Pre-genetic testing... has anyone gone through the pre-genetic testing/ in vitro for having a second child... we are considering our options because we only have one identified carrier, me and maddie is affected... any experiences or advice would be great... thanks ~ Maddie's mom Mary

Hi Mary

Like you my gene has been identified but my husband's has not.  Our oldest child Ben has canavans, our next child Harriet is a carrier and our youngest child Sam is not even a carrier.

Once we found that Ben had canavan disease we chose to have our next two pregnancies screened.  I had an amnio with Harriet because I was about 17 weeks before tests could be arranged and I had a CVS with Sam.  Both went fine, I really hate needles but it was ok they gave me a tiny injection of local anaesthetic which stung for a few seconds and then I was ok.

You can read all about us on Ben's website www.allaboutben.co.uk

Best wishes

Sally x

Hi Mary,

We had a CVS (chorionic villus sampling) test when my wife was 10 and a half weeks pregnant with our 2nd, it was really hard waiting for the results but we now have a lovely son, Ithan. It was very tough until the results but then we had absolute peace of mind that he didn't have Canavan's. It carrys about the same risk, maybe slightly more, than an amnio but it is carried out early enough to have a straightforward termination should that be your choice (never an easy choice but the earlier the better).

I hope this is helpful to you,

With kind regards,

Gareth

thanks so much for sharing your experiences! I really appreciate it!

we were set up for pgd (pre-natal genetic diagnosis where they do IVF and test the embryo's before implanting them) because we had intended to do IVF. Ultimately we did not complete the cycle so we never got to the point of actual PGD testing.

We also had a CVS test for a pregnancy at about 11 weeks. Ulitmately that did not work out for us either becuase the baby also had Canavan. I will say the CVS itself was fine, but waiting for results was horrible. My husband is a known carrier with a common mutation and I am a carrier with one of those found by research mutations. So, we had to have two seperate CVS samples taken, and sent to two different labs. We waited weeks for the results and they came back at different times, about a week apart. All in all it was a terrible situation.

In the end we decided that the absolute best choice for us was to grow our family through adoption.