Health Check / The importance of Rare Disease Day
When Sibylle DeRosa was 26, she took a trip to Thailand in between final exams for her degree in German literature. While walking on a beach with a friend, she noticed something was off.
“I felt a weird, creeping numbness coming on,” the New Canaan resident said. “The sand felt different than sand usually feels. ... Then I felt weakness coming on. It got worse and worse and worse.”
After experiencing flu-like symptoms on top of weakness in her legs, DeRosa went to a hospital in southern Thailand, where they thought she had multiple sclerosis. She began losing her mobility to the point where she was completely paralyzed. DeRosa was flown to a hospital in Bangkok, where a spinal tap revealed her proper diagnosis: Guillain-Barre syndrome, a rare autoimmune disease in which the body attacks its nerves, causing paralysis and muscle weakness.
Guillain-Barre syndrome is one of the many rare diseases about which awareness is being raised on Rare Disease Day on Feb. 28. Although most people’s odds of getting Guillain-Barre (and many other rare diseases) are slim, the goal of Rare Disease Day is to make the general public and policymakers aware of rare diseases and their impact on patients.
While awareness about Guillain-Barre is still minimal, doctors knew even less when DeRosa became sick in 1984.
“It was a shock,” DeRosa said. “I remember being totally shocked and not understanding anything. Then I remember being scared and wondering if I was going to get better.”
DeRosa spent four months in the Bangkok Hospital, during which time she also had a stroke. She recovered through intense physical therapy and spent another four months in a rehabilitation facility back home in Germany. She was left with a severe limp in her left leg.
In addition to the physical side effects, DeRosa’s life was thrown off course. She wasn’t able to finish her degree for several years and was left with a sense of embarrassment over her limp.
“It was extremely hard at first,” she said. “I was devastated. I felt embarrassed and like I did something wrong. All these emotions come out.”
But what she wants people to know about life with a rare disease is she is the same. After having two children, DeRosa said she gained more perspective when she thought about how lucky she was to bring two lives into the world after nearly losing her own.
“I’m still the same person I was before,” she said. “I’m not just a person with a disability caused by a rare disease.”
DeRosa went on to finish her degree and received a master’s in German from the University of California Los Angeles. She taught at Norwalk Community College and still tutors students in German. She and her husband have lived in New Canaan since 1990 and married in 1986 from a courtship borne out of her illness. The two had met prior to DeRosa’s getting sick, and her husband flew to Thailand after hearing she was in the hospital and helped her in her recovery.
“He stuck to me, so I thought ‘this is the guy,’ ” DeRosa said. “It was really touching.”
Aside from finding her spouse, DeRosa has found good in her experience from running a support group as part of the Greenwich chapter of GBS/CIDP (chronic inflammatory demyelinating polyneuropathy) International. The group meets every few months and has speakers to touch upon topics related to the disease. It also allows survivors to connect with each other. DeRosa said she’s been involved with the group for 10 to 15 years.
“The reason I got involved is because when something like this happens, it’s such a life-changing experience,” she said. “You don’t want it to be for nothing. You want to make something of it.”
This sentiment rang true with me, as did much of DeRosa’s story. In May 2009, my brother, then 12, was diagnosed with Guillain-Barre. His age, medical advancements and a general increased knowledge of GBS made his experience much less severe, and he’s recovered fully. But the confusion and isolation that come with a diagnosis of a rare disease is something my family and I know all too well. Who knows what to think when a healthy sixth-grader suddenly can’t walk? Even now, nine years later, the fear I felt watching my brother get sick is still very raw and I have a hard time talking about it. My brother doesn’t like to talk about it. But we as a family have found ways to make lemonade out of the experience, whether it is raising money for GBS/CIDP International or simply appreciating the perspective gained from the experience.
It’s really hard to talk about a medical scare, especially when it’s a rare disease people don’t understand. But like DeRosa said, you have to find a means to make it so it’s not for nothing.
“I think when you’ve had a rare disease like this, it’s important to be able to talk about it,” she said.
“If you talk about cancer, everyone knows cancer. But if you talk about Guillain-Barre, people don’t know about it.”
The next meeting of the GBS/CIDP Foundation International is March 18 from 3 to 5 p.m. at Greenwich Hospital.
To register, visit gbs-cidp.org