I came back to see the part I missed. Very interesting and informative. I like that Taylor's mom explained the percentages. I always thought if both parents were carriers that all their kids would have CF. At least that's how it was with my cousin, when both of his girls were born with CF. In 1974, I was tested, because the doc though I had it. But I was almost 22, so I was pretty sure I didn't. You'll probably think this is funny. The technology was great back then. They put a patch on my back and wrapped me up in a lot of sheets and blankets, to make me sweat. LOL Then they put me in an air conditioned room and expected me to sweat. Anyways, thanks for all the info, and for all the great scenery when you're out and about.
So I missed it. Of course, figures. One thing I want to note when you speak of genetic testing and newborn screenings: currently genetic testing only tests for 23 of the most COMMON genes in North America. There is an expanded panel to test close to 100 but it’s VERY EXPENSIVE. Of course you know that there are over 2,000 gene mutations that cause CF. I have two VERY rare genes so this information was very interesting to me. I met and spoke to a 52 year old woman that had been told three times that she was negative for the gene. They tested her twice with the standard panel, both times she tested negative. She continued to have more pronounced digestive issues, however so she saved up the nearly $24,000 to pay for the expanded panel out of pocket. And that panel came back as positive for ONE very rare gene. Since you need two, they once again labeled her as negative. She then demanded to retake sweat tests. She had had two, both were inconclusive. On the third sweat tests, her chloride levels were in the high 70’s so she was positive for CF. They now believe her to have two VERY RARE genes that they cannot test for. One of her genes is on the expanded panel, the other isn’t even on the expanded panel and would be almost monetarily impossible to test for. It would simply cost too much! Now I had a positive sweat test off the bat as a baby. But when I was 17 my sweat test came back negative, which put me out of qualifying for a clinical trail. I have since retested positive, affirming my first diagnosis. My genes only show up on the expanded panel. So when you get to a place where you are going through IVF to have your biological children, it almost just DOESN’T matter. So I am very glad to hear you say, “we won’t get our embryos tested”. Obviously Taylor as at least one of the more common genes, so they could test for that. But why add that expense?!?! No. Take them as God made them. And know that newborn screenings CAN give you a false negative and even a false positive. It really is in God’s hands. ❤️
Loved this! They were very informative and inspirational. P.S. Cole looks just like her mama.
Great parent interview!! Of CF
I came back to see the part I missed. Very interesting and informative. I like that Taylor's mom explained the percentages. I always thought if both parents were carriers that all their kids would have CF. At least that's how it was with my cousin, when both of his girls were born with CF. In 1974, I was tested, because the doc though I had it. But I was almost 22, so I was pretty sure I didn't. You'll probably think this is funny. The technology was great back then. They put a patch on my back and wrapped me up in a lot of sheets and blankets, to make me sweat. LOL Then they put me in an air conditioned room and expected me to sweat. Anyways, thanks for all the info, and for all the great scenery when you're out and about.
So I missed it. Of course, figures.
One thing I want to note when you speak of genetic testing and newborn screenings: currently genetic testing only tests for 23 of the most COMMON genes in North America. There is an expanded panel to test close to 100 but it’s VERY EXPENSIVE. Of course you know that there are over 2,000 gene mutations that cause CF. I have two VERY rare genes so this information was very interesting to me.
I met and spoke to a 52 year old woman that had been told three times that she was negative for the gene. They tested her twice with the standard panel, both times she tested negative. She continued to have more pronounced digestive issues, however so she saved up the nearly $24,000 to pay for the expanded panel out of pocket. And that panel came back as positive for ONE very rare gene. Since you need two, they once again labeled her as negative. She then demanded to retake sweat tests. She had had two, both were inconclusive. On the third sweat tests, her chloride levels were in the high 70’s so she was positive for CF. They now believe her to have two VERY RARE genes that they cannot test for. One of her genes is on the expanded panel, the other isn’t even on the expanded panel and would be almost monetarily impossible to test for. It would simply cost too much!
Now I had a positive sweat test off the bat as a baby. But when I was 17 my sweat test came back negative, which put me out of qualifying for a clinical trail. I have since retested positive, affirming my first diagnosis. My genes only show up on the expanded panel.
So when you get to a place where you are going through IVF to have your biological children, it almost just DOESN’T matter. So I am very glad to hear you say, “we won’t get our embryos tested”. Obviously Taylor as at least one of the more common genes, so they could test for that. But why add that expense?!?!
No. Take them as God made them. And know that newborn screenings CAN give you a false negative and even a false positive.
It really is in God’s hands. ❤️