"Mad Libs" by Barbara Goodman

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

community engagement, fundraising, social media/disease awareness

"Finding My Community," by Elizabeth Ann

community engagement, fundraising, social media/disease awareness

Elizabeth Ann has trouble adjusting to a career at a non-profit, until something clicks about what it means to advocate for rare disease.

community engagement, fundraising, social media/disease awareness

parenting a child with rare disease

"Rare Resilience," by Ann Geffen

parenting a child with rare disease

A mother recounts her journey as her 3-year-old daughter battles Kawasaki disease, a rare and potentially life-threatening condition.

parenting a child with rare disease

parenting a child with rare disease, improving diagnosis

"Searching for Answers," by Zoe Wisnoski

parenting a child with rare disease, improving diagnosis

Zoe Wisnoski's son has a high fever so she searches for answers that are not always so easily given.

parenting a child with rare disease, improving diagnosis

patient-driven research

"Finding Confidence," by Tanya Brown

patient-driven research

Scientific Director Tanya Brown shares her story of growing in confidence as a scientist, inspired by her mother's resilience and perseverance.

patient-driven research

parenting a child with rare disease, improving diagnosis

"Answering the Shrug," by Yssa DeWoody

parenting a child with rare disease, improving diagnosis

When a doctor offers only a shrug in response to her daughter’s exam, Yssa DeWoody sets off on her path to becoming an advocate.

parenting a child with rare disease, improving diagnosis

parenting a child with rare disease, genetic disease, improving diagnosis, animal models

"Reason to Hope," by Melissa Chaikof

parenting a child with rare disease, genetic disease, improving diagnosis, animal models

When Melissa Chaikof receives first learns that her daughters are profoundly deaf and then, when they are older, that they are also going blind, she cannot sit back and wait for others to find a cure.

parenting a child with rare disease, genetic disease, improving diagnosis, animal models

parenting a child with rare disease, community engagement

"The Power of Finding Your Community," by Tracy Milne

parenting a child with rare disease, community engagement

When Tracy Milne's young son is diagnosed with a rare disease, she finds hope in community.

parenting a child with rare disease, community engagement

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

"The Day My World Changed," by Maddison Hall

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

After dreams of a perfect parenthood, Maddison was thrown into the rare disease world and became an unexpected advocate for her daughter and others in the Glut1 Deficiency Community.

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

parenting a child with rare disease, community engagement, drug repurposing, social media/disease awareness

"Can We Fix It?" by Kasha Morris

parenting a child with rare disease, community engagement, drug repurposing, social media/disease awareness

This is a story about fixing an impossible problem in an unexpected way.

parenting a child with rare disease, community engagement, drug repurposing, social media/disease awareness

parenting a child with rare disease, improving diagnosis

"What's Wrong With My Baby?" by Julie Raskin

parenting a child with rare disease, improving diagnosis

Julie Raskin recalls her son's birth and strange variation of nursing and sleep of the first two days of his life.

parenting a child with rare disease, improving diagnosis

community engagement, parenting a child with rare disease, building a rare disease foundation, improving diagnosis, patient-driven research, social media/disease awareness

"That 'Spinning Room' Moment," by Jill Kiernan

community engagement, parenting a child with rare disease, building a rare disease foundation, improving diagnosis, patient-driven research, social media/disease awareness

This is a story about one family's rare disease journey and the birth of a community.

community engagement, parenting a child with rare disease, building a rare disease foundation, improving diagnosis, patient-driven research, social media/disease awareness

living with a rare disease, genetic disease

"Driving Miss Dorie," by Dorie Shapiro

living with a rare disease, genetic disease

Prepare to be entertained by the thrilling saga of Dorie's fearless teenage driving escapades!

living with a rare disease, genetic disease

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

"Super Bowl Sunday: Diagnosis Day," by Erin Coller

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

After a year of seeking answers and a diagnosis for her toddler son’s delays and seizure, Erin Coller shares how, one Super Bowl Sunday, a phone call from the neurologist changed their lives forever.

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