Before there was an answer
María del Pilar describes a long search marked by incorrect diagnoses. Her mother received treatment for an illness she did not have while the family kept looking for an explanation that fit what they were seeing.
A crisis changed the direction of the search
A crisis brought the family to Hospital San Ignacio. In the interview, Dr. Felipe Pretelt says María Amparo had come to the emergency department with ventilatory insufficiency, a serious problem with moving enough air in and out of the lungs.
Dr. Pretelt and the Hospital San Ignacio clinicians recognized characteristic signs of parkinsonism alongside the breathing problem. María says that further investigation and genetic testing confirmed the diagnosis. For the first time, the family had an answer that brought the movement and respiratory signs together.
“It was hard, very hard at first; however, it was a relief to find my mother’s diagnosis.”
Relief did not make the diagnosis easy
The diagnosis gave the family and clinicians a clearer basis for working together. María says her family received extraordinary help from Mayo Clinic and Dr. Zbigniew Wszolek. Dr. Pretelt describes growing research collaboration among Mayo Clinic, Universidad Javeriana, and Hospital San Ignacio in Colombia.
One family became part of a larger search
Dr. Wszolek says his Perry syndrome work began in 2001 with a Japanese family. He and his international colleagues formed a consortium to find other families with the same unusual pattern, renew contact with them, collect blood samples, and search for the cause.
He recalls that the group knew of only six families at the time. That historical figure is not a current estimate of families living with Perry syndrome.
Hope through participation
María del Pilar speaks about faith in science and the importance of families participating in research. She hopes shared knowledge can help every affected family and move research toward a cure. Dr. Wszolek describes that hope as a central motivation for clinicians. It remains an aspiration; there is currently no cure.