CZI Biohub Rare As One Archive

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"Now I Knew Where We Were Going," by Sophie Muir

Sophie spent years fighting for a son no one could diagnose. Then a letter arrived with six letters and a number.

#parenting a child with a rare disease #improving diagnosis #building a rare disease foundation

"Now I Knew Where We Were Going," by Sophie Muir

"The Problem Solver," by Seung Chun

When Seung Chun’s young son is diagnosed with a rare genetic mutation, she tries desperately to find a treatment.

#parenting a child with a rare disease #research agenda/strategy

"The Problem Solver," by Seung Chun

"When Laughter Becomes an Opportunity," by Lauren Beauregard

When her daughter’s rare condition attracts attention from strangers, Lauren Beauregard worries about the impact it has on her.

#parenting a child with a rare disease

"When Laughter Becomes an Opportunity," by Lauren Beauregard

"What Am I Doing?" by Christine Kelly

When Christine Kelly is in her freshman year of college, she’s diagnosed with Hodgkin's lymphoma.

#living with a rare disease

"What Am I Doing?" by Christine Kelly

"Finding the Trailhead," by Jane Gunther

After a year of dating, Jane Gunther’s boyfriend reveals that his family has a rare disease.

#living with a rare disease #genetic disease #genetics/genetic testing #building a rare disease foundation #community engagement

"Finding the Trailhead," by Jane Gunther

"Still Fighting," by Angie Weaver

Angie Weaver holds onto an unshakable belief that her daughter, who has a rare SCN2A disorder, will beat the odds.

#parenting a child with a rare disease #genetic disease

"Still Fighting," by Angie Weaver

"Standing Together," by Carlos Guerrero Anderson

After multiple relapses, Carlos Guerrero-Anderson takes a chance on an experimental treatment for his rare cancer.

#community engagement #living with a rare disease

"Standing Together," by Carlos Guerrero Anderson

"The Dream Job," by Zollie Yavarow

One scientist's journey to finding her dream job began with the announcement of the first gene-edited humans.

#patient-driven research #genetics/genetic testing

"The Dream Job," by Zollie Yavarow

"The Advocate I Never Planned to Become," by Necia Sabin

Necia shares her journey to finding her voice to help others.

#parenting a child with a rare disease #building a rare disease foundation

"The Advocate I Never Planned to Become," by Necia Sabin

"Finding Our Voice," by Amanda Gale

When her toddler is diagnosed with a rare genetic disorder that disrupts communication, Amanda Gale must learn how to interpret sound without language.

#parenting a child with a rare disease #genetic disease

"Finding Our Voice," by Amanda Gale

"A STAR Lights the Way," by Jessica Foglio

Jessica Foglio was a singer, deeply committed to her craft. Then everything changed when her son was born with a genetic disorder.

#parenting a child with a rare disease

"A STAR Lights the Way," by Jessica Foglio

"The Simple, Powerful Act of Sharing Knowledge," by Ana Pataki

What began as her family’s journey through our younger son’s rare pediatric cancer diagnosis became Ana’s path into patient advocacy.

#parenting a child with a rare disease #patient-driven research

"The Simple, Powerful Act of Sharing Knowledge," by Ana Pataki

"Up at Night," by Jennifer Sills

After being told “good luck” was the only plan for her daughter’s rare disease, a mother finds a path forward for her family and others around the world.

#parenting a child with a rare disease #genetic disease #building a rare disease foundation #community engagement

"Up at Night," by Jennifer Sills

"Flying Fish," by Andrew Longenecker

A fish, a bird, and a flying child reshaped everything Andrew Longenecker thought he knew about love, science, and resilience.

#parenting a child with a rare disease #building a rare disease foundation #research agenda/strategy

"Flying Fish," by Andrew Longenecker

"This Tiny Voice Inside My Head," by Liat Vaknin-Nisan

Liat Vaknin-Nisan shares a defining moment from her daughter’s hospitalization, when fear, medical uncertainty, and maternal instinct collided—and her voice became essential.

#parenting a child with a rare disease

"This Tiny Voice Inside My Head," by Liat Vaknin-Nisan

"My Sister Callie," by Rocky Tucker

Rocky Tucker’s younger sister Callie is the 121st person to be diagnosed with Alstrom syndrome.

#living with a rare disease #genetic disease

"My Sister Callie," by Rocky Tucker

"Until We Weren't," by Cat Woolrich

Cat’s young son Callum has a seizure.

#parenting a child with a rare disease

"Until We Weren't," by Cat Woolrich

"We Can Still Go to Zambia, Right?" by Shayanne Martin

Shayanne Martin dreams of doing community health work in Zambia, but her daughter is born with a host of medical challenges.

#community engagement #parenting a child with a rare disease

"We Can Still Go to Zambia, Right?" by Shayanne Martin

"Hope for Our Entire Family," by Jenifer Merriam

Jenifer Merriam's 14-year-old daughter started dropping her pencil and her hairbrush, and struggled with her studies. Something wasn’t right.

#parenting a child with a rare disease #genetic disease #genetics/genetic testing

"Hope for Our Entire Family," by Jenifer Merriam

"The Bridge That Built Me," by Ivana Badnjarevic

The Old Bridge in Heidelberg became the metaphoric turning point where a mother transformed from engineer to patient advocate.

#parenting a child with a rare disease #community engagement #building a rare disease foundation

"The Bridge That Built Me," by Ivana Badnjarevic

"I Hope My Family Will Say It Was Worth It," by Michaelle Jinnette

All Michaelle Jinnette ever wanted was a big family—but when her fourth child arrives, her picture-perfect life is thrown unexpectedly off course.

#parenting a child with a rare disease

"I Hope My Family Will Say It Was Worth It," by Michaelle Jinnette

"Connection Is the Most Powerful Medicine," by Nancy Musarra

When Nancy Musarra’s young son looks at his newborn sister and says, “This baby is broken,” she can no longer ignore the possibility that something is seriously wrong.

#parenting a child with a rare disease #improving diagnosis

"Connection Is the Most Powerful Medicine," by Nancy Musarra

"She Is Nesba," by Scotty Sims

When Scotty Sims' daughter is born something seems off to her, but everyone around her dismisses her concerns.

#parenting a child with a rare disease #improving diagnosis

"She Is Nesba," by Scotty Sims

"From the NICU to the Podium," by Ada Lio

When motherhood took an unexpected turn into the world of rare disease, Ada Lio transformed from a Type A planner into a community leader—building the very hope she once searched for.

#parenting a child with a rare disease #community engagement

"From the NICU to the Podium," by Ada Lio

"When Will We Grow out of This?" by Sarah Chamberlin

Sarah Chamberlin is the mother of a child with a rare disease, and she finds herself torn between her instinct to focus on practical problem-solving and her daughter’s need to make sense of what her future might hold.

#parenting a child with a rare disease #genetic disease

"When Will We Grow out of This?" by Sarah Chamberlin