The power of social media strikes again. Facebook helped this mum finally get a diagnosis for her little girl.

The Daily Mail reports of a family who had been visiting doctors for years to get a diagnosis for their sick little girl only to find the answer they had been searching for just 24 hours after asking for help on social media.

Michelle Blomley’s daughter, Isabella, was not growing at the typical rate for a child. At nearly six years old, the little girl was the size of a ‘normal’ two-and-a-half year old.

Doctors conducted tests on the girl, from Humpty Doo near Darwin, but they all came back normal and didn’t show any abnormalities.

michelle fb

The mother was so sick of not having any answers she took to Facebook, where she found her answer in less than a day.

‘Does anyone know anyone who knows anyone that could help us find out what’s ‘wrong’ with Isabella??,’ she wrote.

‘Genetic and Chromosome tests that her Paediatrician has done so far have all came back ‘normal’ and not showing any abnormalities, 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.’

michelle fb 2

A woman from Western Australia saw the post after it had been shared into a mother’s group – and told the family their daughter had  Trichorhinophalangeal syndrome.

The mother knew this because she recognised the symptoms suffered by Isabella as the same suffered by her son.

That was a year ago – Mrs Blomley has since set up a Go Fund Me page so that she can fly to Minnesota’s Mayo Clinic in America with her husband, Isabella and her four other children to get answers.

There are only a few hundred people with documented cases of Trichorhinophalangeal syndrome world wide.

Michelle wrote on GO Fund Me that “Trichorhinophalangeal Syndrome (TRPS) in Chromosome 8,  is characterised 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”.

We wish them all the best.

Share your comments below.


  • Beautiful to find answers and clarity and hope they were able to get some kind of treatment in the States for their little princess.

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  • The power of social media it is lovely to see it being used for something good rather than nasty stuff

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  • I love to see social media used for the greater good, not for people to air their dirty laundry! This article absolutely needs to go up on the facebook page (again?) with the go fund me link.

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  • It must be a massive relief to know the cause of the problem. I hope they get answers and ongoing support from the Trichorhinophalangeal syndrome community once they finally get to the US. Given the low incidence of the syndrome worldwide, it’s understandable that the NT paediatrician had not encountered the issue before. Wishing them all the very best for the future.

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  • Oh wow, awesome! There’s so much negative stuff on social media, it’s wonderful to see a positive story

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  • oh wow! i am amazed that doctors didn’t provide some kind of answers first.

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  • It will be a huge relief for the family to have answers and a plan of attack to get a treatment plan in place. For me, not having a diagnosis was 10 times worse than finally having answers and starting a life-long treatment plan. For a rare medical condition, it is difficult to connect with others who truly understand what you are going through, your fears, your bad days, and your triumphs. Its fantastic that these two families from WA and NT have been able to find each other.

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  • There we go….the positive aspect of the internet. We hear so many negative stories about the net…its lovely to read a positive one.

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  • Wow, I’m so glad they have finally got answers.

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  • Hopefully the families will be able to give each other emotional support.
    With a diagnosis hopefully they can find helpful treatemnt for their daughter much soon than would otherwise been possible

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  • Having an answer is a really important first step.

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  • Incredible! The power of Facebook. It’s so much easier to fight against something if you know what it is!!

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  • Amazing what the power of an online community can deliver. So glad they finally have some answers.

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  • Finding this diagnosis would have been like finding a needle in a haystack. This mother must be so happy to finally have an answer to her daughter’s condition.

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  • If only there were more good stories like this to come out of social media. So glad they have a diagnosis. Best of luck to the family.

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