Rosie’s condition “de novo”

Our genetic reports came back earlier this week and we finally have results as to why Rosie was born with Nemaline Myopathy.

In November 2016 both Iain and I went to the hospital in Bristol to give blood. This was tested to identify whether we carried any variants of the ACTA-1 gene – the gene thought to be causing Rosie’s condition.

The letter confirmed that both Iain and I did not have any variants of this gene, meaning that Rosie’s condition has arisen ‘de novo’, Latin for “from the beginning” – basically it’s occurred for the first time.

Rocking daddy’s favourite hat!

I thought finding out would bring revelations – my logical brain could make so much more sense of it if Iain or I had been found to have a variant. Finding out that it was “just one of those things” has left me with even more questions and what that truly means for the future should we want to extend the family.

That said, the letter did explain that help would be available to us for prenatal diagnosis and we can chat to a genetic counselor if or when we get to that point. So it’s good to know that we can understand more about it in the future.

I guess for now it makes no difference. Rosie is still our precious gift helping to draw out strength we never knew we had and opening our minds to the world of disability and encouraging us to find ways to help others.

She is a shining light in our lives and we feel so privileged she chose us for parents.

Rosie at the cinema on Saturday watching ‘Sing’


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