The little girl who stopped growing: Family finally get answers after years of searching
After years of doctors’ visits, it took just 24 hours on social media for a family to get answers about their daughter’s mystery condition.
Isabella wasn’t growing at a normal rate, her speech was delayed and her face had barely changed as she aged.
She has also never needed a haircut, because it doesn’t grow.
Her mum, Michelle Blomley, has spent years trying to get answers as to why her daughter was ‘frozen in time’.
The family had approached Northern Territory doctors to conduct tests on the little girl but they all came back normal.
Isabella didn’t show any genetic abnormalities and she was producing the proper level of growth hormone.
The Humpty Doo family was sick of not knowing so they took to Facebook and got an answer within a day.
'Does anyone know anyone who knows anyone that could help us find out what's 'wrong' with Isabella?' Ms Blomley wrote, in a post that showed how her daughter hadn’t changed much since she was two years old.
The mother was then swamped with messages from all over Australia – and then a total stranger gave them the answer they sought so desperately.
A woman from Western Australia messaged her a picture of her own little boy, who has Trichorhinophalangeal syndrome.
Ms Blomley told Daily Mail she knew instantly it was what Isbaella had.
“I knew she had it straight away… I teared up,” she said.
Relieved to have finally received an answer, Ms Blomley set up a Go Fund Me page so the family can send Isabella to the Mayo Clinic in the United States.
They hope DNA testing will figure out what type of the syndrome she has.
This will help the family plan her future.
It’s believed there are only three other cases of the syndrome in Australia, and a few hundred documented worldwide.
You can help the family here.
