Genetics 101

For a variety of reasons, Biology in 10th grade really stands out to me. It could be that I had it with one of my best friends, the interesting teacher, the very heavy table mate that always leaned back on his chair making me fearful of him falling on me, or the fact that we dissected a pig. Clearly, however, the content of Biology didn't stick with me--and last week I wished it had.

LJ tested positive for Cystic Fibrosis on his Newborn Screening done the day after birth. We found this out the first week we were home with him--getting use to life with a newborn and recovering from the trauma of his delivery. Then, because of the nature of the test, we had to wait the entire month to determine if the diagnosis was positive or a false positive. Yes, January was a very long month.

However, last week after numerous appointments, tests and questions we were told that LJ has CFTR-related metabolic syndrome (CRMS). This is where genetics comes in. Basically, LJ has a genetic diagnosis of CRMS because he inherited a Delta F508 AND a R117H-7T gene from JLO and myself. What we now understand this to be is a very, very, very mild version of CF where he probably will not develop any symptoms of CF in his life. If he does, they will be very mild.

We were prepared to deal with whatever the results told us, but obviously are very thankful that this prognosis is very positive. Thanks again to all for your thoughts, prayers and concerns as we experience the ups and downs of parenthood!