WE'LL NEVER TAKE CHRISTMAS FOR GRANTED

Emily Delamaine is cherishing every moment with her family after her daughter was diagnosed with a rare genetic condition

- NICOLA K SMITH

This year, my husband Paul and I are planning an extra special Christmas. We're hoping to spend it in the countryside, in our cosy holiday caravan, with our two beautiful daughters, Penelope, seven, and Amelia, six. We'll have a tree, lots of fairy lights, and we'll all cuddle up in front of the Disney classics. I can't wait. It will be very different from our Christmas six years ago, soon after Amelia was born. During my pregnancy, we'd been warned that our baby had bilateral club foot, a condition causing a deformity in both feet. But we were reassured when further tests for genetic abnormalities came back clear.

Yet as soon as she arrived by caesarean on 29 November 2019, Paul could see Amelia was desperately ill. She was blue and floppy, and struggling for breath. She also had a cleft palate. 'Go with her,' I told Paul as Amelia was rushed to the special care unit. On the recovery ward, it was very hard to see other mums with their babies, as at that point I had no idea what was happening to mine.

SHOCKING NEWS

After three days I was discharged, but Amelia wasn't feeding and couldn't leave until she was stronger. Back home, Paul and I were distraught, especially when we saw the empty cot and drawers full of baby clothes. But we had Penelope to look after, so we just had to keep going. The week before Christmas we were given devastating news – Amelia had a rare genetic condition called nemaline myopathy, which affects the muscles and swallowing. We had never heard of it, but tests since have shown that both Paul and I carry the recessive gene that causes the condition. That meant our children had a 25% chance of inheriting it.