Genetic Testing Results

Monday, January 21, 2013

In December we received the results for our genetic testing. Joel's testing showed an alteration in the TSC1 gene.. Our testing of the TSC1 gene showed that neither of us have the same alteration found in Joel. So this means that his likely occurred as accident in the sperm or egg cell prior to conception. It also means that our chances of having another pregnancy affected with the same condition is very low. Since we already have one child with TSC the doctors said they can't tell us that our chances are zero.. But they did say our chances are a lot lower than if either of us would have had the same gene alteration. (It would be almost a 100% guarantee if either of us did have the alteration in our gene.) There is prenatal and preconception testing available to detect the alteration if we decide to have more children, but.. there is a chance of miscarriage with the testing.


We would love to be blessed with another baby one day but we're not sure we will have the prenatal testing. Obviously it could possibly give us peace of mind, but either way the results of the prenatal testing wouldn't change anything. We would never terminate the pregnancy if the results came back "abnormal." That's just not an option for us.

Oh, and I would like to clear up one more thing. Everyone we know has asked if Joel having TS is a side effect from the infertility treatment I took. The answer is no. This has nothing to do with that. That was actually one of the first questions we asked when we were told there were tumors on Joel's brain. We have asked other doctors since and they all gave us the same answer--no.

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