Genetics - a whole new world

1 in 4. Those are our chances of having a baby with NKH.

Nonketotic hyperglycinemia, or NKH, is a very rare genetic disorder, caused by a defect in a child’s genetic coding which means that they can’t break down Glycine. Glycine is an amino acid that is found naturally in our bodies and we need it to grow and develop properly, but when it’s not broken down and accumulates, it effectively becomes poisonous. The result is severe disruption to movement and development, brain damage, seizures and muscle weakness. Children with NKH tend not reach milestones past those reached by a regular 6-week-old infant. It’s not pretty. It’s terminal and currently there’s no cure.

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Let's face facts

Most places I looked when I first lost Leo wanted me to drown in misery. They told me it was ok to stay in bed for a week and cry. But I didn’t want to do that. That’s just not me. Of course I cried and I still cry….but I also wanted to live my life and do Leo proud by being happy. I told him in the hospital that I promised not to drown in self-pity and that I would get dressed and look presentable every day - I would be the young, fun Mum I’d dreamt of being.

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Iceland - the south coast

Our day exploring the Golden Circle was the only sunny day we had in Iceland. When we woke up on the second day, clouds had rolled in and the wind had started to howl. We were warned that a storm was on it’s way and decided to cancel our glacier tour (having both done one previously in New Zealand, and given our lack of preparation in terms of clothing, this ended up being a very good call!)

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