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Genetics and CP

Sunday, October 23, 2011


While I was at the Mayo Clinic in Arizona, where I am now seen, I had a chance to meet with a geneticist, Katherine Hunt. She was the cutest little lady with the sweetest voice and heartfelt manner. I loved her! She helped me understand more about genes. She drew out my entire family and went through the history of each family member. Today, there are three known and identified genes that can cause CP. Katherine believes there are over 30 unidentified mutations that can cause CP. Today we have three. They are CFTR mutation, SPINK-1 mutation, and Heredity (PRSS1). I am waiting on the results of the three now. During a visit with my GI doctor at Mayo, he mentioned the genetic mutations that can cause CP. He said there were two of them and he was trying to recall the names. I blurted out these three and he said “Oh yea, you are right, there are three” and then he looked my parents and said “You have a very intelligent daughter”. Thanks Dr. Decker, I’ll take it:-) The CFTR mutation is the cystic fibrosis gene. If I have that gene it just means I am a carrier for cystic fibrosis. Many people are and never find out. It will only affect you if you marry someone else who is also a carrier. In that case one of your children could have cystic fibrosis. Knowing if you have a genetic mutation won’t help you in the treatment of CP. For a while I thought it was only going to affect my insurance (wrong, GINA law prohibits this). Now I know that it will help me in making my decisions about the future. Having a genetic mutation can make my risk of pancreatic cancer increase even more and can change the way I will have my future babies. No worries, I have googled SPINK-1 AND pregnancy along with CFTR AND pregnancy enough to know it is still perfectly possible! 

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