Everything went great at the 2 month appointment. The nurses were amazed by R's bright eyes, alertness, laugh, happiness, and his conversation skills. Everywhere we go I am more and more proud to be his mom. He did great with shots and he has been sore for a few days; therefore, Tylenol has been our best friend. Hopefully tomorrow all the soreness will be over!
At the specialist office today Roanan did wonderful. He looked good in the exam and they scheduled us to come back next week. They were a little concerned that R hadn't gained any weight, but we are not getting upset yet since he is still a healthy weight. We did get his mutation information today. He, like 77% of other CF people, has a ∆F508 gene along with a rarer mutation called IVS8-12TG. At this time we don't have a great deal of information on the second mutation but we believe that it is a milder mutation. A person with the CFTRΔF508 mutation will produce an abnormal CFTR protein that lacks this phenylalanine residue. This protein does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is the leading cause of CF.
We are scheduled to go back next week in hopes of more information on the second mutation and to receive the nasal culture results. We are so blessed to have doctors to help keep R healthy and to work everyday in search of a cure. We are so thankful that God entrusted us to be Roanan's parents. Seth and I have a perfect son who lights up our world and gives our life meaning.