Thanks for visiting samiam.info! We trust you will find some helpful information about cystic fibrosis (CF) while you are here and learn more about this disease. Of course, we will try to keep updates about Samuel current so that you can know what's going on in his young life.
To date, this is what we know: Samuel has cystic fibrosis because both Kevin and I are carriers of the gene. The CF gene is recessive and, just like passing on blue eyes, it takes both recessive genes to manifest itself. Thankfully, and almost miraculously, the state of Arizona began requiring newborn screening for CF and other genetic illnesses on November 1, 2007. Because of a minor issue discovered during my pregnancy, we had to stay in the hospital for 48 hours after he was born, instead of the usual 24. This put us leaving the hospital on November 1, therefore requiring the screening.
When Samuel was 2 weeks old, we took him to Phoenix Children's Hospital (PCH) for a sweat test. The next day we met with Dr. Adrian O'Hagan and the CF team at PCH and received the news confirming he did, indeed, have CF. We were there for a while learning just a little about the disease and what it meant for us right now. They gave us some medication for Samuel to help him digest his food and gain weight. We also got some orders to test his pancreatic enzyme production. This revealed that Samuel does not excrete the necessary level of pancreatic enzyme necessary for proper food digestion. To treat that, he takes pancreatic enzymes before each meal, which, right now, is every couple hours. We also do breathing treatments twice daily with a nebulizer and some chest physical therapy. Samuel is responding wonderfully to the treatments he receives.
Until his miracle comes, we will continue to follow the treatment planned for him by Dr. O'Hagan and the team at PCH.
More updates soon!