A Condition So Rare – is Harmony the only one?

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Our story is about our beautiful girl Harmony Rose. This gorgeous bubbly girl is now 4 years of age but at 1 year old we knew something wasn’t right. Eventually at 17 months of age I decided to feel her little body over to see if I could pick anything up and I did – I ran my hand down her spine and it just didn’t feel normal. Our doctor organised x-rays to be done straight away.

We found out something was wrong with our gorgeous girl – they said it was metaphyseal Dysplasia Disease,  then went into Metaphyseal Chondrodysplaysia Disease, then Metaphyseal Enchondromatosis Disease. Unfortunately, to this day they don’t know what she has and have said it’s so rare she could be the only child in the world with it.

She has now been put on a research program to undergo 20,000 genetic testing to test 1 thing out at a time to rule things out.

Harmony’s disease is all through her body, it is just not in her hands or her head. Yes she can walk/run. She is such a smart little girl and is so amazing. We live in Grafton but amazing doctors and specialist at Sydney WestMead Children’s hospital have taken her on. Last year she has had major surgery on her hips and knees but we won’t know if her knees worked for another 2-3 years.

It’s hard to explain what Harmony’s bones are like but basically with her hips she had no hip or ball join in her arms. She has gaps and holes in her bones, in her feet/toes it looks like bones have just been chucked in and have to find their own way of joining together something like a puzzle. She has very bowed legs due to her condition and she is also very little. One day we hope to have answers. We hope to have a diagnosis but we do not and there is a very little chance of this.

Thank you for reading her story. It would be good to find someone in a similar situation, to help find a diagnosis for our little girl.