The Ringel Family believes action is hope.
The “diagnostic odyssey” to properly identify our condition was long and complex. Our family has been navigating vision loss for two decades.
Starting in middle school, Stevie presented with vision issues. He struggled to see the whiteboard in class and started striking out a lot more in baseball. While learning to drive at age 16, it became clear something beyond what normal glasses could fix was wrong.
The Ringel Family sought experts across the country in Chicago, Philadelphia, and Boston to get a diagnosis. After meeting with 5 retinal specialists, Stevie eventually was diagnosed based on his symptoms with a non-classical presentation of Retinitis Pigmentosa, an inherited disease affecting light sensing cells in the retina. The prognosis was unclear - vision could remain for decades or be lost quickly and completely. The advice our family received was to come to terms with the diagnosis and the limitations that come with it.
Several years later, Stevie’s younger sister Natalie had similar vision issues and prior experience allowed for a faster diagnosis.
At this point, genomic sequencing technology had advanced enough that the Broad Institute in Cambridge sequenced the entire family’s whole genomes and determined an ultra-rare gene called KIZ was responsible for both Stevie and Natalie’s vision loss. At the time, Stevie and Natalie were the only known patients sequenced in the United States (since then, 18 more in the US have been genetically diagnosed, and this implies an estimated ~200 cases globally).
KIZ-mutation driven Retinal Dystrophy is an inherited genetic eye disorder caused by mutations in the KIZ gene. For the Ringel family, both parents are carriers of 1 faulty KIZ gene copy, each passing the copy to Stevie and Natalie. As a result, a critical protein (called Kizuna) responsible for maintaining the health of rod cells in the eye is not produced properly. Without this protein, both Stevie and Natalie are losing visual ability each year, leading to blindness by mid-adult life.
In direct response to these events, Stevie started a career in biotechnology and joined multiple non-profit boards to learn as much as possible about cutting edge approaches to fight blindness. While these experiences continue to be extremely useful for our family and the broader visually impaired community, there were no companies or non-profits directly building a treatment for KIZ. Due to its small patient population of ~200 patients globally, it was highly unlikely that any other organization would ever develop a treatment in time to save Stevie and Natalie’s sight.
Ringel Family at family wedding
Ringel siblings seeing Paris
We launched Kizuna Foundation because we are unwilling to accept the loss of our independence.
Proven science means we don’t have to.
Kizuna Foundation was started by Steven (Stevie) Ringel to develop an individualized treatment for himself, his younger sister Natalie, and the ~200 other patients globally with an inherited retinal disease caused by a mutation in the gene KIZ.
The encouraging news for the Ringel Family, KIZ patients, and many others with ultra-rare inherited retinal diseases is that there has been meaningful scientific progress in the past 15 years that has led to the development of clinically approved treatments for more common retinal diseases. After studying these case examples and spending 1000s of hours with many different types of scientists, researchers, biotech executives, and clinicians, it became clear that it was possible to utilize this already established science to assemble a customized treatment specific to KIZ patients. Funding and developing this therapy for KIZ patients is the first objective of Kizuna Foundation.
“We are grateful for your support - it gives us the confidence and ability to keep fighting to save our sight.”
-Stevie and Natalie Ringel
Ringel family on hike near home in Arizona
Stevie and Natalie Ringel in kayak