Patient Stories

Stirred by the 2014 Patient Advocacy Summit to Talk About the High Cost of Treatment


I tuned into the RARE Patient Advocacy Summit via the free livestream webcast specifically to hear Dr. Jim Olson’s Innovations in Science Presentation Brief on Project Violet. I was drawn by Dr. Olson’s public commitment to establishing a drug platform that will “rapidly and inexpensively” […]

Global Developmental Delays in Preston Leads to Birk-Barel Syndrome Diagnosis


Preston Kelley was born December 27, 2013. He spent the first three months of his life in the NICU at Children’s Hospital of Orange County CA. He was born full term at 5 lbs 10oz. He was born with hypotonia, a narrow cleft palate, feeding […]

Daughter Receives Mitochondrial Disease Diagnosis After She Stops Talking

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Ataahua McFarlane was two years old and developing like most toddlers her age when one day she suddenly stopped talking. It was out of character, recalls mum Christine McFarlane, who was left with countless questions. “It was pretty instant,” the West Harbour, Auckland, resident said. […]

Teen Swims for His Family’s Battle with Hereditary Angioedema

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Two teens are taking their love of swimming not to the local pool, but to the Boston Harbor. They’re swimming across the span to help one of the boy’s families in battling a deadly disease. Time Warner Cable News reporter Katie Eastman caught up with […]

Parents Hold Fundraising Walk for South Dakota Children with Myasthenia Gravis


Carter has been intubated 11 times. He’s just 6 years old. Hattie, 3, can barely open her eyes. Josh’s muscles gets so fatigued that he slurs his words, and the 40-year-old has a difficult time reading bedtime stories to his daughter. All three Spearfish residents […]

To All Mothers: An Open Letter by Gina Szajnuk

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To All Mothers, I am Gina Szajnuk.  My mission is to set the standard of care for all families on a diagnostic odyssey by making whole genome sequencing available to them through their insurance company as well as to help families emotionally and financially living with an undiagnosed […]

Laura Makes Sister’s Batten Disease Top Priority


Some of my coworkers stayed late at the office recently for their annual fantasy football league draft. When the email went out a couple of weeks ago, I considered joining in. I thought it’d be fun to show some of the guys this girl knows […]