View Full Version : Another new monogenic cause...and, for us, finally, an answer
12-13-2011, 05:23 PM
This paper (http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.1035.html)has just been published online detailing the genetic cause for our son's condition.
It's been a long few years but thanks to the team of scientists at Exeter we finally have an answer (http://twoorgansshort.blogspot.com/2011/12/why.html).
12-13-2011, 06:45 PM
Hooray for answers! Even incomplete ones. I read your post and you and your family have a wonderful outlook on the situation you have been given.
12-13-2011, 08:43 PM
Congratulations! I read your post with tears because, I think, Finlay just touches my heart. Your dedication inspires me and now Finlay and his family are part of this incredible find. And the science is exciting and beautiful. Wow, you have your "why".
12-13-2011, 11:17 PM
I noticed the word heterozygous. Does that mean Finlay's kids would each have a 50% chance of pancreatic agenesis?
12-14-2011, 03:50 PM
Thanks for the kind words.
Jonah, yes you're right. He has one good copy and one mutated copy of the gene so a 50% chance of passing it on. However, now that we know what the mutation is he will have the option of prenatal screening when the time comes. But that will be a question for him and any future partner. And who knows what technologies will be available in 20+ years time.
12-15-2011, 02:55 AM
It's good to get answers. BTW I love your blog.