These Mothers Turn Devastating Loss into New Hope for OTC

Loss is a terrible thing. It’s heavy and overwhelming, and for me, it’s sometimes such a weight that it can be hard to lift yourself up in the morning.

Yet, two mothers not only lifted themselves up after loss—they lifted the OTC community up with them.

Never underestimate the power of a parent whose child has a rare disease!
Hilary Pastorius and Robyn De Leon had never met before. They didn’t share friends or relatives, or live in the same state. They were complete and total strangers who shared a difficult connection.

These women had both lost their sons to ornithine transcarbamylase deficiency, or OTC. Due to a missing liver enzyme that contributes to protein breakdowns, OTC can lead to increased blood levels of ammonia. Vomiting, headaches, psychiatric symptoms may follow… It is, obviously, terrifying to new parents.

OTC is manageable, but difficult and extremely rare. As Pastorius explained:

“I didn’t know anybody in my community who’d been affected… even the doctors didn’t know anything.”

Loss is isolating in and of itself, you know? You wake up with the realization that someone you love, who you thought would always be there, is gone, and that certainty is gone forever.

But despite all that, time moves forward. People still go to work. They laugh. They buy groceries. While you’re still stuck in the moment when your life changed.

It’s a heartbreaking feeling, to be so alone. I can only imagine that’s doubly true when you have questions and doubts, not knowing anyone else who’s lost someone in a similar way.

So Pastorius turned to the Internet to find camaraderie and support, and eventually discovered the Connecting Families Urea Cycle Disorders Facebook page, created by De Leon and another woman named Amy Reese.

With the their help, Pastorius found resources, information, and the understanding she needed to make sense of her son’s passing and to help her now care for her daughter, who’s currently living with OTC.

That’s not all, though. In addition to providing a deep personal connection to questioning and concerned parents, De Leon and her husband continue to expand their page into a full-fledged non-profit.

They’re working to host events for families in-need, hold conferences, and on November 5th of this year, they had their inaugural fundraiser.

To learn more about Pastorius, De Leon, and the OTC Facebook group, I highly encourage you to read the full article here.

Through one link online, Pastorius finally had the answers she’d been looking for in her loss.

I hope this link and article can do the same for you.

For more information about OTC and Urea Cycle Disorders, visit the National Urea Cycle Disorders Foundation.

Kiki Jones

Kiki Jones

Kiki’s family loves to say, “People are like a baking project. At some point, they’re just done and they’re who they’re going to be.” Well, Kiki still has some baking to do, and she learns a lot from her loved ones living with chronic conditions, including mental illness and Behcet’s disease. With a BA in English, she’s using her skills to tell the stories of people like them.

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