Genetics students get rare opportunity to learn about living with a rare disease

Sweet said the experience was two hours of questions from the students. She starts by speaking briefly, introducing 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 there? How did COVID-19 affect her situation? What are other medical components associated with XP? Some questions were more about family dynamics: How is Sweet’s son handling XP? How do you live from day to day? What are Sweet’s fears?

Sweet said she was emotional after the conversation.

“It’s my ‘day to day,’ but when I talk about it, I realize how different our lives are from other people’s,” she said.

Sweet’s family life is unlike most. Emma has special clothes that she has to wear when she goes outside during the day. She must wear a hat they call it ‘Emma’s fan hat’ because it has a fan in it to keep her cool two layers of long-sleeved clothing, long pants and gloves. Windows should also be tinted. Windows in Sweet’s house and car are tinted, as are the windows in the rooms Emma uses at school and at church.

Sweet’s family life became even more complicated last year when Sweet’s 9-year-old son was diagnosed with celiac disease. Now the family has to bring their own food (in addition to all of Emma’s stuff) to many activities because he is not allowed to have gluten.

Sweet said Emma is fine, despite living on XP.

“She’s a feisty kid,” Sweet said with a smile. “Lots of spirit, very independent and she can be sassy.”

“My job is to make sure she can do whatever she wants, but we have to be creative to find ways to make that happen,” Sweet said.

But they do. Emma rides a horse, goes to school, swims in the lake, plays basketball and plays with her friends on the playground.

“Especially in rare diseases, there is no financial incentive for pharmaceutical companies to come up with treatments,” Ramesh said. “It’s the family members who advocate for, connect and seek support, more than the communities we think are researching. This is a major challenge for someone dealing with a rare disease.”

Sweet is a dedicated advocate and keeps abreast of XP research herself. She maintains a Google Scholar Alert so that she will be notified when a new scientific paper on XP is published. Recently, the investigation in her alert was about Emma.

Because XP can cause cancer from sun exposure, Sweet was warned that Emma could develop skin cancer from sun exposure before she was diagnosed. At the beginning of this year, Emma had a tumor removed from her scalp. The tumor was benign, but a rare neurochristian hammerhead. Emma was the first XP patient to have one. Doctors asked Sweet for permission to write a scientific paper to inform other doctors.

The class was “a really enlightening experience,” said Marrett Gilfus ’22, a biochemistry major. “My grandmother actually had some experience with the XP camp in New York where the kids only go out in the evenings. So even though I knew about the condition, it’s so extremely rare that I’d never heard a story of anyone living directly with this condition. This was truly an exceptional opportunity to understand that, while rare, these diseases do affect the lives of people in our community.”

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