Is My Baby Really Free From Cystic Fibrosis?
Wednesday, November 4th, 2009 at
11:00 pm
I had an amnio done to see if my baby has Cystic Fibrosis. Well, when the lady called with the results she said that he didn’t have either one of our mutations, but isn’t there like over 1,000 different mutation. How do I know for sure that he is not going to have it? Does anyone have a CF child that has CF and doesn’t have either one of the parents mutations?
Tagged with: Baby • Cystic • Fibrosis • Free • From • Really
Filed under: Free Baby Stuff
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There are over 1500 Cf mutations on Chrome 7. If you and your husband are both carriers, 1 in 4 children born to you will develop the disease and two will be carriers and one will not have anything. Law of genetics. Ambry Genetics in California is the CF lab for reliabilty for DNA. I had a doctor do a screen test on me for the illness 4 yrs ago and told me I didn’t have it, I learned last year his panel was limited to the 23 most common screenings. When I grew pseudomonas in my cultures(lung bronch) and it didn’t clear, they were still baffled and started looking for lymphoma, which is a completely different diagnosis and I don’t have that. I do have cystic fibrosis, diagnosed late at age 50. I was working as a nurse, it’s a bit rare to be diagnosed this late as I was healthy my entire life, until 10 yrs ago with “asthma” sx. Please review cff.org and cfww.org. CF manifests itself in various forms and even baffles pediatricians, early clues are failure to thrive, malabsorption, meconium ileus, but these occur with other anomalies in newborns.The most severe is when gastro intestinal/pancreatic disorder manifests and then eventually everyone gets infected in the lungs/sinuses with pseudomonas/non influ haemophilus, staph and thensome. Then airway clearance procedures,chest pounding/vests,expensive meds, TOBI nebulizers, or IV picc line meds. Perhaps this baby is clear of the disease, but future children are at risk. I didn’t know my parents were carriers and now they have both passed and do not know I have this illness. I highly recommend DNA testing and insist on it with this baby and future children. It’s not something to just let it go, you need to know as your child does when they grow up. you can also look up cfparents@yahoo.com support group. Sweat testing is not reliable.