Mabel's story (SMA)

It’s the phone call you never want to receive and, somehow, the one you become most grateful for.

Most parents probably don’t remember agreeing to newborn screening. In the chaos of labour and the haze of those first postpartum days, you say yes to a heel-prick test that happens alongside the hearing and heart screenings. You’re told you’ll only receive a call if something comes back positive.

Then you go home, begin life with your new baby and likely forget all about it.

We did.

The phone rang the day before our newborn photoshoot. Our daughter was just one week old.

There is no way to prepare for a call like that. She had been born healthy. She ate, slept and looked completely perfect. So what did they mean when they said she had screened positive for something called spinal muscular atrophy?

They tell you not to Google. They warn you not to doom-scroll. But if you’re anything like me, somewhere between the tears and breakdowns, you will.

You’ll fall deep into a rabbit hole of old research, new treatments and frightening possibilities. You’ll write down every question you can think of, trying to prepare for a meeting that is only 15 hours away.

You arrive exhausted, terrified and desperate for clarity and, more than anything, an action plan.

The doctors and nurses may not know exactly what you are feeling in that moment, but they have walked other families through it before. They know how to meet you in your fear and help you see the hope waiting on the other side.

That phone call changed our lives.

In the beginning, everything felt heavier. The fear felt all-consuming. But I promise, that feeling does not last forever.

Today, Mabel is 22 months post-gene therapy, and it would be almost impossible to see any difference between her and another 23-month-old toddler.

She walks. She runs. She talks. She plays. She lives a full, joyful, and vibrant life.

And the reason she had the opportunity to receive treatment before symptoms appeared is because we said yes to newborn screening.

At the time, we had no idea how important that decision would become. We didn’t understand that a simple test could completely alter the course of our daughter’s life.

The next best thing we can do now is share our story, so expecting parents understand that newborn screening is not just another routine test.

It can provide answers before symptoms begin.

It can create choices where families once had none.

And, for children like Mabel, it can change everything.