NC Woman’s Rare Disease Prompts an Uncommon Response
A North Carolina woman’s rare disease leads her on a medical odyssey that lands her in the forefront of patients using the web to change medicine.
By Rose Hoban
Sarah Kucharski walked into student health during her senior year of college for a routine checkup, and walked out with blood pressure medication because her reading was sky-high.
“And that was weird because I’d always had low blood pressure,” Kucharski said.
That unusual blood pressure reading started Kucharski on a medical odyssey that lead her to multiple surgeries, a stroke at age 28 and eventually, diagnosis with an extremely rare disease. And now, Kucharski has found herself traveling the world in the vanguard of social media activism for patients, even as she maintains her roots in the mountains of western North Carolina.
Always had symptoms
Kucharski doesn’t know when the first signs of her disease, fibromuscular dysplasia (FMD) appeared, but even as a little girl, she had strange gastrointestinal symptoms.
“I’d have excruciating stomach pain, problems with digestion,” she said. “Eventually I had to have my gall bladder removed when I was 17. I did have gall stones, but who knows if the FMD played a part in that.”
No one knows what causes fibromuscular dysplasia, which causes the cells lining a person’s arteries to grow abnormally, resulting in narrowing of the arteries in some places, and allowing the arteries to bulge out in others, creating a distinctive “string of beads” appearance on scans. No one knows how many people have FMD, which most often affects women. Only several hundred people in the US have signed onto a FMD disease registry.
Kucharski had overgrowth of cells in the artery feeding her left kidney, leaving it more than 90 percent blocked.
Kidneys respond to reduced blood flow by producing hormones that tell the rest of the body to do everything possible to pump up blood pressure, in an effort to push more blood to that kidney. That’s what was happening to Kucharski, and so none of the medications she took were effective at lowering her dangerously high blood pressure, because the real problem was a blocked artery.
Kucharski struggled with her blood pressure for several years. In 2005, just weeks before her 25th birthday, Kucharski found herself having surgery to expand the artery to her left kidney. The surgeons also opened up two other arteries feeding parts of her intestines. Those arteries were completely blocked.
“It was like a light switch. All my body needed was restored blood flow,” Kucharski said. “The blood pressure resolved and all the pain I’d been having all my life was gone.”
The problems resolved for a short time, but they weren’t over, and Kucharski still didn’t know what was causing them. She was back home in Haywood County, where she got a job and got married, all the while acquiring new, strange symptoms.
In 2008, she had a stroke, and a series of events lead her to further surgeries, including one to repair three bulging arteries in her brain. Another surgery was scheduled to re-open the artery to her left kidney. But by the time of the surgery, the kidney had atrophied and shrunk to a third of it’s usual size. Her surgeons had to remove it.
It took three more years, more problems and eventually, a trip to the Cleveland Clinic for Kucharski to finally be diagnosed with FMD – and not only that, but a rare form of the rare disease.
Usually patients with FMD experience an overgrowth of cells in various layers of their artery walls. For Kucharski, the overgrowth takes place in the innermost layer of the artery. Only a handful of people in the world have her form of the disease.
“Even thought I went in fully expecting to get the diagnosis, the first month afterwards was surprisingly unsettled, both for me and my husband” remembered Kucharski, who’s now 32. “We’d been good about working through what I’d gone through together. So we did go ahead and spent that month being scared, and then it was time to move on.”
Then Kucharski got a tweet.
Social media links rare disease patients
Kucharski never knew anyone else with FMD until she got online.
“That’s the thing, it’s not like diabetes or something” she said of the loneliness of having a serious disease that most doctors had never heard of, much less regular people.
The experience had gotten Kucharski thinking about how to connect with other patients, when a tweet came through her Twitter stream about a health care and social media conference in California called Medicine 2.0. Conference organizers were providing scholarships for patient advocates to go, and Kucharski applied.
“It was a complete game changer,” she said. “I thought Twitter was really stupid, couldn’t figure out why anyone would care. But finding this real use for it… connecting with other patients who were more like me in the sense that they wanted to be engaged and knowledgeable and wanted to be in control.”
She came back from California energized and started an online community called FMD Chat. The concept: connect a small community spread out across the globe. After a little more than a year, FMD Chat has members from Australia, Canada, Ireland, Scotland, France, Brazil and South Africa.
“I was able to hook up two patients in New Zealand,” Kucharski said with enthusiasm. “It’s around the world through FMD Chat… these two people in the same country were able to connect.”
The website has a public area with information about the disease and patient stories. Kucharski also started a private Facebook page where patients can connect to one another without the rest of the world looking. About 150 patients are currently active on the site, with about another 400 people who have “liked” the site.
Kucharski said that one of the biggest benefits for patients is feeling – finally – that the strange problems they’ve had all their lives are “real.”
“One of the frequent comments among FMD Chat participants is that their docs tell them their symptoms are in their head,” she said. But on the site, people have been able to compare notes and confirm lifelong suspicions. “It’s extremely frustrating to hear as a patient, that you know you’re feeling something but you’re told, you can’t be feeling this, or this can’t be caused by your disease.”
Kucharski said she hopes that having a community of patients who are active and talking to one another – and to medical scientists – can help to influence the direction of research.
“Pain and headache are two things that patients are fairly routinely saying that their docs say it can’t be related to FMD,” Kucharski said. “But studies are now showing that headache is associated. And pain is such a common complaint but it’s not been closed in on research-wise.”
From virtual community to live encounters
Kucharski’s web activism has gotten her noticed outside the FMD community. This past May, she was invited to speak at Doctors 2.0 & You, an international conference held in Paris on how the health care community can use new technologies.
There Kucharski heard about Alex Fair, a serial entrepreneur in New York who was getting ready to launch a Kickstarter-like crowdfunding website for medical projects. Fair calls it MedStartr.
“Companies that want to invest in innovative solutions, they need ways to find the right startups to invest in,” Fair said. “Even if you don’t have a whole team behind you, if you can put together an amazing project and explain it clearly… anyone can do anything.”
Fair said he’s trying to get the word out so that if patients want to develop a new tool to manage their disease, or to communicate with their doctors, or organize a group around rare disease, there are ways to fund it.
He’s got about 70 projects in the pipeline: to fund diagnostic tools, medical devices, a clinical trial of a smartphone app that helps diabetic teens track their blood sugar.
And Fair approached Kucharski to create one of the initial projects for MedStartr’s launch last week.
Kucharski said she wants to take FMD Chat to the next level. She’s hoping to raise $5000 to form as an official 501(c)3 not-for-profit and organize a retreat weekend for FMD patients, so they can finally meet face to face, among other goals that include providing seed money for FMD research.
“Her project is one of the most important ones on the site,” Fair said. “It’s not a commercial enterprise and no venture capitalist or company would ever invest in it. But they’re the people we can do the most for, we can help them exist in the first place.”
“I want to give other patients opportunities to go to conferences, and get involved, and empower themselves,” Kucharski said.
“You don’t realize how lonely you were until you have this family that you can have the experience with and share the sadness and frustration but also share the joys with as well,” Kucharski said. “The level of understanding among the group of patients is so much more than you can ever really achieve with ‘real’ family.
“You have a companion on the journey.”