Genetics students gain rare opportunity to learn about living with rare disease
Sweet said the experience was two hours of questions from the students. She speaks briefly to start, introduces the students to pictures of Emma and an overview of the disease. Then they ask questions.
“The students were very engaged,” Sweet said. “They had very good questions — thought-provoking questions — that showed their critical thinking skills.”
Basic questions included: How did Sweet know Emma had XP? What research is out there? How did COVID-19 impact your situation? What are other medical components that go with XP? Some questions were more about the family dynamics: How does Sweet’s son deal with XP? How do you live on a day-to-day basis? What are Sweet’s fears?
Sweet said she was emotional after the talk.
“It’s my ‘day to day’ but when I talk about it, I realize how different our lives are from other people,” she said.
Sweet’s family life is different from most. Emma has special gear she must wear anytime she goes outside in the daytime. She must wear a hat — they call it “Emma’s fan hat,” because it has a fan inside to keep her cool — two layers of clothing with long sleeves, and long pants as well as gloves. Windows must be tinted as well. Windows in Sweet’s home and car are tinted, as well as the windows in the rooms Emma uses at school and at church.
The Sweet family life got even more complicated this past year when Sweet’s 9-year-old son was diagnosed with celiac disease. Now, the family must bring their own food (in addition to all of Emma’s gear) to many activities because he can’t have any gluten.
Sweet said Emma is doing well, despite living with XP.
“She’s a spunky child,” Sweet said with a smile. “Lots of spirit, very independent and she can be sassy.”
“My job is to make sure she can do anything she wants to do, but we have to be creative in finding ways to make that happen,” Sweet said.
But they do. Emma rides horses, goes to school, swims in the lake, plays basketball and plays on the playground with her friends.
“Especially with rare diseases, there’s no financial incentive for pharmaceutical companies to come up with treatments,” Ramesh said. “It’s the family members who are advocating, connecting and searching for support, more so than the communities we typically think about as doing research. This is a big challenge for someone dealing with a disease that’s rare.”
Sweet is a dedicated advocate and stays on top of XP research herself. She keeps a Google Scholar Alert, so she’s notified when a new scholarly paper about XP is published. Recently, the research in her alert was about Emma.
Because XP can cause cancer from sun exposure, Sweet was warned that Emma could develop skin cancer because of sun exposure before she was diagnosed. Early this year, Emma had a tumor removed from her scalp. The tumor was benign but a rare neurochristian hammertoma. Emma was the first XP patient to have one. Doctors asked for Sweet’s permission to write a scholarly paper to inform other doctors.
The class was “a truly enlightening experience,” Marrett Gilfus ’22, biochemistry major, said. “My grandmother actually had some experience with the XP camp in New York where the children only go out at night. So while I knew of the condition, it’s so extraordinarily rare that I still had never heard a story from anyone directly living with this condition. This was truly an exceptional opportunity to understand, that while rare, these illnesses do touch the lives of people in our community.”
If you are interested in more information on XP, please visit xpfamilysupport.org.