I still remember that phone call only a couple of weeks out from Christmas where my husband and I were chasing the results of our NIPT test. We really just wanted to find out the sex of our second baby (as we were too impatient to wait until the 20 week scan) and naively I didn’t think for one minute our results would come back with anything more than whether our baby was going to be a boy or a girl. I had been chasing my results for over a week and when I finally received “that call” with the results we were advised we needed to come in ASAP to discuss the results of the NIPT with my Obstetrician. I still remember the sick feeling in the pit of my stomach.

Sitting in my Obstetrician’s office I was so happy to have my hubby by my side as all I heard from the discussion was extra chromosome, infertility, learning difficulties and termination was put on the table as an option. We walked out of there with our heads spinning and jumped onto google not even knowing how to spell Klinefelters as we had never heard of it. I didn’t want to have a CVS done but felt like I should so we could understand the full picture and confirm our baby boy was XXY.

Two conversations greatly impacted me in those early days – one with the Genetic Counsellor prior to the CVS and the other a mother of an XXY boy for which I am so grateful. The three key things I took away from these discussions were:

• My unborn sons diagnosis of XXY will not define him
• It is a spectrum, be careful not to label or confuse XXY traits as a lot of these traits are consistent with those of regular boys
• You didn’t sign up for this for your son, however with your other children there will be things you never signed up for either After having the CVS done a week out from Christmas the hardest part was waiting for the results and also the possibility I might miscarry from this procedure. I was actually relieved when the results came in that it was just XXY. I decided from that moment I was going to enjoy the pregnancy and realistically it won’t be for at least another couple of years where the symptoms of XXY may show.

All this dark and negative thinking wasn’t good for my mindset and having the ability to be conscious of this and think positively really made a difference for me.

After my gorgeous son was born there have been some key moments that have stuck with me over the past 2.5 years:

• Our Pediatrician at birth and then again at the two year check-up saying how lucky we were to have a prenatal diagnosis and he is not displaying any classic signs
• An old work friend at a lunch cuddling my baby saying he is perfect and wants a baby just like him
• Walking at 12 months – I was in disbelief our other son didn’t walk until 16 months
• Participating in a Klinefelters speech research study at the Royal Children’s Hospital with my son’s speech results falling in ‘normal’ range
• Watching the strong bond grow between my XXY son and his older brother – they are so close and just do regular boy stuff like run and wrestle

My gorgeous boy is only 2.5 years old and is early days I know. Our journey (post those early dark days) has been wonderful and he has brought so much joy to our family. I am conscious that kindergarten is only 18 months away, and challenges may appear. I feel so lucky to have had a prenatal diagnosis as we are aware and informed and I wouldn’t change him for the world, he truly is an exXtraordinary boy.