NPR Stateside Podcast: One family's fight to find a cure for daughter's rare genetic disorder

Our own Bridget Finn and Sam Beaubien were interviewed on NPR’s Michigan Public - Stateside podcast. You can here the full interview about their journey with STXBP1-related disorders at one of the links below. Here’s a snippet from the NPR website:

The pandemic introduced new challenges for every family. For Bridget Finn and Sam Beaubien, who were expecting their first child during the pandemic, anxieties around the health of their baby were exacerbated by isolation and the overwhelming unknown. Even so, Florence (or Flo) was born, as perfect as she could be. The initial months of raising her, and learning how to be parents, were—in a comforting kind of way for her parents—associated with a familiar cast of fears and anxieties for all new parents. Finn recalled "worrying that her belly button would heal" or "worrying about catching COVID." But those initial months of Flo's life were, ultimately, "a quiet, peaceful, happy existence with our new kid."

Then, a few months into their lives as new parents, a phone call shifted their reality. Beaubien had just returned to work in the office and Finn was at an art gallery when she got the call. "My phone rang and I could see that it was the hospital [...] I said to the genetic counselor, 'Do you think it's best if I'm alone for this conversation?' She said 'yes." The four minutes that it took Finn to exit the building "felt like an eternity," she said.

The genetic counselor told Finn that Flo had a rare genetic disorder called STXBP1. According to the STXBP1 Disorders Foundation, the genetic disorder "impairs communication between neurons, specifically the vesicular release of neurotransmitter along the synapses." The disorder typically limits muscular tone and development, and can create lifelong issues with speech, communication, mobility, and more.

The family, Finn said, was "deeply traumatized and impacted by the grief of the diagnosis," but they soon adjusted to a new reality. Flo started doing nearly 30 hours of physical therapy a week, and her dad worked tirelessly with her on early skills like sitting up and talking.

"Every single time she met a goal, you could see the pride radiating from her," Beaubien recalled.

In addition to getting Flo the help she needed, the new parents also turned their grief into action. With the help of friends and advocates from a Facebook group, Finn started fundraising through a network that she knew well: art galleries. That eventually culminated into a foundation and fundraising effort called Flourish, which is aimed at increasing awareness, locating and developing therapies, and raising funding for clinical trials.

Initially, her parents worried that Flo would never be able to walk, but they said their daughter has accomplished more than they could have hoped.

"She has started dancing, which really, if I think too much about the dancing, I burst into tears," said Finn. "From going [from] we didn't know that she would walk, to now seeing her respond to her own musical taste, and move her body and her feet—it's just, it's incredible."

Listen to the full conversation with Finn and Beaubien above.

GUESTS ON THIS EPISODE:
Bridget Finn, Director, Art Basel Miami Beach
Sam Beaubien, audio producer and musician

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