Brisbane family’s pain as little girl diagnosed with rare degenerative disease

When Araliyah Nikolovski struggled to walk or run like other kids at kindy, her mum thought she would improve. Then came a devastating diagnosis.

Araliyah Nikolovski with her mum Karlie Kilpatrick. Picture: Patrick Woods.

When Araliyah Nikolovski struggled to walk or run like other kids at kindy, her mum Karlie Kilpatrick thought that was just who she was, believing she would eventually improve.

Then two months ago, the Bridgeman Downs family learned Araliyah, 5, suffers from Emery Dreifuss muscular dystrophy (LNMA AD).

The degenerative disease affects the muscles, causing atrophy and weakness. But the subtype LNMA means the disease attacks her heart and lungs too, putting a timeline on her life.

Fewer than one in 100,000 people have been affected by Emery-Dreifuss, and there is sparse research on how to best treat the condition.

It was a heartbreaking and confusing few weeks for Ms Kilpatrick and her family, who were struggling to come to terms with how Araliyah would eventually fall behind her friends.

“When they told us everything I kept asking if was there anything I could do. Is there anything I can change? Are there any treatments? Is there anything to prolong this?” she said.

Araliyah’s mum describes her as a “funny little character”. Photo: Patrick Woods.

“They just said there was no cure, there was nothing that we can really do. It’s kind of a watch and wait.”

As Araliyah’s condition was progressing quickly, Ms Kilpatrick immediately took her to regular hydrotherapy, cardiology and physio appointments.

The Year 1 student already needs a scooter to help her move around.

“She needs help getting dressed, she needs help in the shower. She needs help because we have stairs in our house. She can’t really go up them and I need to carry her,” Ms Kilpatrick explained.

“There are already so many things that I’m doing for her daily and we aren’t even at the bad part yet. There are so many things my two-year-old is doing more than my five-year-old.

“So it has been hard, she has those appointments every week. We do physio, and hydrotherapy every week, then she’s got hospital appointments or doctor appointments in between”.

Ms Kilpatrick said it was heartbreaking to see Araliyah, who was typically a bubbly, vibrant personality, slowly decline as the disease progressed.

“She just loves singing, dancing and she loves putting on a show, and she’s just such a funny little character,” she said.

Araliyah Nikolovski with her mum, Karlie Kilpatrick. Photo: Patrick Woods.

“So to see that already being declined with her not being able to express herself how she wants to, it’s just really hard and unfair.” 

Ms Kilpatrick explained she couldn’t bring herself to have the conversation about what was happening with Araliyah until she was more mature.

Now Ms Kilpatrick is fighting for more research into the rare disease – “I am just trying to spread the word … just so we can get more research and hopefully get some other people to know about it and talk about it,” she said.

Originally published as Brisbane family’s pain as little girl diagnosed with rare degenerative disease