This is my 6-week-old son. He is a very happy and healthy baby that breastfeeds well, has great muscle tone and is extremely alert and interactive. He is just like any other 6-week-old and he has Klinefelter syndrome genotype.

We first became aware of the possibility that our son had Klinefelter syndrome through a NIPT test (non-invasive prenatal test) I took when I was 8 weeks pregnant. The main reason for having this test done, for us, was to find out the gender of our growing baby. A week after the blood test, my Obstetrician phoned to tell me the results. I eagerly answered the phone, excited to find out if we were having a boy or a girl. However, I was met with the somber voice of my obstetrician telling me the test results were in and there were some “red flags”.

He told me there was a high probability that my baby had Klinefelter Syndrome, and that we should go and see him in his office the following day to discuss what this meant. Having never heard of Klinefelter syndrome genotype before I asked him what it was, however, he was reluctant to give me any information about it over the phone. After hanging up I burst into tears. I had no idea what Klinefelter Syndrome genotype was, and had only ever heard of the more well-known syndromes like Down Syndrome, and this terrified me. After telling my partner the news, we did what anyone else would do in this day and age and “googled” Klinefelter syndrome genotype. This was our first mistake.

Firstly, this is how we found out we were having a boy. Not by a gender reveal, or being told by our doctor, but by our google search that revealed it was a genetic condition in which a male is born with an extra copy of the X chromosome. Surprise! This was not the way I had imagined finding out the sex of our child or telling my partner.

We then started reading about the symptoms of Klinefelter syndrome genotype, and this scared us even more. ADHD, breast enlargement, flaccid muscles, infertility, osteoporosis, small penis. These symptoms hit us like a ton of bricks and had us contemplating whether or not having this child was the right thing to do. What would his quality of life be?

This was a lot to take in, as I had never even entertained the thought that the NIPT test would come back positive for any genetic conditions. We saw our obstetrician the next day, and he suggested I have an amniocentesis to confirm the diagnosis of the NIPT test as it is not 100% accurate and does sometimes give false-positive results. So to confirm KS we could get the amniocentesis done at 16 weeks or wait until our baby was born and test his blood. Either way, we had a lot to consider.

Night and day, we continued to do our research into Klinefelter syndrome genotype. We started to slowly understand what the syndrome meant and how it affected men in the real world, and not according to Google. We read research papers, joined support groups on Facebook, and even talked to men that have Klinefelter syndrome, and I think this was the most valuable thing we could have ever done. The first man with Klinefelter syndrome genotype I spoke to was Ryan Bregante. He is a champion for Klinefelter Syndrome genotype and works tirelessly to spread awareness about the syndrome and to show that men with Klinefelter syndrome are just like everyone else, if not better. Ryan has many skills and abilities and is a qualified chef, a motivational speaker, and a photographer. He honestly gave us hope and an understanding of the syndrome that Dr. Google couldn’t give us.

We started to realize that Klinefelter syndrome affected men in different ways and that it has such a broad spectrum that many men don’t even know they carry an extra chromosome.

After a lot of consideration, we decided to go ahead with the amniocentesis, as we didn’t want the unknown hanging over our heads for the rest of the pregnancy. We did, however, decide that no matter the outcome we were going to have this baby. After all, it was a part of us that we couldn’t possibly let go.

A week after the amniocentesis, the doctor who performed it rang me to confirm that our son did have an extra X chromosome and was positive for Klinefelter syndrome genotype. That doctor then started explaining to me that we shouldn’t feel pressured to keep this baby, that there was no harm in terminating the pregnancy and trying again for a baby that wasn’t affected by this syndrome. That doctor then proceeded to tell me that his partner was pregnant with a baby that was diagnosed with a similar syndrome and they chose to terminate it and try again. He told me it wasn’t about creating the perfect baby, it was just that we didn’t have to raise a child with this syndrome if we didn’t want to.

This was very shocking to hear, to say the least, and something that still upsets me to this day. There is no way to tell how Klinefelter syndrome genotype will affect your child and to think expectant mothers are being told to terminate their Klinefelter syndrome genotype babies is in my opinion just appalling.

After Klinefelter syndrome genotype had been confirmed we felt a certain weight had been lifted. We continued to speak to families with Klinefelter syndrome kids and spoke with us who assured us our son would be perfectly fine. It was then that we were able to start to enjoy the pregnancy. We had regular check-ups with our obstetrician and enjoyed every ultrasound that came with those visits. Each scan showed a strong and healthy heartbeat and that our boy was growing just as he should be.

When he was ready to arrive, it went very smoothly. It was very quick labor of only 3.5 hours (which we were not expecting given he is our first child!), and there were no issues. I gave birth naturally and he weighed a healthy 3.7kg. He started breastfeeding straight away with a really good latch and now, at 6 weeks old, he has great overall strength and control, is steadily putting on weight, and is hitting all his milestones. He is an extremely happy baby that sleeps through the night and we really couldn’t ask for anything more.

I know how scary it can be to hear that your child has Klinefelter Syndrome genotype and how confusing and stressful it is but believe me, there is so much light at the end of the tunnel. Klinefelter syndrome boys are sweet, kind, and compassionate. There will be nothing “wrong” with your child. All kids can have issues with their development at some stage in their lives, Klinefelter syndrome genotype or not, and at the moment we are just focusing on the now.

The advice I would give to an expectant mother of a Klinefelter syndrome baby is to just enjoy your pregnancy like anyone else and look forward to meeting your eXtra special little guy. Love Mom.

Here is an amazing Pediatric endocrinologist Martha Bardsley MD