A Gilmer High graduate, diagnosed with a rare condition when she was just 14, has made it her mission to raise awareness on diseases people don’t hear about as often.
Now, the county is recognizing Feb. 28 as “Rare Disease Day.” Board of Commissioners Chair Charlie Paris signed the proclamation on Thursday, alongside Ysa Engel, 19, and her family.
“I will continue to fight for the rest of my life for people who are like me … that they get the visibility that they deserve, that they can get the medications and treatments that they deserve,” she said while addressing her supporters at the proclamation signing.
Ysa has Von Hippel-Lindau (VHL) Disease, an inherited genetic disorder that causes tumors and cysts to grow in certain areas of the body, according to the National Cancer Institute.
She was receiving a routine eye exam in 2019, when a scan showed a small growth. Her doctor recommended her to see a specialist, who then informed her family that it could be VHL.
“[The specialist] was like, ‘but don’t worry, it’s probably not that it’s super rare,’ but we went ahead and got genetic testing anyway,” Ysa recalled.
After a brain scan, full spine scan and abdomen scan, her doctors discovered that she had a tumor on her brain stem and pancreatic cysts, as well as the tumor in her eye. That was enough for Ysa to get the rare diagnosis.
“That was a lot at that age to figure out, because at the time I was a ballerina and on the dance team,” she said. “I was a freshman in high school. I was just learning who I was and what I enjoyed doing. It felt like I was going from being a little girl, to almost an adult overnight in some ways.”
Although the diagnosis was difficult at the time, she added that it helped her appreciate all she has in life and shaped her into a more empathetic adult, capable of understanding and connecting with people in ways that others may not be able to.
Ysa now has to have a full-body MRI performed every year, brain scans up to six times a year and takes medication daily to help slow down tumor growth. She said her brain tumor shrunk by 30 percent in the first month of being on the medication, and since surgically removing four tumors from her eye, she hasn’t had any new growths.
“My life is honestly very normal now, very healthy,” she said. “I just have to stay on top of it, and a lot of rare diseases are completely manageable with that kind of care.”
When she was younger, she got backlash from people because she doesn’t look sick, noting that sometimes it’s hard for others to understand the idea of a “silent battle.” She hopes that being open with her story, and recognizing “Rare Disease Day,” will help inspire community members to feel comfortable sharing their own stories.
“I feel like speaking on a rare disease and having this day, especially in a small town that’s such a close-knit community, is going to open that door, open some eyes and it’s going to start that conversation,” Ysa voiced.
“Rare Disease Day,” through the National Organization for Rare Disorders, is recognized globally on the last day of February. Now with this proclamation, it’s officially observed in the county.
Her mother, Amanda Engel, explained that Ysa gave a presentation to the Optimist Club earlier this month about her condition, which Paris attended because he was signing an “Optimist Day” proclamation.
That sparked their curiosity of recognizing rare diseases in the county with an official day. When Amanda asked Paris if that was a way they could honor Ysa and all those battling a condition, she said he was gracious enough to agree.
“This was kind of shining a light [on rare diseases] for me, and made it real for me, so I appreciate that,” Paris said to Ysa after signing the proclamation. “I just didn’t have a proper appreciation for what this is and for the people who are affected by it.”
Ysa and her family wore stripes to the proclamation signing, a nod to zebras which are the official mascot for rare disease patients, standing in solidarity with all those who are impacted.
She said wearing stripes stems from rare diagnoses defying the old medical saying, ‘if you hear hooves, assume it’s a horse,’ and the importance of exploring all avenues for treatment.
“A zebra is more rare than a horse, but it comes from that terminology that they used to use,” Ysa explained. “When you hear hooves, you assume it’s a horse, but we’re trying to say, ‘no, don’t assume it’s a horse, it could be a zebra and be something different.’”
Ysa’s father, William Engel, is the chair of the board for the VHL Alliance, a nonprofit focused on supporting patients, families and caregivers affected by the disease internationally.
“[This proclamation] is not just about VHL, but also about other rare diseases that impact one in 10 people,” William said. “Everybody’s going through their own individual fight … So we’re hoping to elevate awareness for those dealing with a rare disease, and do so in a way that touches our small community, and hopefully radiates outward from there.”
Engelheim Vineyards, which is owned by their family, is hosting a VHL Alliance Walk May 17, in support of Ysa’s condition and to help raise funding.
“We started last year doing an annual awareness walk for VHL, and we had multiple teams across the country contribute,” he noted. “We raised about $40,000 from corporate and individual donations, and we’re hoping to be able to double that amount this year.”
Tickets for the walk can be reserved on the vineyard’s website.