Marfan Syndrome Support Group
Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue...
Last week, I went for my annual aorta check. It's not normal anymore.
I've always known I was at risk but there was reason to hope for a while. Sure, I have the screwed up gene but it wasn't really affecting me. I'm flexible but I never reached the 6 foot plus height of my mother or most of the Marfan's cousins. It's a large extended family and you can pick them out at the family reunion, by the height and the scars. I have some other minor criteria, like a slight spinal curve (cardio had me make an appointment with ortho because he thinks that's worse now too), crowded teeth, and issues with my eyes and vision but until this most recent appointment - none of it was major. Now it is. I don't need surgery ... yet ... but I do need watched more closely than I have been. I go back and forth between oddly calm or maybe numb about the news and scared out of my mind.
My mother's first aorta surgery happened when she was 36 as a dire emergency. In the 12 years since then, she's had several more surgeries on her heart (two artificial valves now plus a double bypass) and aorta. She lives in constant pain from her back and joints and is trying to get on disability. Even just a cold throws her medications out of balance and lands her in the hospital. She has another aortic dissection that's going the whole way down into one of her femoral arteries that they have no idea how to fix. She's a bad surgical risk at this point. It's almost like they've given up and she's given up with them. They're focused on comfort and what time is left.
Is that what I have to look forward to? I won't even be 30 until this autumn. Will I be that used up and broken by 48? Do I even want to go through it?
I've always known I was at risk but there was reason to hope for a while. Sure, I have the screwed up gene but it wasn't really affecting me. I'm flexible but I never reached the 6 foot plus height of my mother or most of the Marfan's cousins. It's a large extended family and you can pick them out at the family reunion, by the height and the scars. I have some other minor criteria, like a slight spinal curve (cardio had me make an appointment with ortho because he thinks that's worse now too), crowded teeth, and issues with my eyes and vision but until this most recent appointment - none of it was major. Now it is. I don't need surgery ... yet ... but I do need watched more closely than I have been. I go back and forth between oddly calm or maybe numb about the news and scared out of my mind.
My mother's first aorta surgery happened when she was 36 as a dire emergency. In the 12 years since then, she's had several more surgeries on her heart (two artificial valves now plus a double bypass) and aorta. She lives in constant pain from her back and joints and is trying to get on disability. Even just a cold throws her medications out of balance and lands her in the hospital. She has another aortic dissection that's going the whole way down into one of her femoral arteries that they have no idea how to fix. She's a bad surgical risk at this point. It's almost like they've given up and she's given up with them. They're focused on comfort and what time is left.
Is that what I have to look forward to? I won't even be 30 until this autumn. Will I be that used up and broken by 48? Do I even want to go through it?
8 weeks post-surgery, at times it still feels like I was hit by a train.
I have a daughter who had heart surgery (mechanical valve) when she was 19. She just had her aortic root and trunk replaced last summer.
Marfan Syndrome is a terrible disease, but you can survive it.
God bless.