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Children's health

Chromosomal problem?

66 replies

mummybear1003 · 24/07/2016 00:28

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.

Chromosomal problem?
Chromosomal problem?
OP posts:
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grumpysquash3 · 28/07/2016 22:24

Your DS is gorgeous!
His ears do look low, which often indicates a chromosome issue but not always. I can see why your consultant thought he had some features, but they are definitely not extreme.
However, it is very easy to test for. At the end of the day, if he's not affected on a day to day level and is happy and healthy, it doesn't really matter what his chromosomal composition is.

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zippyswife · 28/07/2016 22:24

Sorry I have no advice. But wanted just to say he is gorgeous!!

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PinkPearls20 · 28/07/2016 22:30

Hi everyone. Sorry to gatecrashed but I ant to stay on this thread.

My DS (18 Months) has got blood tests soon as he has a global delay...mainly physical. I'm so scared of the results. The tests arnt until September and then apparently it takes a few weeks. I feel ljke I'm adding through treacle with it. I'm so worried about him. He can't stand up, use his arms to hold his bottle/cup, no balance, physio said he's got no 'linking movement's. It's breaking my heart to think he could be in pain. Hes eventually bun shuffled a few months ago but can not crawl as he doesn't put weight on his arms.

It's reassuring that others are going through the wait ljke me and my husband amd to get it all out and written down. I don't talk about it in RL as I can't bear the fact that problem don't know what to say to me when I tell them. On my husband's side there is a history of CMT, so who knows if he's got that.

It feels nice to write some of it out. Hes actually stunning to look at...and I'm not just saying that because I'm his mum, he generally is. I'm so proud of him, I'm just so worried he might have a life of pain, it breaks my heart.

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PinkPearls20 · 28/07/2016 22:32

Sorry to gatecrashed...I was just thrown to find other people waiting for tests etc like me. I'm so lonley and sad

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PinkPearls20 · 28/07/2016 22:34

Sorry for the typos I was trying so fast on my phone !

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QOD · 28/07/2016 22:36

Flowers to you both

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schbittery · 28/07/2016 22:38

My 2 youngest also have hypermobility/Ehlers Danlos and both also have sacral dimples, as does my sister. One had a small hole in his heart at birth, healed on its own. All three are completely NT. They were both tongue tied at birth, don't know if that is related. I suspect there is a gentic component to it all, but luckily it doesn't bother them at all, they are just very bendy. One had to have physio as he toe-walked and to strengthen his very floppy hands so he could hold a pencil properly, no other issues.

your son is super cute!

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mummybear1003 · 28/07/2016 22:38

Thank you everyone for the lovely comments on how gorgeous he is! And pinkpearl, tell me about it, I'm lucky as they are testing hi so early on but it's hideous whatever, whatever the results for your little one you will continue loving them and being so so proud of him! It was devastating when I found out about my sons heart condition but at the end of the day it's just another hurdle we've had to jump and jump it he will! Kids are strong and as long as they have strong loving parents they will stay that way. Obviously we dream of our babies being 'perfect' if you can call normal that but to us they will be perfect no matter how they look/ or what battles they face!

OP posts:
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schbittery · 28/07/2016 22:39

At the end of the day, if he's not affected on a day to day level and is happy and healthy, it doesn't really matter what his chromosomal composition is.

This is what I was trying to say :)

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Lemonwords · 28/07/2016 22:40

I'd recommend looking at SWAN - syndromes without a name. Your first tests might come back negative and then they'll order some more and it can go on a bit.

He's really cute. The fact he's not got low muscle tone and is clapping his hands is great news.

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PinkPearls20 · 28/07/2016 22:43

Someone who came to my house to visit us (a outreach worker I think) described it as we are just taking a right turn on the path of the future I had imagined for us.
It hurts so much to see other people getting on with their children who are reaching all milestones at the average/expected age. You really do feel like you are alone with it all don't you. I hope the blood tests don't hurt him and I REALLY hope they come back all negative....I hope hes just lazy!! However I can see hes weak. Mummybear it is good they are testing your son so early, that way the more intervention the better!

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ApocalypseSlough · 28/07/2016 22:46

He's gorgeous! DS has a range of non NT conditions, including severe pectus excavatum, bicuspid aorta, low ears and ear canals so narrow they couldn't even get a reading. He had his chromosomes counted and is now grade 8 violin, an elite sportsman and awaiting his GCSEs- he hopes to get all As/ A* so confident if not proven yet Hmm
Please don't worry. Flowers
Provision for children with medical conditions and SN is ever improving and he has the best predictor for a great future- a loving Mum onside.

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SlightlyCrumpled · 28/07/2016 22:47

Hi, what a beauty! My son has a deletion on the 22nd chromosome. It's actually thought to be the second most common abnormality after Down syndrome. He has low set ears, almond shaped eyes & was late to meet milestones. It's called 22q11 deletion syndrome.
He was a late diagnosis at 4 years old and I can clearly remember the horrible time waiting for a diagnosis. To be honest, when we eventually got it we were relieved. Questions were answered & support put in place.

As you say, mostly nothing changes - still your adorable boy!

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ApocalypseSlough · 28/07/2016 22:50

Sorry pink that was an unfortunate x post. You too sound like amazing parents- DS was also very late to meet all his milestones. Whatever happens you too sound very equipped to cope. Flowers

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clare2307 · 29/07/2016 06:22

Hi Pink,

Sorry to hear your son also has delays, it's hard isn't?! I am due back to work in 2 weeks and have had to try and explain to my boss about my daughter as I will need time off for the barrage of appointments she has coming up and it's difficult when there is no diagnosis. I am still praying she is just a bit lazy & slow but like mummybear says, they will always be perfect to us no matter what!

Try to keep positive and working on things with your son and take any help and advice you can. My daughter has just started weekly physio sessions and has an exercise plan home which (I think) is already making a small difference. She seems very weak on her top half and I feel I can see a slight improvement in her arm strength.

I think nowadays with social media and the like it's easy to focus on what other kids are doing and what yours 'should' be doing but please don't let that get you down. They are all different and your DS is very lucky to have you there fighting his corner for the help he needs x

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PinkPearls20 · 29/07/2016 08:01

Hi Clare! How old is your daughter? My DS is also weaker on his top half and in his arms. His core is so weak but he can really weight bear and likes to do steps holding peoples hands.

I have the same issues at work with all the appointments but I just think 'tuff'. If they say one word I'll explain that I'd rather work 60 hours a week then have to go to one more appointment. If you ever need to talk PM me as if your anything like me you will be feeling fed up at points xx

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yomellamoHelly · 29/07/2016 08:08

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.

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Iamthegreatest1 · 29/07/2016 08:08

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!

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clare2307 · 29/07/2016 08:23

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.

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PinkPearls20 · 29/07/2016 08:29

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...

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PinkPearls20 · 29/07/2016 08:30

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!

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clare2307 · 29/07/2016 09:15

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!

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PinkPearls20 · 29/07/2016 09:29

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 Grin) ...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!

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PinkPearls20 · 29/07/2016 09:30

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

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cestlavielife · 29/07/2016 11:14

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

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