Carrier Testing
I'm sure many of you wonder "did she get prenatal testing to see if she was a CF carrier?" So I will answer that here - I did not. And with everything I know today, I'm so glad I didn't.
Why I didn't get the test done is simple, I had no family history of Cystic Fibrosis so my doctors didn't encourage it. Frankly, I don't even remember it coming up as an option (although I'm sure it did).
Since Sienna's diagnosis, I often reflect back to my pregnancy wondering if it would have been better to find out about her CF at that time. I've recently determined that I'm glad I didn't know. I was able to enjoy my (very healthy) pregnancy and not worry about the unknowns ahead of us. Sure it may have given us time to "prepare" and grieve before she arrived, but it wouldn't have changed anything. She would still have CF. As shocking, heart stopping, and devastating as the diagnosis was, having a seemingly healthy, beautiful baby helped us get through those initial days. I didn't see a sick baby when I looked at her, I saw a perfect little girl; and that made everything just a little less scary.
I'm glad I didn't get the prenatal test done. Knowing what I do now about her mutations, the test would have given us a false sense of security. I posted about Joe and I getting genetic testing done a few weeks back to determine who carried each mutation. Well, the Geneticist called yesterday and the results are in. Joe carries the deltaF508 gene and I carry the Ex22Dup variant. While this doesn't change much for Sienna, it let's me know that IF I had gotten the prenatal carrier testing done, it would have come back negative. The test only checks for the most common 32 CFTR gene mutations (just as the newborn screen does) and I don't carry a gene on that panel. Joe would never have been tested with my (false) negative result. I think it would have been much harder to accept the diagnosis after being told I was likely not even a carrier.
CF is scary. All the unknowns stress me out. But I can't stress enough how happy I am that I didn't know about it before Sienna arrived.
I read the most heart wrenching article the other day, which I'll share here. It was posted in one of my support groups and caused quite a stir. Warning, it doesn't have a happy ending and it will probably make you cry. My reason for sharing it here is to stress that Obgyn's are not CF experts. They think CF is still the disease it was decades ago. A disease that causes pain and suffering and a short life. A disease with no cure and no possibility of a normal life. What would I have thought, feared, done if this is what I was told?
They don't know up-to-date information on what the disease is like today. They don't know about the exciting medical advancements made in recent years (Kalydeco!). They don't know that there is NO WAY to predict how well (or poor) someone may do having Cystic Fibrosis. They don't know that a cure is just around the corner.
If you or someone you know recently received a positive CF test result for your little one, seek out real stories and real data. Honestly, the only good resources for truly understanding Cystic Fibrosis is the CF Foundation, accredited CF clinics and individuals that are raising a "CFer" or living with CF themself. Use those resources. Get those stories. Some are still scary, but some are extremely positive and encouraging. If the mother in that article would have used those resources, she may have made a different decision...
I love my little peanut!
Why I didn't get the test done is simple, I had no family history of Cystic Fibrosis so my doctors didn't encourage it. Frankly, I don't even remember it coming up as an option (although I'm sure it did).
Since Sienna's diagnosis, I often reflect back to my pregnancy wondering if it would have been better to find out about her CF at that time. I've recently determined that I'm glad I didn't know. I was able to enjoy my (very healthy) pregnancy and not worry about the unknowns ahead of us. Sure it may have given us time to "prepare" and grieve before she arrived, but it wouldn't have changed anything. She would still have CF. As shocking, heart stopping, and devastating as the diagnosis was, having a seemingly healthy, beautiful baby helped us get through those initial days. I didn't see a sick baby when I looked at her, I saw a perfect little girl; and that made everything just a little less scary.
I'm glad I didn't get the prenatal test done. Knowing what I do now about her mutations, the test would have given us a false sense of security. I posted about Joe and I getting genetic testing done a few weeks back to determine who carried each mutation. Well, the Geneticist called yesterday and the results are in. Joe carries the deltaF508 gene and I carry the Ex22Dup variant. While this doesn't change much for Sienna, it let's me know that IF I had gotten the prenatal carrier testing done, it would have come back negative. The test only checks for the most common 32 CFTR gene mutations (just as the newborn screen does) and I don't carry a gene on that panel. Joe would never have been tested with my (false) negative result. I think it would have been much harder to accept the diagnosis after being told I was likely not even a carrier.
CF is scary. All the unknowns stress me out. But I can't stress enough how happy I am that I didn't know about it before Sienna arrived.
I read the most heart wrenching article the other day, which I'll share here. It was posted in one of my support groups and caused quite a stir. Warning, it doesn't have a happy ending and it will probably make you cry. My reason for sharing it here is to stress that Obgyn's are not CF experts. They think CF is still the disease it was decades ago. A disease that causes pain and suffering and a short life. A disease with no cure and no possibility of a normal life. What would I have thought, feared, done if this is what I was told?
They don't know up-to-date information on what the disease is like today. They don't know about the exciting medical advancements made in recent years (Kalydeco!). They don't know that there is NO WAY to predict how well (or poor) someone may do having Cystic Fibrosis. They don't know that a cure is just around the corner.
If you or someone you know recently received a positive CF test result for your little one, seek out real stories and real data. Honestly, the only good resources for truly understanding Cystic Fibrosis is the CF Foundation, accredited CF clinics and individuals that are raising a "CFer" or living with CF themself. Use those resources. Get those stories. Some are still scary, but some are extremely positive and encouraging. If the mother in that article would have used those resources, she may have made a different decision...
I love my little peanut!
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| Happy and Healthy! |
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