At just two years old, little Scarlett Whitmore struggles to sit up or lift her head.
The Perth toddler has been battling a genetic disorder – and the condition is so rare, it’s thought only 30 people in the world suffer from it.
After undergoing months of therapy, her mother Kate Whitmore said her daughter still cannot walk, crawl, sit, or roll – but she has showed little signs of improvement.
Perth toddler Scarlett Whitmore with a rare genetic disorder cannot sit up or lift her head
‘Without our help, Scarlett can’t sit up, she can’t walk, she can’t do those things,’ Ms Whitmore told 7 News.
‘To us, it’s not a sad story, it’s a love story. We love her. But really, we’re like any other parents, we just want the best for our little girl.’
Her only became familiar with the disease after sending a sample of her saliva to researchers in the United States.
Physiotherapist Shannen King has been helping little Scarlett strengthen her muscles and teaching her how to sit up without support.
‘From when I first met her, she was a very floppy young baby. But now you can see, she’s able to sit with much less support,’ Ms King said.
The parents have set up a Facebook page called Scarlett’s Smile where they document their daughter’s journey.
The Perth toddler has been battling a genetic disorder – and the condition is so rare, it’s thought only 30 people in the world suffer from it
After her birth, the parents met with a pediatrician for their daughter’s reflux but were told she has hypotonia – a condition that causes her to have little strength.
‘Hypotonia seemed terrifying to us. Not only did it refer to a floppy and low muscle tone baby, but quite often indicated a serious underlying medical condition, be it viral, metabolic or genetic,’ her mother said.
‘Scarlett was also born with a cleft palate, club foot, and a level of vision similar to legal blindness, as well as being at high risk of seizures.’
Earlier this year, they learned Scarlett was unable to hold her head up, maintain eye contact, grab or seem interested in toys or showing any signs of milestone.
‘It was very hard to admit that, although 100 per cent perfect to us in every single way, Scarlett was different and we had to help her,’ Ms Whitmore said.
‘Six months on and unfortunately Scarlett still can’t do most of those things, but she has definitely shown a lot of progress and promise towards them.’
After undergoing gruelling therapy, Ms Whitmore said her daughter still cannot walk, crawl, sit, or roll – but she has showed little signs of improvement
Her parents said they remain hopeful her diagnosis will lead to new treatment.
‘I must admit it’s been hard not having a centralised diagnosis – as to what is causing all of Scarlett’s challenges,’ Ms Whitmore said.
‘And even though we are currently undergoing genetic testing, we have accepted the fact that we might never know.
‘Scarlett may never be able hold up her head, sit, roll, crawl, walk or any of those simple things we all take for granted.
‘And our only hope is that we can give Scarlett every therapy and assistance so that she can blow us all away with her progress.’
Her parents will be hosting a gala event at Perth’s Crown Towers Ballroom in February next year to raise awareness and money for her medical expenses.
To more information or to follow her journey, please visit Scarlett’s Smile.