21 November 2009

Oliver's CF Genetic Test

Last week, we had Oliver tested for Cystic Fibrosis.  We didn't think he had it but we had heard of stories of people who had not been diagnosed with CF until childhood or even adulthood.

His pediatrician took bloodwork and had his DNA tested to see if he had any, either or both of the CF mutations Bennett has. 

The results just came back and revealed Oliver does not CF.  Our hearts are very happy over this.

However, he is a carrier.  Oliver has the Delta F508 mutation.  This means that he is like us.  Oliver has one good gene and one mutated gene. 

Since Oliver is only a carrier of 1 mutated gene, he will have no signs of CF (again, like us).  But the importance of our knowing he is a carrier is that we an explain to him that should he marry and have children with another carrier, his chances of having a child with CF is 1 in 4.

For us, knowing this information is very powerful.  We will always be able to explain to Oliver about his chances of passing on the CF gene.  And we will also always know that Oliver will not have to personally suffer from Cystic Fibrosis.

1 comment :

  1. That is really wonderful to hear! And, FYI, my husband and I had genetic testing recently to determine if we had some issues that affected fertility, and it wasn't a big deal. I am sure in twenty years when Oliver wants a family, it will be even easier! The genetic tests picked up really teeny gene mutations, like the one that I have that affects folic acid metabolism. I think in this instance, technology is really on our side!

    Do you think you would have done anything differently had you have found out you had a one in four chance of conceiving a baby with CF? I mean, would you have prepared differently for B's birth?


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