Marfan Syndrome

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Last year Bones went to the doctor and was told he may have Marfan Syndrome. At the time I was undertaking a Genetics course and so I had heard of Marfan Syndrome. Bones however had never heard of it. I could tell he was scared. When he got home he started to research it with his depression and anxiety it did not take long for him to start catastrophising his situation. But what is Marfan Syndrome? Bones' doctor basically called it "the disorder of being really tall" which really doesn't give that much information. So... Marfan Syndrome is an Autosomal dominant Syndrome. The ones that aren't sex chromosomes. If you have the gene for Marfan you will have Marfan. It affects fibrillin-1 it is a protein found in things like your artery walls. It affects other connective tissues as well. Bones' had to have ultrasounds one on his heart and his aorta the doctor told him this was how they diagnosed Marfans. As well as aortic dissection (when the artery tears) is apparently a common cause of death in those with Marfan. He also had nerve tests. It was the day of his results Bones was sort of moody and snappy because he hadn't slept well the night before. I was comforting him saying I was sure he didn't have Marfan Syndrome. As it turns out I was right he didn't have Marfan Syndrome he is just somewhat abnormally tall.