My baby & Cystic Firbrosis

We got the news on Friday that Lindsey does have Cystic Fibrosis. This breaks my heart, but it I am going to keep a good attitude and hope that she will have mild symptoms or better yet NO symptoms and will teach the doctors something new with this disease!

They have only been screening newborns for CF for a little over a year, before this a child usually wasn't diagnosed with CF until around 2 1/2 - 3 years old, unless they had a very severe form of CF would have been tested at birth. They also do prenatal screenings, which I had. The test came back and showed that I was a carrier so we had Cris screened as well, his test came back negative. They told us there was virtually nothing to worry about since it takes two genes (one from each parent) for a child to have CF. What they didn't tell us is the prenatal screening only screens for 34 CF mutations out of over 1300 known cf mutations! I was devistated when the first results came back from Lindsey's newborn screenings saying she had CF. When I told the pediatrician that's impossible because I was just a carrier and my husband tested negative he reassured me then that the second test would most likely come back that she was just a carrier too - in fact less than 1% chance that she had the disease! The second results did come back positive again and so we went to a childrens hospital for a sweat chloride test. That test came back normal - a sense of relief for a couple days! They told us that test wasn't completely reliable in infants unless it was a positive result so we would have to return every 3 months for 1 year. Our other option was to do the gene analysis which we chose to do. I just couldn't imagine going an entire year and making my self the weeks before those appointments every three months. Turns out we did get an answer sooner from the gene analysis, I was really hoping it would prove that she was just a carrier but unfortunately it didn't. They said no further testing is neccesary and made another appointment for us to return to the childrens hospital to "get established" and start working on a plan for Lindsey.

We learned at our first visit to the childrens hospital that they have learned a lot over the past year of screening newborns. One thing that really made me hold out hope that Lindsey was just a carrier is that they said most of the screenings that have been referred to them have been false positives. They have also learned that it is possible for a person to have two cf genes and not have CF. Lindsey has two different genes, but one came from me and one from Cris so that isn't good. My hopes is that she will become an example to them as a person who does have two gene mutations and that is it - no symptoms. I know that is just me being in denial but I wont give up hope until I see the first symptoms!

If you would like to learn more about CF you can look on-line at numerous websites. But, just know that they have made a lot of advancements over the last few years and so I don't believe all the information on-line is up to date and reliable. When i looked I was more devastated afterwards. Since then I have heard about people living with the disease and even getting married and having children! There are many degrees of this disease, I'm praying my baby has the mildest of them... You can learn more at http://www.cff.org/LivingWithCF/CareCenterNetwork/?gclid=CJ-r0vyH6ZYCFQv7agodkheIPg

Thanks again for all your prayers & good through all this.

No comments: