Here’s our story… my husband was 41, and I was 33 when we got pregnant with our 1st son. We’d had one early miscarriage about 3 months prior. We did not have the “harmony” test done, as, at that time, it wasn’t available in Australia. I had a friend who was also pregnant at that time, and her nuchal ultrasound came back as a 1:16 for a chromosome abnormality, so she had the harmony test done (sent to the USA at the cost of $1500). It came back clear, and she had a healthy son.
My nuchal ultrasound came back clear, so we didn’t pursue further testing. Sometimes I think about if we had found out about the diagnosis prenatally, and I don’t like where that takes my thoughts. Given the lack of knowledge and poor info on KS online (when you don’t know where to look), I’m unsure what our decision would’ve been. I know there’s no point even thinking about it, but I sometimes do! Please let me clarify that I have absolutely no regrets about having our son! He is the best.
My pregnancy was easy, with no morning sickness, minimal weight gain, walked 4-5kms most days and helped on the farm, and even surfed up until about 38 weeks! I was pretty small, or tidy as my husband said, and I didn’t even show until I was 28+ weeks. The start of labor was plain sailing, but I had non-progressive labor, which resulted in a Caesarian 30 hours plus later! This was more to do with previous surgeries, I think.
Jack was an easy baby to start with but had trouble breastfeeding; they would struggle to stay attached, so I had to use a breast shield for about 3 months. He was quite small at 3kg but did gain weight normally to start with. He slept through from 9 weeks and was easy to settle. His cry was quite quiet, and friends that didn’t have babies would say, “wow, he’s not like those really annoying babies who just scream and scream really loudly!”
He did roll over one way from 3.5 months, but not the other way, and he only did it occasionally, being quite happy to lie there and look around. When it came to introducing solids at 6 months, it was a nightmare. He was not remotely interested, and the most I got was 2 baby spoonfuls, and then he’d refuse more. We used to sit him up, and he’d stay sat up by himself but couldn’t actually set himself up at 9 months. We had to put pillows behind him until 15 months plus because he wouldn’t save himself if he fell back or forward.
He started to cautiously bum shuffle at about 10 months but never crawled. He walked doddery at about 16 months. He was and still is cautious and not a big risk-taker. However, he now has normal motor development at 4.5 y/o, according to a recent pediatric physio assessment.
I was always worried about his delayed milestones, particularly his height and weight, as he completely dropped the charts below the 1st percentile from 6 months old. I took him to numerous private pediatricians who finally did blood tests at 15 months, and he was very anemic. This has been a continued theme, but we have found a more palatable and easily absorbed form of iron which we hope is improving his iron levels (to be confirmed soon).
He was still a poor eater at 18 months and wasn’t getting the iron from the usually fortified cereals. I continued breastfeeding until he was 16 months when I found out I was 4 months pregnant. He probably wasn’t getting a lot from me, nor was he eating much. Now at 4.5, he is short but in proportion weight-wise. He eats a varied diet (not fussy) and can be coerced into trying new things. He has a small appetite, even to treat food such as chips or chocolate.
Speech wise he was nonverbal at 2 and was tested numerous times for autism, to which the answer was no. He used one-word words until about 3 but had a large vocabulary and excellent understanding. He has dyspraxia of speech but does improve, and it just takes longer. He knows the alphabet but doesn’t like being made to talk or practice. He loves reading and has a long attention span for the activities he enjoys (e.g., reading, puzzles, bushwalking). He can easily walk 4-5 km of steep terrain in hot weather. He’s also great on a balance bike (just starting Pedals now), albeit cautious.
Up until 2, he picked up every known illness (he attended daycare 2-3 times per week for 12 months). He would take ages to get over them and refuse to eat, resulting in dramatic weight loss. At 15 months, and after a particularly nasty bug, he weighed only 7kgs. We have since moved and done away with daycare and all the bugs and busy environment, and we have a fantastic au pair from which I think he really benefits. No illness since she began and lots of one-on-one and doing cool stuff like bushwalking and bike riding. We will continue with this until school. He attends a very cool outdoorsy preschool twice a week and enjoys it but mostly plays by himself. He is sociable and likes other kids but seems awkward and doesn’t easily get included. That is probably largely down to his delayed speech and slight immaturity.
He was diagnosed with KS after we moved to a new location, and we said we’d have one more go-pestering pediatrician. It was actually a GP who said I think something is going on which could be syndromic in nature, and he referred us to the public setting, and the pediatrician ordered a genetic array. She said she was as surprised as us at the diagnosis, as she hadn’t shared the GP’s view regarding a syndrome. She was also not that clued up about KS and was open about this. We were given a call to say the pediatrician wants to talk to you and your husband without Jack present tomorrow morning! Eeeek. I totally was not expecting KS. I am medical myself and had gone through the most common syndromes and had looked at KS and somehow dismissed it based on the tall phenotype!
We were referred to an endocrinologist who, after my investigation, did not have experience with KS. Before the appointment was due, I canceled it and found one who did, but we have to wait until April to see her. I, as a mother, have basically gone on a KS learning hunt, reading everything I can, engaging in forums, reading journal articles, and speaking with other mums or men with KS. My husband thinks I should slow it down a bit! But, I believe knowledge is power, plus I don’t have 100% faith in the medical system.
Jack is well behaved, follows instructions well, is polite and caring, and has a funny way of thinking about things and saying things that can really crack us up laughing. He plays great with his little brother and has a memory like an elephant, particularly things we’ve read in books. So far, fingers crossed, we believe he is at the lesser end of the spectrum and doesn’t display any of the comorbidities that others seem to suffer, aside from a little anxiety in large groups and slight immaturity.