7 Patients Who Are Leading the Charge Against Their Rare Disease

Stories of Patients and Their Quest for Cures

A growing number of patients are mobilizing to drive progress in the fight against rare disease. Together with their communities, they’re working tirelessly to pursue diagnoses, information, and support, and to accelerate research and identify treatments. The Chan Zuckerberg Initiative’s Rare As One Project is committed to supporting and uniting these communities in their quest for cures.

Hear inspiring stories from patient advocates who are accelerating research:

Nasha Fitter with her daughter Amara, who was diagnosed with FOXG1 syndrome. Along with two other mothers, Nasha founded the FOXG1 Research Foundation, dedicated to finding a cure for all children with FOXG1 syndrome, and perhaps even for brain disorders at large. Video by Joanna Rudnick/CZI.

“What gives me hope right now is that gene therapies are not science fiction.” — Nasha Fitter, mother, advocate, and CEO of FOXG1 Research Foundation

Nasha Fitter’s life changed the day she learned her daughter Amara’s FOXG1 syndrome diagnosis. Defeated, she ran through a list of “nevers” that Amara wouldn’t get to experience. But Nasha quickly turned her defeat into action and connected with three mothers of children with the same rare disease. In 2018, they launched the FOXG1 Research Foundation, a global non-profit working tirelessly to find a cure.

Like countless other parents, Nasha dedicates her life to this mission. She and a coalition of global families are driving research forward in their rare disease, pushing boundaries and operating on the cutting edge of science to find cures.

Onno Faber is using his entrepreneurial spirit to accelerate rare disease research. After being diagnosed with neurofibromatosis type 2, he founded RDMD to empower patients to be part of the solution in finding therapies. Video by Joanna Rudnick/CZI.

“There are limited resources in rare disease. We need to put all hands on deck and find a way to do this together.” — Onno Faber, neurofibromatosis type 2 advocate and RDMD founder

Onno Faber loves to sing. He’s also deaf in his left ear because of tumors caused by the rare disease neurofibromatosis type 2, which produces tumors in the brain and on the spinal cord. It may cause him to go fully deaf and blind one day. He currently takes a therapy approved for treatment of breast cancer that’s stabilized tumor growth on his right ear, but he’s still on the hunt for a cure.

Onno’s diagnosis inspired him to become a rare disease advocate and form RDMD so patients can access data and be empowered to drive their own research forward. He’s one of the many patients who’s using his entrepreneurial spirit and problem-solving skills to accelerate rare disease research.

When Tracy Dixon-Salazar’s daughter Savannah was five, she was diagnosed with Lennox Gastaut Syndrome — a severe form of epilepsy. Tracy got her PhD and found a treatment to help improve Savannah’s life. Photo by Joanna Rudnick/CZI.

“Patients can’t afford to sit around because we pay the ultimate price.” — Tracy Dixon-Salazar, mother, researcher, and rare disease advocate

When Tracy Dixon-Salazar’s daughter Savannah was five, she was diagnosed with Lennox Gastaut Syndrome — a rare disease that causes seizures and has a grim prognosis. “Our daughter Savannah has had over 40,000 seizures from age 3 -18. She tried and failed 26 therapies, and nothing worked. There was no advocacy group; no one talked about rare disease. It wasn’t until she was 5 that we got her that her diagnosis,” Tracy says.

Tracy knew she had to do something. She went back to school for a PhD in neuroscience to better understand her daughter’s disease and find a treatment. After years of searching, Tracy found a treatment that stopped Savannah’s seizures — she’s 26, and learning and developing again.

Dr. David Fajgenbaum is a patient and co-founder of the Castleman Disease Collaborative Network to accelerate research and treatment for Castleman disease. Video by Joanna Rudnick/CZI.

“I’m going to dedicate the rest of my life to trying to cure this disease.” — David Fajgenbaum, MD, MBA, MSc, Castleman disease patient, and Co-Founder & Executive Director of Castleman Disease Collaborative Network

Dr. David Fajgenbaum experienced significant organ failure and was on his deathbed when he was read his last rites. Fast-forward to today: David’s been in remission for over five years thanks to sirolimus, an existing FDA-approved drug that he identified through his own research.

Through the Castleman Disease Collaborative Network, a global initiative that he co-founded, David focuses on collaboration among patients, physicians, and researchers; clinical trials; computational and laboratory research; and patient community building. David is the first patient with Castleman disease to be treated with sirolimus. Now, his research is benefiting others with Castleman disease. David recently chronicled his journey and the steps he took in his memoir “Chasing My Cure.”

Emily Kramer-Golinkoff co-founded Emilys Entourage to drive research forward for the 10% of cystic fibrosis patients, like her, who don’t benefit from current therapies. Photo by Joanna Rudnick/CZI.

“People rise in unbelievable ways. You realize that you have strength and abilities that go beyond what you ever could’ve imagined.” — Emily Kramer-Golinkoff, cystic fibrosis patient and co-founder of Emily’s Entourage

Cystic fibrosis affects fewer than 200,000 people each year. About 90% of cystic fibrosis patients have a targeted therapy that has been approved or is waiting FDA approval, but Emily Kramer-Golinkoff, co-founder of Emily’s Entourage, is among the 10% of patients who have not benefited from these breakthrough therapies.

Emily’s Entourage has brought together researchers, the Cystic Fibrosis Foundation, and biotech and pharmaceutical companies to move new therapeutic strategies forward. Her foundation has awarded $3.8 million in grants to researchers seeking treatments for cures and breakthrough therapies.

Maria Kefalas founded the Calliope Joy Foundation and sold 45,000 cupcakes to start a clinical research center for her daughter’s Cal’s disease, called leukodystrophy. Video by Joanna Rudnick/CZI.

“We’re in the beginning of a new era. Gene therapy works, and we actually have treatments that are going to the FDA.” — Maria Kefalas, mother and co-founder of The Calliope Joy Foundation

Maria Kefalas’s son had a simple idea: Sell cupcakes to raise funds for his sister Calliope Joy, who has the rare disease leukodystrophy, and find a treatment option. Cal’s Cupcakes turned into something far bigger.

Today, the Calliope Joy Foundation has sold over 40,000 cupcakes and raised over $775,000. They now connect families to gene therapy. The organization also provided initial funding to help establish the Leukodystrophy Center of Excellence at the Children’s Hospital of Philadelphia. Maria knows that she won’t be able to save Cal, but she still fights to find a cure so that other children’s stories will be different.

Josh Sommer was diagnosed with a rare, malignant bone cancer called chordoma. As co-founder of the Chordoma Foundation, Josh mobilizes patients, researchers, and clinicians to find a cure. Video by by Joanna Rudnick/CZI.

“There’s so much potential to enable the next wave of patients and their family members, who are motivated to take on their own diseases, to move even more quickly and make rapid progress on rare disease.” — Josh Sommer, chordoma disease patient and Co-Founder and Executive Director of Chordoma Foundation

Josh Sommer was studying at Duke University when he started having intense headaches. Tests revealed his diagnosis: chordoma, a rare cancer that starts in the bones of the skull and spine. It’s so rare that just one in one million people are diagnosed each year.

After the tumors were removed, the real work began. He refused to accept the limited treatments available and has since joined forces with researchers, clinicians, and patients to find a cure. Josh joined with family, friends, and fellow patients to launch Chordoma Foundation in 2007 to help others like him through research, collaboration, and patient support.

More and more patients and their families are accelerating research and driving treatments for their rare diseases. Share your #RareAsOne story.

Chan Zuckerberg Science Initiative

Written by

Supporting the science and technology that will make it possible to cure, prevent, or manage all diseases by the end of the century.

Welcome to a place where words matter. On Medium, smart voices and original ideas take center stage - with no ads in sight. Watch
Follow all the topics you care about, and we’ll deliver the best stories for you to your homepage and inbox. Explore
Get unlimited access to the best stories on Medium — and support writers while you’re at it. Just $5/month. Upgrade