“When I’m there, there’s a party,” Marlou says with a smile when asked to describe herself. “People are so serious when they talk about disease. Loosen up! Make a joke once in a while!”
At first glance, one might assume Marlou would be hard pressed to find something to joke about regarding illness. Marlou’s grandmother passed away from Fabry disease and her mother, sister and aunt are all Fabry affected. Along with enduring the painful, life threatening symptoms that go along with Fabry, they have also had to fight for their right to treatment in The Netherlands, where it has been believed that women are only carriers of the disease and are not affected by it. “They just give you pain medication,” explains Marlou’s mother, Erika, who is the Executive Secretary at Fabry Support & Informatie Groep Netherlands (FSIG). “Males [with Fabry] get disease-specific treatment (enzyme replacement therapy, ERT) right away, but as a woman you only get pain medication. Unless you’ve had multiple problems with your heart, kidneys, or brain—then you qualify for ERT.”
Both Erika and Marlou have been active in medical advocacy communities, Erika with Fabry International Female Initiative (FIFI), an organization that fights for women to get the same attention as men who are diagnosed with Fabry, and Marlou with the European Patients Forum (EPF), which focus’ on youth health care rights.