I took you in to have your blood drawn today to be tested for the specific two mutations that caused your Cystic Fibrosis. We were told by the doctor yesterday that they almost always find both mutations but not always. Because your Dad and I both carried a healthy gene and a mutated gene and because you got both bad genes, you have two mutations. They may be the same or could be two different ones. We will find out in about a month which type you have. At this point it doesn't really matter. But, there are some promising drugs on the horizon for some small percentages of people with CF that look to treat the cause of CF instead of the symptoms. Up until this point the progress of science research has been able to identify triggers and problems related to this disease and take a proactive stance against lung damage and digestive issues. For you this means twice daily Albuterol treatments and digestive enzymes every time you eat. You have had no respiratory issues at all yet so the Albuterol is just on board for the "if and when." The enzymes are clearly needed, and your dose was increased slightly yesterday because of your increase in weight (yay!) and stooling patterns. It was clear to me in the last 10 days that something needed to be adjusted. All the while you smile, coo and talk. You are so full of peace and joy!
I am anxious to know which CF group to put you in, figuratively. We know that 70% of people with CF have the Delta F508 mutation as their primary mutation so we are expecting that as at least one of the them. Here's a basic rundown of the majority of people with CF:
At this point, there is no fear involved. The denial of this disease in our lives has passed. It has settled in for the long haul. Today is the only thing I can manage so I'll let God take care of the rest. I'm so happy I don't know the whole story, but he does. We're just so very thankful for you, sweet Kate.
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