Possible Down syndrome at 4 months old

[MMummy2020]

Hi,

I was wondering if anyone had been through this. I’m currently going through a whole wave of emotions with my 4 month old daughter. Throughout her short life, and within the million photos I have taken of her there have been about 3 photos where I have thought ‘ooo her eyes look a bit down syndromey there!’ I then did the bad thing and googled symptoms.. it mentioned about simian lines on their hands, I checked and she has one on each hand! (Her dad actually has one on one hand and so does my son so not sure if that’s just hereditary but she has two) it then said about brushfield spots and she has them in 1 eye. Just with all the little things together it has scared the hell out of me and the doctor has now sent us for genetic testing (currently waiting for an appointment date 😩) other than this her development is completely normal and she’s a great baby! Happy chatty and strong! My scans and tests never picked anything up during my pregnancy and I came back low risk. When I look at her normally I don’t think she looks like she has it, but then I read about something called mosaic DS which can be milder. I’m just terrified for the future that I had hoped for her. Please can anyone share their experiences with this. I’m hoping she has the test and comes back ok.

Not Downs synrome but my DD got diagnosed with di george syndrome at 4 months.
Shes 25 now BTW. I had 4 scans when pregnant and they missed her cleft palate,
she also has moderate learning dissabilities, sleep apnea and shes partly deaf.

The good news is Downs children are lovely, good natured and affectionate and can have normal IQ. Hopefully it's not but not the end of the world if she has a mild case.

I have a son with Down syndrome (diagnosed at birth, low risk and nothing picked up on scans or tests- so a bit of a shock!), so I understand a bit of how you feel. I also know a child who was diagnosed with mosaic Down syndrome at one so it does happen occasionally, the classic features are really subtle on the child, she has mild learning difficulties but is still in mainstream school.
It's really hard not to stress but wait until you get the test results back. How your DD looks may just be how she looks (and I'm sure she's extremely cute!). Enjoy your DD and make sure you look after yourself too.

@Bumblebeeinatree Do you actually know a lot of people with Downs Syndrome to back up your comment? I appreciate you're trying to be kind to the OP but your comment is misguided.

Jesus, do you want to generalise and patronise anymore? I’m genuinely shocked people still talk like this in 2024.

OP, it’s a scary time and I hope your appt date comes through soon.

Try not to get ahead of yourself with fear and anxiety. If she does have Down’s syndrome- you will still love her and you will look after her. Our kids futures can change over the years - as can ours - but we find a way to make the best of things.

One of my sons was ‘normal’ till he was about 10 - then he developed severe Tourette syndrome. He still suffers, but manages it in public. He’s still doing well educationally and socially.

I know it’s not the same. But trust me, Tourette’s comes with a multiplicity of co
morbidities - it’s not straightforward at all. I’ve had to support him in many ways over the years - even now he looks to me for emotional help.

You cannot change things. Focus on what’s good, and enjoy your daughter. Already you are advocating for her in looking for answers - so that you can do the best by her.

xx

Thanks for your message 😊 yes she is very cute. even though the thoughts were on my mind I did think the doctor would turn around and say oh no she’s absolutely fine! But when she said oh yes I did think it a little bit and there’s enough things there to get it checked out it just completely knocked me! I just hope I don’t have to wait too long for an appointment for the test as I’m already driving myself crazy, the waiting is so hard! Just want to know so we can move forward with it and she can have any additional tests and care she needs, as I have read a lot about them being prone to other health problems and it kills me thinking something could be wrong with her health and me not knowing! She’s happy in herself though so I just need to roll with that and try stop stressing. God mum life is hard 🤣 I hope your son is doing ok 🤗x

Thank you for your message 😊 I know, it’s painful knowing something may be wrong with your child and not knowing, the waiting around to find out is torture. She is so loved regardless of the outcome, I just hope there are no additional health problems that come along with it (if DS is the outcome) as I know they are prone to some things - again I need to stay off google as it was just a wormhole of information that was just getting worse and worse 😂 I hope your son is doing ok x

Agree with others, what an outdated view this is. Maybe educate yourself a bit @Bumblebeeinatree before posting stereotypes like this.

@MMummy2020 bc it is genetic, Down’s is diagnosable in a way that some disabilities are not, so you can start support and any physio needed at once. Hope you get answers soon.

It is so hard waiting for news - sending a hug.

Aww what a worry! I hope you get good news

The genetic testing was really quick for us-bloods taken at 3am on Tuesday and results in before the ward rounds on the Wednesday. We also had a postnatal diagnosis, but so far aside from a few cardiac issues which don’t need any medication or surgery at present she is thriving.
There is loads of support out there if you do get a positive diagnosis, whilst you have a period of adjustment whilst you process the news if confirmed-it isn’t the end of the world, just a little different than anticipated

Thank you ☺️ did you have your tests straight after birth? I’m glad she is doing well! Hopefully once I get a test done the results will come through quickly after. Yes definitely agree not the end of the world at all and my love for her will never change. I just hate not knowing and the waiting! Especially thinking for the last almost 4 months everything has been ok xx

Yes we had the test straight after birth as her features were flagged shorty after delivery, but it was just a blood sample sent to the lab,
I hope you get an appointment and some clarity soon 🥰 Try not to worry! If she’s gaining weight and developing the rest comes in time