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Post by Ross on Jan 24, 2014 23:36:16 GMT 10
Something I discussed recently was around hereditary inheritance of the Marfan disease, and whether there is any method of having the likelihood of its inheritance reduced through clinical means.
Has anyone had similar discussions before? I struggled to find any relevant information online.
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deb
Newbie
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Post by deb on Jan 26, 2014 22:26:21 GMT 10
My daughter and only child is now married and until now has refused genetic testing or assessment. With the prospect of having a child of her own she agreed to see Professor Richmond Jeremy of RPA Sydney. Based on his assessment of her medical history and examination, he advised she didn't have Marfans and therefore, her future children would not be at risk. We were both very relieved but on occasion I do wonder if this investigation was enough. I hope he was right but you can be sure I will be on the lookout for any of the Marfans markers in my future grandchildren!
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Post by Ross on Jan 28, 2014 13:32:08 GMT 10
That's the trouble with Marfan's, especially with the possibility of spontaneity in gene mutation as opposed to being purely hereditary - very difficult to diagnose in mild cases. I hope all is indeed clear with your daughter (although presumably if she's been told she doesn't have Marfan's, her heart, joints etc are functioning just fine).
I am yet to discuss children and inheritance of Marfan's with a specialist (which I will do when I see Prof Jeremy next month). The idea of a child being born with really severe symptoms is a little intimidating! Fortunately, I have a mild case of Marfan's, but I'm interested in understanding how things might change from generation to generation.
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Post by Ross on Mar 23, 2014 18:19:29 GMT 10
Quick update on this - great news! Having spoken with Professor Richmond Jeremy, he advised that that only around 25% of Marfan's cases are spontaneous through gene mutation. Also, and more importantly (for me at least), in terms of hereditary cases, IVF can be used to turn off the gene that causes Marfan's, thus removing the risk of the condition being passed on to children. I was excited to hear about this  |
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