo daughter has a super rare condition - she’s trapped inside her own body