Finding cures for children's genetic diseases

Eva's Story

Katherine Pym and husband Daniel dreamt of the life they would have with their first child. Dreams without limitations, of everyday life playing out how it had for them as children. They were the thoughts of expecting parents who hoped to provide the best possible start to life.

But on July 16, 2010 Katherine and Daniel had to come to terms with a new reality.

“Initially it was shock. You have this dream when pregnant how everything will be and then that gets shattered. You go through a day-to-day process dealing with it and grieve that loss of this life you’d made up and first it’s shock, then anger, grieving and then acceptance. Well this is how life is.”

Their daughter Eva was born full term weighing just 1.86kg. Within the first 24 hours of this little girl’s life, she was rushed to Neonatal Intensive Care at Westmead Children’s Hospital where she was diagnosed with Cardiomyopathy.

She’ll eventually need a heart transplant. But it was the diagnosis which followed that would send Eva’s parents on a hunt for answers. Eva was diagnosed with 6q23.5 -25.1 deletion four weeks after birth and at the time was the only one in the world with this deletion.

“All they (doctors) could do was point us in the direction of a unique organisation in the United Kingdom which had material on duplications and deletions. We went to them for information and anything we could find out about chromosome 6 and there was only one document. We were left in limbo.”

But Kathryn and her family soon found solace in an unlikely place.

evaandmum.jpg“I think Facebook helped us come to terms with everything. Through a chromosome 6 group on Facebook we could connect with other families worldwide. We found there’s a study in the Netherlands for chromosome 6 and we’re constantly looking for answers. All we can do at the moment is go off what other families have been through, but even then every child is different. Still it’s really important when you have this idea out there that you’re going to have a perfectly healthy child and that doesn’t happen, don’t feel alone."

“Surround yourself with great people who know what you’re going through – other parents with special needs kids so you can ask or get an idea of if she going to crawl? At what age will she walk? – it’s good to talk to people going through the same thing.”

As for Eva’s heart of gold stricken with dilated cardio myopathy, all her family can do is treat the symptoms and possibly brace for an interstate move to Melbourne if she ends up having a heart transplant.

So a priority in the Pym household is to make every day as special as Eva.

“She’s the happiest kid, she’s so funny. She’s constantly saying, ‘daddy’ because he’s her favourite at the moment and everyone she meets it’s like she opens their eyes.”

One day we will beat childhood diseases. Until then, we need your support.

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