Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) is a rare genetic disease first identified in the 1980s. It affects 100% of individuals who inherit the disease-causing gene mutation, and there is a 50/50 chance of each family member inheriting the disease.
In patients with RVCL, the small blood vessels in the body systematically shut down, including those in the retina. Typically, within 5-10 years of the onset of symptoms, patients succumb to the disease. As rare as this disease is — with only 200 people having been diagnosed worldwide — two sisters, Laura Friedman and Fran Jaskot, were diagnosed five years ago, and their family has been affected by RVCL for at least four generations.
At the time of diagnosis, Fran was fortunate to have seen a doctor in New York who was among the few familiar with RVCL. She was then advised to see Jonathan J. Miner, MD, PhD, who was subsequently recruited to the University of Pennsylvania in order to establish his laboratory and the RVCL Research Center. Fran and Laura recently completed participation in a small drug trial involving only 20 RVCL patients.
Inspired to Give: Funding the Search for an RVCL Cure
Today, Fran and Laura are doing all in their power to make a difference for others with RVCL. The sisters have dedicated their philanthropic efforts to help bolster research, improve treatment, and create awareness – every donation received supports Dr. Miner and his team, who use this important funding to further their research and educate the medical community about RVCL.
A Friend of Like Mind
Upon learning of the sisters and their shared condition, Renee Butler, a friend of Laura’s, was inspired by their story. As a 62-year-old woman, Renee has experienced a lot in her lifetime. When her son was 12 years old, he was diagnosed with chordoma — a rare type of cancer. And at age 60, Renee was diagnosed with metastatic melanoma, which she faces head-on with her medical care team. These challenges have encouraged her to give back and raise money for rare diseases that lack funding and research — such as RVCL, in honor of her friend Laura and her sister, Fran.
“When I first met Laura, I was not only inspired by her story, but by her positivity. As someone who has faced my own medical challenges, I have always found Laura's presence to be genuine, dear, and encouraging,” says Renee.
Laura has been by Renee’s side on the good days and encouraging her on the harder ones. “Sometimes, life throws obstacles your way, but it's important to never give up,” Renee says, speaking from experience. “Laura is the perfect example of that – she is not a quitter, and her positivity helps me through my own difficult times.”
RVCL Run/Walk Event
To raise money and awareness for RVCL in support of Laura and Fran, Renee decided to do what she loves most — running. She says, “I have always been a runner and I have completed multiple 100-mile races. I run a simple 2-mile loop, 50 times — it's as simple as that!”
As an avid runner, she decided to create the “Renee’s RVCL Run/Walk” event in Bethesda, MD. With the support of the community, the fundraiser has grown into something even bigger and better than expected.
Laura taught at nearby Poolesville High School (PHS) in Montgomery County, Maryland for 30 years, and students there wanted to give back as a community, inspired by Renee.
The Poolesville High School Cross Country Team hosted a Lap-a-Thon earlier this month at PHS. Each runner asked family, friends, and community members to donate money for each lap they completed at the track. Laura and Fran are so touched by Renee and the rest of the community. In effort to take this fundraiser to the next level, Laura and her husband, Jeff Friedman, plan to match the total donation made to Renee's RVCL Run/Walk, including the PHS Lap-a-Thon.
“There are many ways to make an impact — whether running, walking, making a donation, or simply showing up to support — no matter which you choose, you are making a difference,” says Renee.
Want to participate? Take part in Laura and Fran’s fundraising efforts.
Learn more about Renee’s RVCL Run/Walk Event on November 18th.