Daisy’s Story: From Cardiology to Genetics

A Familiar Start

We knew from the beginning that Daisy would need an echocardiogram. There’s a hereditary heart condition in our family, and our son had also been born with a hole in his heart, so we weren’t surprised when Daisy’s scan showed the same.

Nothing New—Or So We Thought

Her hole was classed as moderate, and although her referral was to a hospital 92 miles away, we were reassured it was routine. We weren’t overly concerned.

The appointment was in February 2024. It was a long day but straightforward: physical observations, another echo, then finally, we sat down with the doctor.

The Words That Took Us by Surprise

He asked the usual questions—growth, feeding, development. We explained that Daisy was a little behind in her mobility. She wasn’t crawling or standing yet, but her physiotherapist was confident she’d get there.

And then, out of nowhere, came the words that caught us completely off guard:
“I’m going to refer her to genetics—I think there could be something more underlying.”

Wait—what?
Genetics?

We were here to talk about her heart.
What did he mean by “slight dysmorphic features”?
She is beautiful.

He also added, due to the size of the hole in Daisy’s heart if it didn’t close on its own, she would need surgery.

I Knew I Shouldn’t Google It…

I spent the whole drive home Googling, desperately trying to piece together what he could have meant. I knew I shouldn’t—but I did.

He had gently explained that individually—her developmental delays, heart defect, and a small skin tag on her ear—these could all be coincidences. But together, they might point toward a genetic condition.

The Genetics Appointment

In May 2024, we met with the genetics doctor. She examined Daisy carefully and explained that she could request the first line of genetic tests, but they might be rejected by the lab. There wasn’t enough clear evidence to meet testing criteria.
“If it weren’t for the hole in her heart,” she said, “we probably wouldn’t be sitting in this clinic today.”

It was a strange feeling — relieved and uncertain all at once. At the same time, I found myself wondering if it was somehow my fault. Had I done something wrong during pregnancy? Eaten something I shouldn’t have? I’d struggled with severe sickness and couldn’t keep my pregnancy vitamins down. Did that have a negative effect? Those questions quietly weighed on me, even as I tried to stay hopeful.

We were told to expect results by early autumn. So we did our best to tuck it away in the back of our minds.

One day in June

And then, one day in June, I got the phone call.

I was at work.
“Daisy is being taken to hospital by ambulance. Meet them there.”

In that moment, everything shifted.

What we thought was going to be a slow wait for test results suddenly became something far more urgent—and frightening.

But I’ll share what happened next in my next post.