Amanda Joost was preparing to apply to The University of Toledo to pursue a doctoral degree in health education when she and her husband received life-changing news.
Their newborn son, Marshall, had been diagnosed with Pompe disease, a rare inherited genetic disorder that causes irreversible muscle atrophy.
A medical laboratory scientist and assistant clinical professor at Bowling Green State University, Joost quickly began exploring what role she could play as an advocate for rare disease awareness while weighing her future educational plans.
“I don’t do well with sitting idle by any means,” she said. “After Marshall was born, my husband and I dove right into what can we do to improve not only the life of our son, but others impacted by the same disease he has or other rare diseases.”
In the months after her son’s December 2019 birth, Joost launched a non-profit organization called Marshall’s Mountain to raise money for Pompe research, linked up with national rare disease organizations, and met with congressional aides to advocate for the importance of newborn screening tests.
She also made the choice to move forward with her doctoral program, enrolling at UToledo in fall 2020.
“It was a rather overwhelming decision, but everything I was doing solidified for me that the UToledo Health Education Program was truly the best fit,” Joost said. “I felt I had an opportunity to develop my knowledge of health policy to be able to better advocate for legislation that supports the rare disease community and also to develop my research skills in hopes of ultimately improving outcomes for individuals with a rare disease.”
The guidelines vary for what defines a rare disease, but in the United States it’s generally understood to be a disease or disorder affecting fewer than 200,000 people.
About 10,000 conditions are currently recognized as rare diseases, according to the U.S. National Institutes of Health. Some have only been documented in a handful of individuals worldwide. Others, like Lou Gehrig’s disease and cystic fibrosis, are widely recognized by the general public but remain uncommon.
Rare Disease Day, held annually on Feb. 28, serves to raise awareness for these conditions, the majority of which currently have no available treatments.
While individually the diseases are uncommon, collectively they have a huge burden on public health. Roughly one in 10 Americans has a rare disease, equating to some 30 million people in the United States.
In the case of Pompe disease, which is present in an estimated one in 40,000 births, there is no cure but there is a relatively new treatment that can slow progression of the disease. Joost’s son began treatment when he was 2 months old and will require bi-weekly infusions for the rest of the life.
Though Joost was driven to do everything she could to help individuals with rare diseases like her son, she was initially conflicted about how heavily her personal interest should shape her academic pursuits.
Ultimately, with the encouragement of several UToledo faculty members, she chose to embrace it.
Dr. Barbara Saltzman, an associate professor of population health and Joost’s research advisor, said her passion and existing knowledge should serve her well.
“I think you would be hard-pressed to find someone whose personal experiences didn’t color their academic research path of pursuit,” Saltzman said. “Amanda knows the questions to ask. She knows the questions families don’t have answers to that physicians aren’t able to provide them with yet. She can drive where the hypotheses go in that field.”
Joost is developing a research project that’s centered on analyzing existing clinical data and laboratory findings with an eye toward identifying clues that might one day help expedite the diagnosis of a range of rare diseases.
“While our family was fortunate to receive a diagnosis for our son because of an abnormal newborn screening result, not everyone with an inherent disorder has this opportunity,” she said. “This delay in diagnosis can result in unnecessary disease progression if a treatment is available and put families on a diagnostic odyssey searching an explanation to what’s causing their chronic condition.”