An Update On The CF Testing

So we received some news today. No definitive answers, but we do have an update. We have been waiting for test results for about 3 weeks and I was told by Dr. Kanga's nurse to call in at the 3 week mark for an update. Since I am staying with my mom and dad I thought I should call today should the news not be good. I really didn't want to receive bad news alone at home. When I spoke to Barb, she informed me that so far they have found on CF gene - the Delta F508, the most common gene. But it takes two to tango, so they are still looking to see if she has another CF gene. What does this mean? It means that at the very least, Lilly is a carrier of CF. This also means at the very least either Jeremy or I have the Delta F508 gene, which means one of us is a carrier.

The remaining results of the test will take another 3 weeks. They are going to continue to test her for other genetic mutations to see if she has any others - if so, then she has CF. After talking to the CF nurse about some of my concerns about Lilly's weight gain and her BMs, we have decided to try another sweat test in the meantime. Since Jeremy is traveling and wants to be there, he is reworking his schedule so we can do the sweat test next Tuesday. Hopefully that will provide us some answers.

But my update doesn't end there. Literally 10 minutes after I spoke to the CF nurse and digested this information, my ob/gyn called me personally about my test results. Apparently I am a carrier. But I am not a carrier of the Delta F508 gene. I am a carrier of the 1898+1G>A gene.

So what does this all mean? I don't know. I have put in a call to the CF nurse and she is calling me first thing in the morning to answer some of my questions. But here is my speculation. It is my understanding that I was tested for 34 of the most common varieties. The 1898+1G>A genetic mutation is the only genetic mutation that I have; otherwise, I would have CF and it is obvious that I am just a carrier. So if Lilly has the Delta F508, she must have received that gene from Jeremy. Which means that both of us are carriers. If we are both carriers of CF, we have a 25% percent of having a normal child (without CF or a carrier of CF), a 25% chance of a child that is a carrier of the Delta F508 gene, a 25% chance of a child that is a carrier of the 1898+1G>A gene, and a 25% chance of a child with both genes aka a child with CF. So the questions I will be asking tomorrow are (1) have they already tested Lilly for the 1898+1G>A gene and if so, and it is negative, does that mean she is just a carrier? (2) If they haven't tested Lilly for that gene, is that the only gene that we need to test her for to make or eliminate a diagnosis? My hope is that they have already tested her for the 1898+1G>A gene and it came back negative and my hope is that this means she is just a carrier.

At this point, we are digesting this news as well as can be expected. We are still hopeful that Lilly is just a carrier. We are upset that it appears that we may both be carriers, which may have a large impact on our future decision to have more children and our childrens' future decisions on having children. But that is not something that we are really ready to discuss or deal with at this stage. Right now our focus is on Lilly and what exactly is going on with her. I hate to say it, but I am almost relieved to have any answers at all, even if it isn't exactly what I wanted to hear. The wait can be so unbearable at times.

On a further note, I have to say that I am a person who believes things happen for a reason. I received much of this news after following the story of a little 8 week old niece of a girl who has babysat Olivia and works with my aunt. I don't want to reiterate a very personal story, but suffice it to say that this little girl, who is the same age as Lilly, and her parents are going through their own personal struggles with a potential diagnosis of a very serious metabolic disorder which, like CF, is caused by recessive genes, and has already been diagnosed with some conditions associated with that disorder that will be challenging for her family. While it pains me to find comfort in someone else's pain and grief, it does remind me to put things in perspective and in some small way, I think I was meant to hear that story. I am reminded that regardless of the hand that life deals us, it is often more about our attitude in dealing with the struggles that makes all the difference. I may not have control over what happens with this path, but I do have control on how I deal with it. Thus I am going to choose to focus on the hope that she does not have CF and if she does have CF, on the treatments that can be provided to her and the possibility of a cure. It is obviously easier said than done, but even when I feel overwhelmed, if I make myself look at the bright side, then somehow the load is a little less heavy.

Thank you again for your thoughts and prayers. I will keep you updated and hopefully be able to provide more answers in the coming days.