Wednesday, January 26, 2011

From this DAY Forward...

So I have placed a new concept into our lives. This new concept comes as for the past 9 months I have been completely wrong about what gene mutations Keagan has. I have been thinking this whole time he had two copies of the most common mutation which is delta F508, but he actually has one copy of delta F508 and a copy of a rare mutation 621+1G>T. I have searched for info on the rare mutation and cannot find anything. I even went as far as contacting my genetics professor from college and he couldn't even find anything correlating this mutation with symptoms of CF. I do know that the 621+1G>T is the second most common mutation found in French-Canadians! I also know that the rare mutation can affect the pancreas pretty severely which i guess is true because Keagan does take almost double the amount of enzymes for his weight so he is pretty pancreatic insuffiecient (pancreass does NOT naturally produce digestive enzymes at ALL). I do know that the rare mutation is from my side of the family becuase my husband has a 5 year old cousin with CF and he has two copies of the delta F508. All I know is that his combination of mutations is like all other combos of mutations for CF meaning that there is no set in stone symptoms and each patient can have a varying degree of severity. So his could be very mild with little to no complications or it can become very severe. So this is where the new concept of our lives come into play: WE ARE GOING TO LIVE IN TODAY AND ENJOY IT WITH NO WORRIES OF THE TOMORROWS UNTIL WE GET THERE!

1 comment: