Research Keeps Me Living My Best Life
By Jannes Verheij
Soon after I was born, the clinical geneticist thought I had a connective tissue disorder, related to Marfan syndrome. I was given medication because of an enlarged aorta.
In 2006, we moved to another city and I was referred to the geneticists there. They just had visited a symposium where LDS had been presented and recognized some of the characteristics in me, especially my bifid uvula. A test was done and the diagnosis of LDS type 1 was confirmed. Because it was very rare at that time, my parents agreed that an article would be published on me and two others anonymously.
Because I was only 5, the diagnosis didn’t influence my life in any major ways. I was too young to really understand it all. After being diagnosed, Losartan was added to my medication. As far as I can recall this didn’t really impact me either.
Several years later the LDSF school packet was developed. This turned out to be super helpful to explain the consequences of LDS to my teachers and have them understand what it was. This made them more understanding when I had to go to the hospital for a check-up again.
Currently, I’m in my final year of high school and planning to go to college next year.
Growing up, I wanted to know more and more about Loeys-Dietz. Luckily, my parents and my doctors were always happy to provide with the information I’ve wanted.
I’ve never been bullied because of it, my friends are very supportive and overall I would say my life has been very positive. Due to an electric bike I have a lot of freedom.
My progress has been set back heavily multiple times due to surgeries such as to my aorta and scoliosis. I’ve had to pull myself back up after all the intense medical procedures but I succeeded every time due to amazing support from friends and family.
I am grateful for all the research being done to this day to help people like me live our best life.
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