Desperate mum’s plea as her young daughter is diagnosed with extremely rare disease that has ‘put a timeline on her life’

A young girl faces an uncertain future after she was diagnosed with an extremely rare and debilitating medical condition which has ‘put a timeline on her life’.

Five-year-old Araliyah Nikolovski showed symptoms and signs of something wrong, but doctors struggled to put their finger on it.

The Brisbane schoolgirl had several scans, X-rays and saw a specialist, but there wre no answers until genetic testing was completed at Queensland’s Children’s Hospital

That showed Araliyah has a condition called Emery-Dreifuss Muscular Dystrophy LMNA AD – a subtype that is even rarer than the condition itself.

Each person diagnosed with progresses at different rates due to how the body reacts to the LMNA gene.

‘For Araliyah unfortunately it is progressing very fast, we have already seen a decrease in her abilities to do day-to-day activities,’ her mum Karlie Kilpatrick said on a GoFundMe page.

‘This type of muscular dystrophy also affects her heart and lungs which is the worst part of it as it has put a timeline on her life.’

Araliyah is now struggling at school and on outings because she can not walk longer than 10-15 minutes without pain, and extreme exhaustion.

‘So for at school and bigger outings for her own independence she will be getting a motorised scooter that she can control herself,’ Ms Kilpatrick told Daily Mail Australia.

‘We will also be getting a stroller for outings so we can push her around and she feels more comfortable and it’s easier on her and us.’

While Araliyah doesn’t like the stigma around wheelchairs, she will need one in the future regardless.

She will also require regular monitoring in hospital and possibly a pacemaker or a defibrillator in the future.

As the condition is a form of muscular dystrophy, the young girl’s muscles will get weaker and reduce over time.

‘She will need a mobility aid to help her get around and a lot of other devices to help her everyday living,’ Ms Kilpatrick said.

She said the condition explains why her daughter is very small for her age. The disease also affects her appetite. 

Ms Kilpatrick said that not only is Araliyah’s future and quality of life affected, but it’s a big change for the family too, including little sister Amyiah, who is aged two, and  also needs occupational and speech therapy.

‘Amyiah is too little to understand, but when they play together, Araliyah feels left out because she can’t do what all the other kids are doing,’ their mum said.

Ms Kilpatrick said she was ‘very hesitant to put up a GoFundMe because she’s not ‘really a person who asks for help, let alone money’. 

‘But with this diagnosis, we only found out about three or four weeks ago, and obviously with the NDIS, it takes a long time.

‘It takes a lot of money and funding to get reports and assessments done, and then they have to see her for a certain amount of time before they will give funding for those high priced items.’

Time is precious, though, and Araliyah needs a mobility scooter now so she can get around at school and at places such as shops.

‘She doesn’t want to go to the shops or come anywhere out with us because she can’t walk, she’s in pain, she’s hurting, she can’t keep up,’ her mum said.

‘And it makes her feel sad, so I normally have to push her in a trolley or I’ll have to carry her, but she does get too heavy for me, and I know that she feels bad.

‘So a mobility scooter is definitely something that I’m trying to get for her.’

Most of the people donating on GoFundMe are family and friends, with other people helping to spread the word through social media.

Ms Kilpatrick, who works for a gym, is not sure how much longer she will be able to work because of Araliyah’s condition and the fact that Amyiah also needs therapy.

‘It’s getting hard already because Araliyah has therapies three to four times a week and it’s really difficult to get times after school,’ she said.

‘And then I do have one day off, which is a Thursday, my other daughter also has her therapy, she’s got two therapies that day and Ari has two therapies that day.

‘So my whole day that I have off is just driving them to and from appointments.

‘And then Ari’s got two other hospital appointments this week, so I feel very overwhelmed and stressed already at the moment.’

Ms Kilpatrick said while she’s trying to work for as long as she can, she doesn’t know how much longer she will be able to.

‘In the future I will probably have to be Araliyah full-time carer and we will need to change everything,’ she said.

This will include moving house as where they live now has a stairs which the little girl is no longer able to get up, nor is it wheelchair accessible. 

They also need to a wheelchair accessible car. 

Ms Kilpatrick said these are expenses the family can’t afford right now, which is why they have set up the fundraiser. 

She also wants to raise awareness because there isn’t much research on Emery-Dreifuss Muscular Dystrophy LMNA AD.