Written by: A Mother in Australia

Our journey began after 6 years of IVF. I had decided not to go one more round and my husband Pete decided we would (yay for Pete) we received our early positive pregnancy result. It wasn’t uncommon for us to return positive tests with and without assistance (IVF) as we returned several positives that didn’t progress. In December we had a CVS test done as I was 43 and my obstetrician recommended it. I approached this with naivety and one positive to come from that nauseating painful experience was the imaging they used was amazing. We got to see a brilliant picture of our gorgeous baby. It left me feeling very uncomfortable, although I had been experiencing some morning sickness at this point. Days passed and we were anxiously awaiting the results.

I decided to call our Obstetrician/IVF doctor to see if and why I hadn’t had any results. We had a great relationship with him as we had been trying to conceive with his assistance for several years at this point. When my call was transferred to him he was surprised we hadn’t been contacted as this is what the plan was as far as he knew from the imaging place in East Melbourne. He then delivered the Klinefelter syndrome result to me with no preparation for delivering that news. This is how I recall the phone conversation Klinefelter syndrome, tall, you are having a boy, infertility and that’s about it. After the call of course I frantically started to google & became incredibly scared. A meeting with a genetics counselor was arranged which had us drive 2.5 hours from home to maybe the hospital where we had a 10-minute appointment with a professor in Genetics. We left with not much more information. Just that his IQ would probably be 10 points lower than other biological siblings. Unfortunately, he didn’t even have a fact sheet or booklet for us to take away with us.

Our obstetrician throughout our pregnancy was wonderful with snippets of encouraging information regarding the Klinefelter syndrome, even though the way he delivered this diagnosis to me wasn’t great initially. He reinforced that so many guys lead very normal healthy lives and don’t know until they start to try and have families. I am very grateful for the pre-natal diagnosis even though I think we could have been more proactive in the early years (up to 4) as he was just a regular baby/toddler. I did take him to OT and speech therapists but he was never majorly behind so we just kept up the wait and see approach. However from the end of prep, we started to see a speech therapist, OT and informed both of his diagnosis and they still support him to this day – speech weekly, OT fortnightly. It is more about us choosing to have this support rather than it being a must… In summary, a prenatal diagnosis in our opinion is the best tool you can have for supporting a child with Klinefelter syndrome. Original article here