8 month old not hitting milestones - sent for genetic testing

[CurlyNo2]

Hello

Just after a hand hold really.

I have an 8 month old (soon to be 9 months) and he doesn’t seem to be hitting his developmental milestones. He’s my 2nd child, first child also had delayed milestones but this was due to a birth injury. He’s a big baby who’s very heavy, with a large head. People are shocked that he’s only 8 months when they see him.

The main delay is sitting unaided and crawling. He isn’t interested at all, flops to one side, very wobbly sitting up in his highchair if it doesn’t have a head rest. He holds his head like it’s too heavy for his body.

I spoke to my GP as I had concerns that he seems to tilt his head to one side and when in tummy time, didn’t look left. He said maybe it’s because his head is too heavy for his neck, which seemed plausible but referred me to see a paediatrician at the hospital.

Met with the paediatrician who observed him and whilst there he was doing some good activities and checks but some of his major development was lacking. He measured his head circumference and said it was at the top of the percentile scale.

He asked me to spend the next 4 months with him on the mat doing tummy time but in the meantime he has asked for genetic testing to be done with no explanation. This has be worried sick. Just before I fell pregnant with my son, I lost a baby in the 2nd trimester to Edwards Syndrome so fully aware of genetic issues, this crippled our family!

I read posts on here about what parents 8 month olds can do and they all seem so advanced to what my son can do. I love him regardless and he’s such a happy baby, but I’m so sad that he hasn’t quite reached where he should be or what is defined as ‘normal’ and now we are down the genetic testing route.

I’m scared of what the outcome may be from the generic testing.

Thanks for listening.

Hi OP

I don’t have any relevant experience to share, however wanted to send you a hand hold! I’d also be very worried but try your hardest not to worry until you have the tests of the genetic testing.

I think it’s common for some babies to be late crawlers and some never crawl so this in itself isn’t a red flag. Your DS is still so young and if you’ve been asked to do tummy time and watch and wait then the professions haven’t yet diagnosed a definite developmental concern. Sending you best wishes.

OP, I’d start by asking paed why he’s referred your baby and if he’s requested any specific tests. Genetic testing can be very scary but it doesn’t always turn out bad, and doctors, as mine told me, are trained to explore what ifs and error on the side of caution. It may be this is a just in case check rather than because the paed has any specific genetic condition in mind.

Our baby was referred for genetic testing because they thought he had Downs following his newborn check right after birth. They had specific “soft markers” they wanted to explore but in the end tests came back normal and geneticist will not pursue additional tests unless we feel there is something concerning with baby’s development in the first six months. As explained to me they need enough clues to know what to test for as DNA is so complicated that they just look at for certain things rather than check all aspects of DNA. You might have, for example, a microarray test which can catch things like deletions in parts of the DNA.

Try not to worry until you know something for sure. There are variations on normal and they’ll ask for immediate family history so your first child having developmental milestones might be relevant. It’s really hard, I know. I often burst into tears just when the doctor said hello as I’d be so scared of what they’d say. I still struggle four weeks after normal results too fearing something is wrong physically with baby or he won’t meet his milestones. It’s hard to stop thinking in this way after genetic testing but it’s not helpful for your bond with baby so do what you can to avoid this thinking. For me it was taking photographs of baby but something else may work for you. Get support where you can too, whether that’s family or a local support group. I didn’t want to talk to friends or family but my dh was my rock and I accessed some counselling on the NHS.

Hope this helps. It’s all fresh for me so if you have other questions just ask and if I can help I will.

That should say your first having delayed developmental milestones may be relevant.

I completely get where you are coming from. I am experiencing similar with my 10 month old daughter. She cannot sit up unaided...she has only rolled over once and that was a couple of weeks ago. She is very unstable and wobbly. She has a cows milk allergy and struggles with constipation. Whilst she can use her hands...her coordination isn't the best. She constantly jolts and her head leans to one side like she is struggling to hold it up. She is also a big girl. She was 10lb 9oz when she was born. She won't eat anything with texture. She is my 4th child but I feel like a first time mum as I have never experienced this before. We have an appointment next week with the peadiatrician and also for physio. Hope everything goes okay for you and your little one and you get the answers that you need.

Have they offered you any support @CurlyNo2 or just said "do tummy time".

Do you know when your next appointment is?

I think I'd be tempted to ring the HV and ask for a referral to Portage

Hi? Just wondering what happened?