On Thursday evening, the Rare Disease Awareness Club (RDAC) hosted its fifth Rare Disease Day event over Zoom.

Rare Disease Day

RDAC President Emma Snavely introduced keynote speaker Jill Madden and described the purpose of Rare Disease Day and the challenges that come with having a rare disease. These included lack of diagnosis, lack of information and lack of treatment, in addition to psychological and financial burdens.

Snavely explained that zebras are used as a symbol for the rare disease community, based on the quote, “When you hear hoofbeats, think horses, not zebras.”

“I know a lot of us are thinking about pursuing careers in research or as medical professionals, so the call to action would be to keep the ‘zebras’ in the back of your mind…” she said. “I’m not saying that you have to know every rare disease… or be able to diagnose everything, but to just know your bounds, know your scope and to refer when needed.”

From Iowa State to Boston Children’s Hospital

In her presentation, Madden described her path from Iowa State to her current job at the Manton Center for Orphan Disease Research. Madden earned her bachelor’s degree and doctorate in genetics at Iowa State. She then moved to Kansas City and worked as a postdoctoral researcher on ovarian cancer at the University of Kansas Medical Center.

Madden thought about what she wanted to do with her degree, considering going to medical school or working in the immunotherapy industry. She eventually decided that she wanted to work with people affected by or at risk of developing rare diseases. Madden applied at the University of British Columbia to study genetic counseling.

“I couldn’t quench the thirst of wanting to actually interact with patients,” she said.

Madden graduated in 2018, the same year she started working for the Manton Center. Within the Center, she currently works for the Gene Discovery Core (GDC), which works with families and hospital patients “who are searching for a diagnosis or a greater understanding of their rare disease.”

Madden said that the process participants go through involves a referral from a care provider or the patient, filling out paperwork, talking on the phone, collecting DNA samples, sending samples for genomic sequencing and finally providing the results to the patients. She discussed the characteristics of the people enrolled in research studies conducted by the GDC, saying that the ages ranged from fetus to 88 years old.

“It’s roughly 50/50 in terms of female sex chromosomes and the male sex chromosomes for our participants,” she said. “First year of life is a pretty significant enrollment, considering that’s just one year, compared to the others—but, definitely primarily children.”

Mila’s case

Madden discussed the case of a girl named Mila, who had a rare condition called Batten disease that causes seizures and vision loss, among other symptoms. Timothy Yu of Boston Children’s Hospital led the effort to create and approve a drug specific to Mila, which was a first at the time. The New York Times covered this story in 2019.

“It did slow her seizures and reduced the number of seizures, but at the time that she received the treatment, she had already lost a lot of her vision, and they weren’t able to restore the loss that she had… Unfortunately, Mila did pass away last year, but it really changed the field and her legacy will live on. We really appreciate her contributions to science,” Madden said.