Isabella Blomley is seven years old, but hasn’t changed a bit since she was two. While her family has struggled to get any explanation from doctors, it took just 24 hours on Facebook to find out what the young girl’s mystery condition could actually be.
A concerned mother in Humpty Doo in Northern Territory, Australia, has finally had some success in her anxious search to find out why her daughter hasn’t changed since she was two years old, via social media.
Isabella hasn’t been growing at a normal rate, her speech was delayed, and her face and hair have hardly changed as she ages. Reportedly she has never even needed a haircut, as her hair doesn’t grow. According to her mother, Michelle Blomley, it’s like her daughter is “frozen in time.”
Michelle has been trying for years to get answers from doctors as to why her daughter isn’t growing, but without success. Tests run by doctors in the Northern Territory of Australia always came back as completely normal. The girl has no genetic abnormalities, and she has been producing the correct level of growth hormone, but never changes in appearance at all.
Recently Michelle and her family took to Facebook to try and get an answer, and reportedly it took only 24 hours.
Explaining that her young daughter hasn’t changed a bit since the age of two, the Facebook post read, “Does anyone know anyone who knows anyone that could help us find out what’s ‘wrong’ with Isabella?”
The little girl who stopped growing: Mother turns to social media after her daughter’s mystery illness stumped… https://t.co/hfnMFNJ0Yn
— Social Answers (@socialanswers) February 24, 2016
The post received many comments and messages from all over Australia including several suggesting various natural medicines. Finally a total stranger gave the family the answer they had been looking for so desperately via a Facebook message.
A woman from Western Australia sent Michelle a picture of her own little boy via Facebook messaging. That woman’s son has what is known as Trichorhinophalangeal syndrome in chromosome 8.
According to the website of the National Organization for Rare Disorders (NORD), Trichorhinophalangeal syndrome is an extremely rare inherited multi system disorder determined by two genes, one received from the father and one from the mother. Most sufferers of the syndrome reportedly exhibit delayed bone aging and growth retardation, resulting in short stature.
Michelle told the Daily Mail she knew straight away this is what Isabella had.
“I knew she had it straight away… I teared up.”
Relieved to finally have a possible answer to the mystery of Isabelle’s lack of growth, the Blomley family has now set up a Go Fund Me page to raise money to send Isabella to the Mayo Clinic in the United States. It is hoped that DNA testing will finally reveal what type of syndrome the young girl has, thus helping the family to plan for her future.
In the description on the Go Fund Me page, Michelle explains the situation with her young daughter and asks for help in raising awareness to the syndrome.
“Please help us raise AWARENESS on TRPS which often goes undiagnosed, and please help us raise money to get Isabella and ourselves to America (Rochester, MN Mayo Clinic) for Molecule testing and specialist care to plan ahead for her future.”
The page ends with the plea, “Every dollar – every cent donated will help ten fold, not just financially but to know we have support from the Community.”
According to Yahoo 7 News, it is believed there was only three other cases of the Trichorhinophalangeal syndrome in Australia and only a few hundred cases have been documented worldwide.
[Photo via Facebook]