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<\/a>Joost<\/p><\/div>\n
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.<\/p>\n
\u201cI don\u2019t do well with sitting idle by any means,\u201d she said. \u201cAfter 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.\u201d<\/p>\n
In the months after her son\u2019s December 2019 birth, Joost launched a non-profit organization called Marshall\u2019s 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.<\/p>\n
She also made the choice to move forward with her doctoral program, enrolling at UToledo in fall 2020.<\/p>\n
\u201cIt was a rather overwhelming decision, but everything I was doing solidified for me that the UToledo Health Education Program was truly the best fit,\u201d Joost said. \u201cI 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.\u201d<\/p>\n
The guidelines vary for what defines a rare disease, but in the United States it\u2019s generally understood to be a disease or disorder affecting fewer than 200,000 people.<\/p>\n
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\u2019s disease and cystic fibrosis, are widely recognized by the general public but remain uncommon.<\/p>\n
Rare Disease Day, held annually on Feb. 28, serves to raise awareness for these conditions, the majority of which currently have no available treatments.<\/p>\n
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.<\/p>\n
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\u2019s son began treatment when he was 2 months old and will require bi-weekly infusions for the rest of the life.<\/p>\n