Channeling ‘Dr House’

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Channeling ‘Dr. House’
Student shares Mito research in educational video

The searing leg pain started in her junior year of high school. She was playing competitive club soccer, but the pain never subsided and she was forced to quit a sport she loves. Now, after countless visits to pediatric neurologists, rheumatologists, geneticists, neuromuscular doctors, and orthopedists, the doctors have yet to determine the basis of Isabella (Bella) Rubio’s pain.

“In the beginning, I was confident that I would find my ‘Dr. House,’ a doctor who would rigorously examine my symptoms, confer with his or her team, pop some pain pills for himself/herself, and discover my cure — after a few mistakes or mishaps,” Bella said. “Unfortunately, that wasn’t my experience. I remember one doctor at Stanford said, ‘Most patients we see can’t walk — testing you probably won’t show anything.’”

As a senior, Bella went into research mode. “I spent my whole senior year in high school doing my own research,” Bella said. During that research, she came across mitochondrial dysfunction (while researching energy-relating conditions) and dove into that.

“As I scoured hundreds of websites, I began to connect with many people around the world who also were in pain. Many of the comments I read portrayed people who spent years searching for diagnoses to their mystery ailments, while often coping with the side effects of their prescribed medications. I became more aware of how much further medicine needs to advance, not just for myself but for many people around the world.

“I really like research,” the now-University of California-Berkeley freshman said. “I had a medical issue I had to research. I didn’t enjoy having pain, but I loved the research.”

Bella turned her love of research into raising awareness about mitochondrial disease and mitochondrial dysfunction in a three-minute video called “An Introduction to Mitochondrial Defects” she created for a contest.

Bella doesn’t have an official diagnosis of mitochondrial disease but a genetic test recently revealed she has a mutation in one of her mitochondrial genes. One-third of her cells that were tested showed the mutation.

“Regardless of whether I have a mitochondria-related issue, I wanted to make the video to share what I knew about the role of mitochondria in mitochondrial disease as well as common diseases and disorders,” she said. “I know most people don’t know about it and it really intrigues me.”

In the video she created for the Khan Academy Breakthrough Junior Challenge, she explains what mitochondria are and do, why they are important, and what happens when they begin to falter.

But Bella wasn’t able to enter her video in the contest because she missed the entry deadline by mere minutes!

She spent countless hours researching and creating the video during mid-terms at Berkeley. She had several tests to study for and take at the same time she was creating the video. “That’s why it was submitted late,” she said, noting the video was a labor of love for her.

She was happy to be able to create a video. “I wasn’t interested in winning; I just wanted to share the video,” said the daughter of John Rubio and Karen Lee of San Francisco.

But when her dad saw her put all those hours into the project and then not make the deadline, he reached out to MitoAction to see if the organization could make use of the video. “I was actually planning on reaching out to MitoAction myself after finishing the video, but my dad didn’t know that and I didn’t know that he was reaching out,” Bella said.

MitoAction is thrilled to partner with Bella to share her video and raise awareness!

People still need to understand the role of mitochondria in the body, she said. “If we can understand mitochondria, it can lead to possibilities in medicine overall.” Her experience in a youth cancer group, Burlingame Cancer Research, and a nonprofit group, Strides for Life Colon Cancer Foundation, further motivates her to understand the role of mitochondria. She realized understanding mitochondria could be a huge avenue to treating other disorders and diseases, like cancer.

“I hope people will understand the role of the mitochondria. And be aware that people out there have mitochondrial disease. People are suffering. We need to get other people interested in this.”

Bella plans to major in Molecular and Cell Biology. She always knew she’d go into a medical or biology-related career. “I grew up watching ‘House,’” she said. During the years she spent going to different doctors she realized she doesn’t want to be a doctor.

Research is in her wheelhouse. “Although the past two years have been difficult, it’s because I lack an answer that motivates me. It’s because of adversities that we become passionate about something,” she said. “And I’ve found my passion. I want to continue researching mitochondrial dysfunction and its link to different diseases and disorders.”

To watch Bella’s video please click here.