Every child deserves to live life to its fullest.

Most pharmaceutical and life-science companies focus on research with commercial potential thus, ultra-rare diseases are often overlooked because the economics don’t add up. Our aim is to bring funding and scientific resources to the forefront so ultra-rare genetic disease research and development progresses at the same pace as diseases with more patients. Columbus Children’s Foundation helps children with these diseases and their families to gain access to transformative genetic medicine. 

What is gene therapy?

The aim of gene therapy is to restore normal function by repairing or replacing genes in patient’s cells, stopping or even reversing the effects of life altering disorders. In recent years,  advances in gene therapy have changed lives and are showing great promise for those suffering from neuromuscular conditions, heart disease and even certain forms of cancer.  As a result of therapeutic treatments available today, we have seen children walk and run when without the treatment they would be unable to rise from a wheelchair.  The Columbus Children’s Foundation are only at the beginning of a medical renaissance that genetic medicine will lead. 

"3 of 10 children with a rare disease
won’t live to see their 5th birthday"

Meet Rian.
A life changed with genetic medicine.

At four years old, Rian’s body was still like a newborn’s — she couldn’t support her own head, she could not eat on her own, or play the way other children like her brother could. She was born with an ultra-rare genetic disease called Aromomatic l-amino acid decarboxylase deficiency (AADCd) also commonly referred to as Pediatric Parkinson’s.

“She had absolutely no functional, purposeful movement,” Rian’s mother, Shillann Rodriguez-Pena, told CTV News. “It essentially was like her body was a prison that she was trapped in.”

Thankfully, Rian was eligible for a innovative gene therapy surgery developed by leading gene therapist, Dr. Krystof Bankiewicz. In September of 2019, Rian became one of the first recipients of this transformative genetic medicine that had the promise of giving her the life her parents only dreamed about.  

Within weeks of treatment, Rian began to move,  hold her head up and then began to grab objects. Now, at six years old, she can sit on her own and is starting to walk. She can go to the park, eat chicken nuggets, and laugh with her brother. 

“It really is modern day miracle stuff,” said Rian’s mother. “The science is absolutely miraculous and we are so, so grateful.”

Meet Irai.
A beautiful girl reborn to all of life's possibilities.

Irai was born on July 16, 2014, a seemingly normal child during her first weeks until it became obvious that something was wrong. A year after her birth, a diagnosis was made. She suffered from an ultra-rare disease known as Pediatric Parkinson’s. This deficiency causes the brain to seem disconnected from the body, keeping her from moving, speaking and being able to live a normal life.  

Everyday life with Irai was extremely difficult. She barely slept for even three hours at a time, and when awake, she was in constant pain.  Irai’s constant crying was a sign of her tremendous pain and suffering.

On May 14, 2019, at Poland’s Brodno Hospital, Dr. Krystof Bankiewicz, Professor and Director of the Brain Health Department at The Ohio State University and one of the world’s leading experts in juvenile Parkinson’s, would treat Irai. He and his team performed a highly complex gene therapy surgery that was a resounding success.

Today, Irai’s brain is able to create neurotransmitters that restore the connection between her brain and her body. She is walking, talking and laughing as a thriving pre-school student with a future her parents could have never imagined.

Join the Ultra Rare Celebrity Jam

The Ultra Rare Celebrity Jam featuring Joe Bonamassa and Friends promises to be a special weekend with many memorable moments. The Jam will bring some sweet music to those lucky enough to attend in a world-class setting at West Hollywood’s Sunset Marquis Suites and Villas.

Most important is the sound of the heart strings that will ring out for children with ultra-rare genetic diseases who desperately need treatments and cures before its too late.

Become an ultra-rare sponsor
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