Chromosomal problem?

[mummybear1003]

My son was born 3 weeks early via emergency c section due to a heart problem (aortic stenosis) and we were told yesterday that this can have some links with certain chromosomal problems, the dr also mentioned our sons large forehead, a dimple in the base of his spine, slightly wide set eyes and seemed to focus on his low set ears. We have a several week wait until we get his blood results back and find out for sure but has anyone got any ideas/ experience on if they think my son has any issues? He was a late smiler (12 weeks) and hasn't met any other real milestones yet that I'm aware of and is now 4.5 months, he had surgery at 12 days and will have a second opp in the next month or so. I have attached some pictures incase anyone can pick up on some trade mark physical features, thanks in advance.

[beautifulgirls]

Hi Mummybear and thanks for the update. Sorry to hear that the test has shown a duplication but also I am glad for you all that they have identified this and now you have more information about what is underlying all of this. DD1 has a chromosomal deletion 16p11.2 and it took until she was 7 for us to know about this. She had lots of difficulties with speech, motor skills and social skills in particular. We cant "cure" these but we do now understand her so much better and the diagnosis has enabled us to get better support for her than we would likely have without it. As you said further up the thread he is still your lovely son and he will will always be. DD1 is a wonderful daughter and we work with her strengths and help her to be happy - which she is.

Rarechromo will hopefully have some information and you may find if you search facebook there will be some parental groups for the same genetic problem. I get a lot of support from similar groups for DD1 on there.

I hope your son continues to do well with his heart.

[MaisieDotes]

Thank you for the update and great news on your DS's heart.

You haven't failed at anything, at all. You know that! You are your DS's wonderful, loving, caring mum who he adores and who adores him.

I hope you get more info and clarity on his condition soon.

[mummybear1003]

Thought I should post an update. My sons heart is doing very well, unlikely to need his next op for potentially a year! We finally got the news we were expecting yesterday, he does sadly have a chromosomal abnormality, it's not got a name as it's very rare but it's a duplication on his 9q34 (followed by lots of numbers and letters) it is the reason why aged 9 months he has only just mastered rolling, can't sit or push up and I guess it means it's not me being a bad mum that caused him to be behind just my failure at growing him perfectly. We are unsure what will happen from here and what his outlook is just yet, should find out more in the new year. Thank you all for your responses though, guess it sort of proves to follow your instinct!

[AnotherTimeMaybe]

You seem very strong
Keep the faith X

[stareatthetvscreen]

aww sorry to hear the op wasn't a success

dd had problems as a baby and this happened to us too - its horrible and so worrying waiting but you will get through it xx

your ds is just gorgeous :)

[Quickqu]

Good luck with it all. My DD has a chromosomal abnormality but no facial clues - we only picked it up when she was four via a blood test.

Worrying about what it might be was exhausting X

[JinkxMonsoon]

Oh, sorry to hear it didn't go quite to plan, but you sound positive so that's good! I can't imagine the stress of repeat surgeries.

More

[mummybear1003]

Thanks everyone, he's doing really well, unfortunately the surgery didn't do what they wanted it to do so he is back on the waiting list for open heart but hell get through it! We are still waiting for results from his blood test

[lljkk]

X fingers all is well. Keep us updated. :)

[JinkxMonsoon]

I was thinking about this thread today. Hope the surgery went well

[clare2307]

I hope all goes well - I can't even imagine how it must be for you! x

[seventimes]

I hope tomorrow goes well.

[mummybear1003]

Second heart operation tomorrow morning, still no results from the blood test though

[bangingmyheadoffabrickwall]

I don't see an issue with his facial features at all.

A friend of mine has large babies with unusually large heads. Her youngest was sent for a scan because of the concern. No issues. Perfectly normal; he is who he is!
Another friend has a daughter who, when younger, had a large forehead, low ears and eyes set far apart from her nasal bridge which was small. She's perfectly normal.
A friend has a child with a similar heart condition. He is small for his age, but given that he has had several open heart surgeries and technically he is terminally ill because there is no cure for his condition, he is perfectly fine.
My DS aged 4 was a 'late developer'. He didn't roll over as an infant, he didn't sit unaided until he was nearly 9 months, crawled at nearly 12 months and walked at 15 months and verbally he didn't have a lot of language at age 2. Now he isn't even at school (September) and he is beginning to read, write and calculate simple number problems.

Don't look for things that are not there (yet - and could never be) and step away from Dr. Google.

[mummybear1003]

Update on original post- my son has another check up next week (mainly in preparation for his heart surgery in the next few weeks) so hopefully I might get another opinion!

[clare2307]

Hi Pink,

I have PM'd you ( I think 😂) x

[cestlavielife]

re appointments remember you can call and change them to get eg first one of the day or last one so less time off work. you can sometimes arrange diff appts on same day.

www.workingfamilies.org.uk/articles/the-waving-not-drowning-campaign/ is for working parents of kids with disabilities

[PinkPearls20]

Clare my DS is also smaller then what his DS was...it's the low muscle tone probably

[PinkPearls20]

I could write your post Clare...I used to see others his age sat eating a small sandwich at dinner- literally passed to them and they would eat it, while I would be breaking it up and putting it into his mouth...then one day...he put my mascara- opened mascara into his mouth! I didnt know if I should have taken it away or left him to it...(I left him to it ) ...now he self feeds and trys to use a spoon. I enrolled him into a nursery which I didn't have to do as my mum and dad could have him for me while I was at work. I think that may have helped a little in reguards to sitting in a chair and self feeding as A: he saw others doing it & B: The nursery nurses emotions wernt involved in it so they could be harder & C: kids can be different in nursery/school then they can be at home..no matter what age/stage they are at!!!

My DS still now can't raise his head when he's lied in his front. He wont raise himself on his arms either. He will just lie there with his head to the side flat on the floor.
Have you been refered to a paediatrician? When I saw mine, at the end of the appointment he said 'Im going to close my eyes when I say this to you and just say 'Global Delay'... Which I HOPE he was meaning was...hes just a bit slow, he will catch up, there is bugger all wrong with his brain etc in my opiniom, but I need to do tests just to cover all bases'.

I'm guessing your daughter's exercises are similar to the ones we have. We also have regular play therapy sessions with a lovely lady who encouraged exploratory play. We have made sensory baskets for my DS which he loves to have a rummage in. I know you said your DD doesn't sit up completely yet, but she will. Iv been where you are at 10.5 months and believe me one more month can do a world of good...they can go from being like a wobbly egg...to just...doing it!

[clare2307]

No, doesn't put anything in her mouth other than her own hands. No food, toys, sippy cup etc! She is however happy to eat all sorts as long as I feed it to her which is fine at meal times but means for getting her to try more solid food I need to sit and do it for her which is very time consuming. Would love to put her in high chair with some toast & fruit and get the kitchen tidied up of a morning but she would literally just sit and look at it.

Her sitting is improving but still nowhere near being solid. Also as she gets older I'm less inclined to think she has issues with hearing as sometimes it's as if the sound registers with her as she will smile but she just doesn't know how to react to it.

She is just so different to her sister - she is still smaller now than her sister was at 6 months! And up at least twice every night whereas my eldest slept all night from about 3 months!

[PinkPearls20]

Also...my DS older brother also reached his milestones very quicky so this is a shock as well to have a DS that hasn't!

[PinkPearls20]

Clare...you describe your daughter like I woukd have described my son at 10.5 months. However by 18 months he can defo hear and looks at you when you talk, dances to music etc. He still only rolls like your daughter can... he also sat up a little later but now hes very solid when he sits, so tour daughter probably will too. Does she self feed? My DS didn't put a thing to his mouth until around 14 months amd still can't lift the cup for a drink.

Let's hope our children just have a 'Global Delay' and that they will both catch up. It's a bloody worry...

[clare2307]

Hi Pink,

My daughter is only 10.5 months but her core/trunk is weak and she can't sit unaided and her arms are weak-she doesn't prop herself up on elbows or hands when on her tummy at all. She also can't roll from her front to her back (she can do back to front - but to one side only, her other side is however getting there with LOTS of practise & encouragement!) Her fine motor skills are pretty poor for her age and we aren't sure about her hearing yet. She passed the test at birth but the most recent one was inconclusive. It could be however due to her development rather than hearing but she doesn't respond to loud noises or turn her head to your voice or other noises. She does however weight bear on her feet very well & loves to do it and even attempts steps while holding your hands.

My work are thankfully very understanding and fine with me taking time off - I had to call up and ask for the morning off on my second day back for her next hearing test, which isn't ideal timing but never mind.

My older daughter was probably on the early side of normal for her development which I guess probably makes my younger daughter seem more behind than she maybe is.

You want a diagnosis so you know what's going on but then you don't because then there is still hope that it's all a fuss about nothing and they are just slower than average.

[Iamthegreatest1]

OP, no help here, but I have picked up on his trademarks of cuteness. Perfect cheeky smile, chubby hands. I'm not a doctor but he looks like a fine ball of squishyness. Sorry!

[yomellamoHelly]

When ds was diagnosed with a genetic condition the letter also listed his a number of his physical features as not being normal either. Can't say I'd noticed them and I still think he's totally gorgeous.
As is your ds. Good luck with how it pans out.
FWIW ds's diagnosis in no way affects how we love and treat him and, certainly at the moment, seems irrelevant to his day to day life.