parenting a child with rare disease, building a rare disease foundation, genetic disease, genetic testing, genetics

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

parenting a child with rare disease, building a rare disease foundation, genetic disease, genetic testing, genetics

Shayanne Martin dreams of doing community health work in Zambia, but when her daughter is born with a host of medical challenges, she suddenly finds herself wondering whether the future she imagined is still within reach.

parenting a child with rare disease, building a rare disease foundation, genetic disease, genetic testing, genetics

parenting a child with rare disease, genetic disease, genetic testing, research network, patient-driven research

"Hope for Our Entire Family," by Jenifer Merriam

parenting a child with rare disease, genetic disease, genetic testing, research network, patient-driven research

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 rare disease, genetic disease, genetic testing, research network, patient-driven research

parenting a child with rare disease, building a rare disease foundation, community engagement, advocate

"The Bridge That Built Me," by Ivana Badnjarevic

parenting a child with rare disease, building a rare disease foundation, community engagement, advocate

The Old Bridge in Heidelberg became the metaphoric turning point where a mother transformed from engineer to patient advocate, building a supportive network for families affected by rare neurotransmitter diseases.

parenting a child with rare disease, building a rare disease foundation, community engagement, advocate

parenting a child with rare disease, genetic disease, KCNH1, genetic testing, genetics

"I hope my family will say it was worth it," by Michaelle Jinnette

parenting a child with rare disease, genetic disease, KCNH1, genetic testing, genetics

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 rare disease, genetic disease, KCNH1, genetic testing, genetics

parenting a child with rare disease, genetics, genetic testing, epilepsy, KCNA2, genetic disease

"Connection is the most powerful medicine," by Nancy Musarra

parenting a child with rare disease, genetics, genetic testing, epilepsy, KCNA2, genetic disease

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 rare disease, genetics, genetic testing, epilepsy, KCNA2, genetic disease

parenting a child with rare disease, found, genetic disease, community engagement, scientific conference

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

parenting a child with rare disease, found, genetic disease, community engagement, scientific conference

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 rare disease, found, genetic disease, community engagement, scientific conference

parenting a child with rare disease, advocate, genetic disease, genetic testing

"She Is Nesba," by Scotty Sims

parenting a child with rare disease, advocate, genetic disease, genetic testing

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

parenting a child with rare disease, advocate, genetic disease, genetic testing

parenting a child with rare disease, PKU, genetic disease

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

parenting a child with rare disease, PKU, genetic disease

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 rare disease, PKU, genetic disease

"Mad Libs" by Barbara Goodman

When her stepdad is diagnosed with a rare blood cancer, Barbara Goodman realizes her life’s work might be exactly what he needs.

genetics, genetic testing, improving diagnosis, genetic disease, research network, research agenda/strategy

"Speeding Up the Diagnosis Process," by Zhandong Liu

genetics, genetic testing, improving diagnosis, genetic disease, research network, research agenda/strategy

Scientist Zhandong Liu uses AI to speed up the diagnosis process.

genetics, genetic testing, improving diagnosis, genetic disease, research network, research agenda/strategy

parenting a child with rare disease, pancreatitis, living with a rare disease, improving diagnosis

"The Summer When Everything Changed," by Linda Martin

parenting a child with rare disease, pancreatitis, living with a rare disease, improving diagnosis

In the summer of 2016, Linda Martin received a call from her husband that changed her life forever.

parenting a child with rare disease, pancreatitis, living with a rare disease, improving diagnosis

genetic disease, genetic testing, research agenda/strategy, drug repurposing, patient-driven research

"The Gift," by Gareth Baynam

genetic disease, genetic testing, research agenda/strategy, drug repurposing, patient-driven research

Three Aboriginal children hold the key for unlocking important medical insights.

genetic disease, genetic testing, research agenda/strategy, drug repurposing, patient-driven research

parenting a child with rare disease, living with a rare disease

"Ben's Story," by Leah Myers

parenting a child with rare disease, living with a rare disease

In the first few months of her baby’s life, Leah Myers worries that something is off.

parenting a child with rare disease, living with a rare disease

parenting a child with rare disease, genetic testing, genetics, research network, patient-driven research

"Figuring Out Who I Am," by Katie Stevens

parenting a child with rare disease, genetic testing, genetics, research network, patient-driven research

Having become a mother at 18, this is supposed to be the year Katie Stevens figures out who she is — but then she discovers her 12-year-old son is terribly ill.

parenting a child with rare disease, genetic testing, genetics, research network, patient-driven research

genetic disease, living with a rare disease, patient-driven research, genetic testing, genetics, building a rare disease foundation

"The Family Curse," by Allison Peck

genetic disease, living with a rare disease, patient-driven research, genetic testing, genetics, building a rare disease foundation

Allison Peck and her husband are faced with the harsh reality of the genetic disease IBMPFD when their three-year-old outruns him.

genetic disease, living with a rare disease, patient-driven research, genetic testing, genetics, building a rare disease foundation

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

"Manageable," by Amy Wood

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

Amy Wood struggles to cope with her son's sudden brain tumor diagnosis, and managing the lifelong effects of his benign craniopharyngioma.

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

living with a rare disease, drug repurposing, building a rare disease foundation, social media/disease awareness

"Not Strong At All," by Kim McClellan

living with a rare disease, drug repurposing, building a rare disease foundation, social media/disease awareness

Kim McClellan reflects on her lifelong battle with recurrent respiratory papillomatosis and learns how to use her voice to fight for change.

living with a rare disease, drug repurposing, building a rare disease foundation, social media/disease awareness

patient-driven research, research network, research agenda/strategy, scientific conference

"Piece By Piece," by Kit Donahue

patient-driven research, research network, research agenda/strategy, scientific conference

After witnessing the disconnect between researchers and families struggling with mental illness, Kit Donohue is determined to bridge the gap between science and the people it aims to help.

patient-driven research, research network, research agenda/strategy, scientific conference

parenting a child with rare disease, building a rare disease foundation, transplant

"Maybe This Is Progress," by Mary Vyas

parenting a child with rare disease, building a rare disease foundation, transplant

After Mary Vyas’s son is diagnosed with PSC,, she is determined to be a living liver donor.

parenting a child with rare disease, building a rare disease foundation, transplant

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

"For King Nazir," by Lakeia Nard

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

Lakeia Nard fights for answers to her son's rare disease.

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

parenting a child with rare disease, improving diagnosis, drug repurposing, transplant

"The Next Bomb To Drop," by Emily Ventura

parenting a child with rare disease, improving diagnosis, drug repurposing, transplant

Emily Ventura is desperate to find answers about her baby’s mysterious illness.

parenting a child with rare disease, improving diagnosis, drug repurposing, transplant

parenting a child with rare disease, building a rare disease foundation, research network, patient-driven research

"A Picture Frame," by Axel Lankenau

parenting a child with rare disease, building a rare disease foundation, research network, patient-driven research

When Axel Lankenau is told that both of his sons have an ultra-rare, life-limiting neurological disorder, he is forced to confront a future he never imagined.

parenting a child with rare disease, building a rare disease foundation, research network, patient-driven research

parenting a child with rare disease, genetic disease, improving diagnosis, genetics, genetic testing, patient-driven research, building a rare disease foundation, social media/disease awareness

"Never Giving Up, One More Time ," by Nikki Stusick

parenting a child with rare disease, genetic disease, improving diagnosis, genetics, genetic testing, patient-driven research, building a rare disease foundation, social media/disease awareness

Science evolving is a good thing, but it’s not always the answer you hope for.

parenting a child with rare disease, genetic disease, improving diagnosis, genetics, genetic testing, patient-driven research, building a rare disease foundation, social media/disease awareness

parenting a child with rare disease, living with a rare disease, genetic disease, improving diagnosis, genetics, genetic testing

"Thankful," by Riley Blevins

parenting a child with rare disease, living with a rare disease, genetic disease, improving diagnosis, genetics, genetic testing

Riley Blevins went to work for Cure HHT in hopes of helping his son. But turns out, he wouldn't be the one doing the saving.

parenting a child with rare disease, living with a rare disease, genetic disease, improving diagnosis, genetics, genetic testing

parenting a child with rare disease, genetic disease, improving diagnosis, genetics, genetic testing

"Giving Up," by Heidi Wallis

parenting a child with rare disease, genetic disease, improving diagnosis, genetics, genetic testing

This is the story of a type-A rare disease mom who tries for years, but can't undo her daughter's brain damage, so she sets out to stop other children from facing the same fate, and learns in the interim that "giving up" is just what you need to do sometimes.

parenting a child with rare disease, genetic disease, improving diagnosis, genetics, genetic testing