For years, Michelle Blomley was baffled by her daughter Isabella’s growth. Though she’s now 7 years old, Isabella hasn’t changed much since she turned 2, leaving pediatricians in her native Australia baffled.
It wasn’t until a year ago, when Michelle broke down and appealed for the public’s help in identifying her daughter’s illness via Facebook that she found answers.
“Her body also produces growth hormone and enough of it to make her grow, yet it seems she hasn't aged since she was two years old,” she wrote at the time. “She grows very slow too, bone age X-ray undertaken Sept 2014 when she was 5 years and 9 months old, results came back of 2 years 6 months old.”
An unidentified woman from western Australia believes she found the answer -- trichorhinophalangeal syndrome in chromosome eight.
According to a GoFundMe created by Michelle to send her daughter to the U.S. for additional genetic testing, the disease is characterized “by thin, sparse slow growing hair, unusual facial features, abnormalities in the fingers and/or toes, and multiple abnormalities of the ‘growing ends’ (epiphyses) of the bones (skeletal dysplasia) especially in the hands and feet.” The disease is rare and only affects a few hundred people worldwide.
Michelle is sure her daughter has the condition, but she hopes to take Isabella to the U.S. to help doctors at the Mayo Clinic determine which variety of the syndrome she has. Still, even just knowing there’s an answer has been a relief to Michelle.
“Every time someone pulled me over they’d say, ‘she’s so cute, so tiny’, I’d literally have to stand there and tell them the five minute story of what we’ve gone through,” she told the Daily Mail.
“[Now I know] she’s got this.”
Michelle's online fundraiser had raised $1,135 in donations out of her $40,000 goal by Feb. 24. The money that isn’t used for travel will go to Isabella’s future medical expenses.