Living with Jacobsen syndrome: Giorgos from Greece

By Giorgos, Jacobsen syndrome, Greece, February 26, 2021

Giorgos from Gastouni, Greece

Hello everyone, I'm Giorgos - that's "George" in Greek - and I'm 19 years old. I was diagnosed in 2009 with a rare genetic disorder: Jacobsen syndrome with 11q24.1-qter deletion, a disorder so rare that it is not mentioned in the Database of Genomics Variants. My diagnosis of Jacobsen Syndrome also involved the presence of pervasive developmental disorder, sensorineural hearing loss, heart failure, mild thrombophilia, mild intellectual disability, skeletal anomalies and juvenile idiopathic arthritis. Lately I've also been diagnosed with scoliosis, spinal curve deformities, pes cavus, dystonia, thinning of the Achilles tendon and a fallen metatarsal arch. I need to take my medication and have physical therapy sessions every day.

That may seem like a long list or problems, but I've got plenty of reasons to smile too: I love to spend time with my family and friends, and I like to listen to music or watch videos on my smartphone. My doctors and therapists are amazing and they have helped me overcome many of my difficulties. As of lately I am a member of a patient advocacy organization, where I can share my thoughts with other people who also suffer from rare diseases. I believe that sharing is the way to move forward in life, and I am happy to have so many people that care for me... and likewise, I am happy when people tell me that my courage is inspiring to them.

Wishing all rare disease patients a happy Rare Disease Day from the town of Gastouni in Greece!

 

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