Today marks nine years since Diagnosis Day, the worst day of our lives by far.

There are no adequate words to describe the utter desperation and helplessness we felt as the words “it’s Krabbe” were spoken.

Being told there is nothing you can do is unimaginably cruel. Being told that catching it sooner would have brought options was unbearable.

We joyfully brought her into this world, but no amount of love, money, wishing, or tears could keep her here with us.

On that day nine years ago, I suddenly knew how I was supposed to spend my life. It all made sense despite the chaos and senselessness of the news. I was meant to advocate, to ensure that every child born with Krabbe disease (and others) has equal access to early diagnosis and treatment.

Advocacy is how I continue to be Tori’s mom.

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Two weeks ago, at the ACHDNC meeting, two members continued to focus on the fact that some parents decline treatment despite being diagnosed through Newborn Screening, and this frustrated me greatly because they used it to frame NBS for Krabbe disease as harmful. And, they ignored the fact that most of us weren’t given the option to decline treatment at all.

Rare disease parents aren’t looking for perfection in treatments; they are looking for options. And for many conditions, those options only come with an early diagnosis.

Lesa Brackbill

Our job as advocates is to give families OPTIONS for (and access to) treatment. They have the right to decline, as heartbreaking as that is. But it’s their choice to make, not mine.

As I often say, diagnosis will always be traumatic, but there’s a difference between diagnosis with despair (like us) and diagnosis with hope. Let’s continue to work to provide diagnosis with hope through NBS.

Tori, we miss you terribly. You are saving lives, but I wish more than anything that we could have saved yours.

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If you haven’t yet seen the short documentary made about Tori and our family by Forge Biologics, view it here.

And, if you haven’t seen the original documentary that was made while Tori was still with us, view it here.