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.

[clare2307]

Hi Pink,

I have PM'd you ( I think 😂) x

[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!

[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]

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

[seventimes]

I hope tomorrow goes well.

[clare2307]

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

[JinkxMonsoon]

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

[lljkk]

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

[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

[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

[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

[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 :)

[AnotherTimeMaybe]

You seem very strong
Keep the faith X

[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!

[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.

[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.