Patient stories

At Santhera, we have a set of core values that guide our decisions and actions every day: Commitment, Passion, Respect, Collaboration, and Accountability. And while we strive to infuse those values into all our efforts, nothing illustrates them greater than these stories of living with rare diseases.

Santhera partnered with the organization Living in the Light to highlight nine individuals who allowed us an intimate view of their challenges, successes, hopes, and dreams. Reading their stories, we hope to give them a sense that they are not alone and that Santhera will continue to work hard for them, to share their stories, and to help raise awareness of each disease in which we work to develop treatments. These stories provide the compass for our work.

“I want to be as independent as possible, while I still can.”

– Tayjus | born October 1995 | Cambridge, Massachusetts | Living with DMD

Tayjus lives with Duchenne muscular dystrophy (DMD), a genetically inherited disorder characterized by the progressive degeneration of muscles. Boys who are diagnosed with DMD appear to be born with normal muscular function, but soon lose their strength, beginning in their legs. Tayjus was diagnosed when he was five. Click here to meet Tayjus.

“My biggest goal was still having the perception that I could do anything."

– Jessica | born March 1986 | Tucson, Arizona | Living with LHON

At age 27, she was newly employed with her first “real job” out of college. She always dreamed of buying her own home and had finally found one she could afford. But just as she was finalizing the paperwork, a problem arose. Her vision had changed; she couldn't see out of her left eye. Click here to meet Jessica.

“I’m definitely grateful for everything I have. There are a lot of things I can’t do, but there are so many things that I can.”

– Anthony | born January 1993 | Bedminster, New Jersey | Living with DMD

Anthony maneuvers himself down the ramp behind his family’s suburban home, which is surrounded by sprawling acres of picturesque New England farmland. The sun is beginning to set, but it is unusually hot for an afternoon in May—too hot for Anthony to spend much time outside because sweating bothers him. Click here to meet Anthony.

“I want people to see visually impaired people as assets, not as helpless.”

– Chaz | born September 1993 | Littleton, CO | Living with CMD

As a freshman at the University of Hartford, he ran cross country and finished the year as the team’s top freshman runner. He has run in the Paralympics and most recently the California International Marathon—all without being able to see. Chaz was born with perfect eyesight. One morning his freshman year of college, his vision suddenly changed. Click here to meet Chaz.

"God is very strong. Trust to God. He makes us strong.”

– Amin | born June 2006 | Los Angeles, CA | Living with DMD

Ali, Mastooreh, and Amin live in an apartment in Beverly Hills with panoramic windows that let in the light and vistas of the surrounding hills and city life below. While sharing their delicious meal, Mastooreh and Ali gracefully describe their most difficult journey—their son’s Duchenne muscular dystrophy (DMD) diagnosis and their emigration to the United States, to find the best available treatment. Click here to read about Amin's story.

“My main focus is to create more adaptive, accessible, universal, and barrier-free designs."

– Jason | born April 1985 | Columbia, MD | Living with DMD

The pursuit of barrier-free and universal design has become both a necessity and a passion for Jason. A wheelchair user since the age of 11, he lives in a world where solutions to his needs around mobility are rarely well-developed. Harnessing the ability to redesign buildings and devices is a tangible route toward empowerment for the aspiring draft architect—transforming hardship into constructive acts. Read more about Jason and his ambitions here.

“...what guides me is always maintaining a positive attitude...

– Siddharth | born May 1995 | Cupertino, CA | Living with DMD

...and remembering that my disability can be my greatest ability," Siddharth says.
His story is full of inspiration for young men with the disease, who undoubtedly hold similar aspirations and capabilities. For Siddharth, realizations about his condition came with his diminishing physical abilities. “I gained an understanding of it a few years later, when I started to see that there were a number of things I could not do at the pace of other kids.” He struggled to make friends and found himself socially isolated. Read more about Siddharth and his ambitions here.

“...I want to make a difference in the world—not just for me—but for others with Duchenne.”

– Kyle | January 1995 - July 2018 | Yorba Linda, CA | A Life with DMD

Months of genetic testing revealed that Kyle had been born with DMD and he and his family began to cope with the facts of the terminal condition, which still has no cure. Dishearteningly, Kyle accepted that he would no longer be able to play sports, or so he thought. Read more about Kyle's life here.

"Come on! Let’s play,” exclaims Olivia.

– Olivia | Born January 2012 | Kansas City, KS | Living with CMD

“Olivia is unique because she is so verbal,” reflects Sara [Olivia's mother]. “Olivia speaks up. We do this for Olivia and for all the other kids too.” Furthering her knack for civic engagement, Olivia helped redesign a playground in her neighborhood. Managing Olivia’s medical needs have also proved challenging. “We are lacking an integrated team,” explains Matt [Olivia's father]. Read more about Olivia and her family here.