Monday, November 22, 2010

The past 7 months in the world of CF

Since we got the news of Keagan having CF, we had to adjust a lot but now it is all second nature to us! Thankfully we have not had any complications/hospitalizations with CF! We do his CPT as our way of putting him to sleep for naps and bedtime. The enzyme is just basically added to his food when he eats (it has to be given in applesauce) but as he gets a little older he will just take it as a pill before he eats or has a snack. As he gets older there will be other things added on a daily basis such as breathing treatments but as to what type it will all depend on his symptoms. He takes a reflux medicine first thing in the morning. As he gets older, he will also convert from the CPT to a vibrating vest that he will wear for a certain amount of time. And yes this will all be life long! He will not outgrow CF as some may think! He has just finally reached the 50th%ile for his growth as he when he was born he was only in the 10-15th%ile. This past weekend we have had the problem of him refusing to take a bottle and vomiting when he eats baby food so not sure what is going on but today (11/22/2010) i am taking him in to be checked out by his pediatrician to make sure he is not dehydrated! But check for updates in the future as this is where I will be posting his CF updates rather than on Facebook!!

How we discovered CF

For part of the pregnancy, we lived in Metaire, LA. In the state of LA, they automatically screen pregnant women for Cystic Fibrois. So when they did the initial blood draws for all of the blood tests they do, the CF carrier screen test was done on my blood. When they called me with the results, I remember the nurse saying "The blood work came back positive". I was thinking to myself "OMG what in the world could have came back positive" and then she said "for a CF carrier". I had no idea as to what cystic fibrosis was. So immediateley, I began researching CF online. A couple of days later, I went in to discuss CF with my OB/GYN and she suggested to have my husband tested to see if he was also a carrier. So, he was tested a couple of weeks later. The test came back positive as well. We had no idea that this disease even ran in either one of our families. After we found out that we were carriers, we were told that we both had cousins that had it who were 2 years old and 3 or 4 years (one on my mom's side of the family and one on his mom's side of the family). When I was 18 weeks pregnant, my OB referred me to a perinatologist as they can look for certain "markers" on ultrasound for gentic diseases or they could do an amniocentesis. The certain marker they look for on ultrasound for CF is echogenic bile. With echogenic bile, the bile duct appears white (like the bones) on the screen instead of grey. Keagan's ultraound showed the echogenic bile. This did not mean 100% that he was going to have CF but it meant that his chances were increased. The perinatologist offered me an amniocentesis but i denied it because it would not have mattered to me either way. I was not going to terminate. So when I was 32 weeks pregnant we decided to move back to our home town. I delivered Keagan at 39 weeks and he was delivered via c-section. When he was 2 1/2 weeks old it came back in the newborn screening that he had inherited both mutations (D-F508) meaning he did have CF. When he was 3 weeks old, we went to the Children's Hospital at Egleston in Atlanta, GA (which is 2 hours from where we live). This is when he had a sweat test to confirm the diagnosis and we had our first visit at his CF clinic. And so the treament begins!!