We were called by my son's pediatrician when he was one week old to tell us that his newborn screening test had come back with two mutations for CF. Of course, at the time, we had no clue what this meant. After doing some research, and being scared out of our minds we knew a little more about the subject. The Dr. told us not to worry because many of the newborn tests come back with false positives, and at that time he scheduled my new baby for a sweat test. It all seemed surreal since we had never heard of this disease, no one in our family had it and the odds seemed so small. Long story short, his sweat test came back a 7. Of course I got on this website and was reading how many times there can be a false negative.
My husband and I met with a genetic couselor that explained more to us. They thought he was "perfectly fine" (he had no signs or symptoms still), but they didn't know why. They thought that one of us had possibly passed down two mutations to him. At that point, they drew both of our blood to do the genetic testing. We didn't hear back for a long time, so I finally called the doctor. They told me that I hadn't received a call back because it came back that both my husband and I were carriers and they just didn't know what to tell us. They said that they had never had a negative sweat test where both parents came back carriers (and we had both passed our mutation to him).
They told us to just keep an eye on him for any of the symptoms to appear. For months, I was scared to death that a symptom may appear. I constantly would wipe him down if a stranger touched him and I didn't want other people holding him. I was a very paranoid Momma!! haha
When Caleb was 10 months old we got a call from our genetics doctor out of the blue. She explained that she and another doctor had researched the two mutations that we had passed down to Caleb. My husband had passed down the DeltaF508 and I had passed him a very rare mutation, F508C. The research concluded that the F508C mutation is a benign mutation. Meaning that it cannot react with another mutation to cause CF. The only thing that this combination of mutations had ever produced was a possible infertility in males. After doing a little more research on my own, I found that there are I think 5 or 6 mutations that are benign. That is not very many, but they are out there.
I kept reading in these forums that if the child has two mutations then they have CF, which scared me to death. My child does have two mutations, but is diagnosed as a carrier. I now have a very healthy 14 month old. The odds of this happening are very small, but I'm thankful daily for these small odds. This experience has made me more aware of this disease and very sympathetic for what the parents are going through. I wish everyone the best, and pass my prayers along.
My husband and I met with a genetic couselor that explained more to us. They thought he was "perfectly fine" (he had no signs or symptoms still), but they didn't know why. They thought that one of us had possibly passed down two mutations to him. At that point, they drew both of our blood to do the genetic testing. We didn't hear back for a long time, so I finally called the doctor. They told me that I hadn't received a call back because it came back that both my husband and I were carriers and they just didn't know what to tell us. They said that they had never had a negative sweat test where both parents came back carriers (and we had both passed our mutation to him).
They told us to just keep an eye on him for any of the symptoms to appear. For months, I was scared to death that a symptom may appear. I constantly would wipe him down if a stranger touched him and I didn't want other people holding him. I was a very paranoid Momma!! haha
When Caleb was 10 months old we got a call from our genetics doctor out of the blue. She explained that she and another doctor had researched the two mutations that we had passed down to Caleb. My husband had passed down the DeltaF508 and I had passed him a very rare mutation, F508C. The research concluded that the F508C mutation is a benign mutation. Meaning that it cannot react with another mutation to cause CF. The only thing that this combination of mutations had ever produced was a possible infertility in males. After doing a little more research on my own, I found that there are I think 5 or 6 mutations that are benign. That is not very many, but they are out there.
I kept reading in these forums that if the child has two mutations then they have CF, which scared me to death. My child does have two mutations, but is diagnosed as a carrier. I now have a very healthy 14 month old. The odds of this happening are very small, but I'm thankful daily for these small odds. This experience has made me more aware of this disease and very sympathetic for what the parents are going through. I wish everyone the best, and pass my prayers along.