ORIGINAL PATIENT CASE
Summer 2020. Jilan is a 23 year old organic chemistry researcher at the University of Minnesota, and patient. She did her undergraduate degree at Stephens College, where she majored in Psychology with a minor in Biology and did Autism Spectrum research at the University of Missouri’s Cognitive Neuroscience Laboratory. She also recently spoke about her patient journey, and collaborating with Research to the People at Mayo Clinic. In this case, we are pursuing research on Juvenile Hypophosphatasia (HPP), a genetic, metabolic bone disease.
READ Hypophosphatasia drug feature, "The $6 Million Drug Claim" - New York Times
Researchers are invited to contribute open analysis for this case, including ideas on predicting disease severity, and exploring related comorbidity. This event will take place in the San Francisco Bay Area.
GiGi K., hypophosphatasia patient and research collaborator.
Gigi was diagnosed with the metabolic bone disease Juvenile Hypophosphatasia and several other conditions at Mayo Clinic in Rochester, Minnesota and continues to use her unique patient experiences navigating the healthcare system to spread awareness, educate, and advocate for rare disease research and diversity in the healthcare field.
She began her search for answers when she was 14, stumping Mayo Clinic with her odd varieties of symptoms. Eventually after many specialists, the search was written off as puberty and she went on the finnish high school, doing Post Secondary Enrollment during her senior year.
She attended Stephens College during the fall of 2014, the second oldest all women’s college in the country developing a passion for social justice and women’s studies. She majored in Psychology with a minor in Biology, and finished a year early in the spring of 2017. During her undergraduate middle and final year she interned at the University of Missouri’s Cognitive Neuroscience lab under Dr. David Beversdorf, whose lab focused on Autism Research.
In the summer of 2015 she began having severe GI symptoms, pain and mobility issues, and rheumatologist problems. She began commuting back and forth from Columbia, Missouri to Minnesota during during breaks to go to Mayo Clinic to diagnose and treat her mystery ailments. It took almost a year and a half of medical testing, seeing many different specialists before she was diagnosed with Jeuvenile Hypophosphatasia, Behcets Disease, Mixed Connective Tissue Disorder, Dysautonomia, and Gastroparesis.
She is part of Mayo Clinic’s 10 year longitudinal study of Juvenile Hypophosphatasia patients on a new bone enzyme replacement therapy known as Strensiq. Following a two year gap year to take care of her health she now works at the University of Minnesota as an organic chemistry researcher, and is an avid patient & patient led research enthusiast, and public speaker.