copied from a post I made yesterday in the Adult section:
I had Isaac genetically tested since I have cf and hubby was only tested for 89 mutations back in '04. Today I got news that they found my G551D and S1235R (from hubby most likely). Yep...a second mutation. I'm completely devastated. Any info or support would be appreciated. I can't stop crying. Here I thought I was a responsible cfer.
They haven't said he has a cf diagnosis, instead are waiting on hearing results of the urologists reports on his vas deferens and also seeing him. We have an appt. set for Oct. 19 at 10:30. I remained composed until we started talking about how we'd have to come back for a second appt. for instruction on how to care for Isaac. I commented that that was probably good since care for me as an adult is probably different than care for a baby. In my mind though I thought, "instruction? I know how to care for cf." and she said this which for some reason just tore into me. "Yes, you are mom in this situation. How you care for cf for him is completely separate from your cf."
As you can tell from my attitude this news is basically in my mind a cf diagnosis because I'll want to be proactive with his care and give him the best chance for a long, healthy life.
soo, sooo, sad.
Edited to add: This morning we visited the urologist to learn more about the manifestation of cf in Isaac. He found two vas deferens intact in Isaac which is one more reason to feel optimistic about his situation. Many cfers don't have vas deferens at all. Some also have them but they are blocked with mucus or severed. Of course, we hope that they aren't any of these. Most of all though we hope he doesn't get lung involvement.
I'm doing much better today. Although when I woke up and thought of the news I received yesterday for a second I thought was that all a dream? ha!
My parents are taking the news in stride. Not easy news to swallow even if it is the second time around this block.
I had Isaac genetically tested since I have cf and hubby was only tested for 89 mutations back in '04. Today I got news that they found my G551D and S1235R (from hubby most likely). Yep...a second mutation. I'm completely devastated. Any info or support would be appreciated. I can't stop crying. Here I thought I was a responsible cfer.
They haven't said he has a cf diagnosis, instead are waiting on hearing results of the urologists reports on his vas deferens and also seeing him. We have an appt. set for Oct. 19 at 10:30. I remained composed until we started talking about how we'd have to come back for a second appt. for instruction on how to care for Isaac. I commented that that was probably good since care for me as an adult is probably different than care for a baby. In my mind though I thought, "instruction? I know how to care for cf." and she said this which for some reason just tore into me. "Yes, you are mom in this situation. How you care for cf for him is completely separate from your cf."
As you can tell from my attitude this news is basically in my mind a cf diagnosis because I'll want to be proactive with his care and give him the best chance for a long, healthy life.
soo, sooo, sad.
Edited to add: This morning we visited the urologist to learn more about the manifestation of cf in Isaac. He found two vas deferens intact in Isaac which is one more reason to feel optimistic about his situation. Many cfers don't have vas deferens at all. Some also have them but they are blocked with mucus or severed. Of course, we hope that they aren't any of these. Most of all though we hope he doesn't get lung involvement.
I'm doing much better today. Although when I woke up and thought of the news I received yesterday for a second I thought was that all a dream? ha!
My parents are taking the news in stride. Not easy news to swallow even if it is the second time around this block.