Waiting in DS genetics any support/advice appreciated

[Boogiewoogieanddance]

I dont even know what I'm going to write here, I just had so many thoughts/worries.. Could be long

DS is nearly 7 months. He was so happy, still is. He had a bit of weight loss between 10-15 weeks and query cows milk allergy so he's now dairy free.

He has only just mastered head control in the last month or so (but would still be quite hunched over a lot of the time, like very tense), can roll from back to front but not the other way. Is happy doing tummy time and can raise his he's duo although not for really long and would then just lye down and look around him (again he is only doing this comfortable in the last month or so). Making very little effort to sit, could nearly use his hand to balance up a bit but then literally just folds in half. If his weight isn't forwards he would just topple back/sideways.

He's had bloods and a brain scan, under consultant care, and we are waiting on genetics coming back. He has been seen by physio regularly since 4 months and been seen by occupational therapist. They haven't said there is anything they are concerned about specifically but also that it could just be he is behing because of his initial weight loss. Hes finally moving up the centiles again.

All in all its been alot for me and I have been trying hard to not show I am worried for everyone around me, partly because I don't want my other kids to worry and partly because I feel so guilty that I think something could be wrong with him and having these thoughts weigh so heavily on me are taking some of the joy out of this baby stage which I genuinely love. I don't want to wish it away, but I just want to know what the future will hold. I don't know if I am overthinking an being dramatic, I am generally quite a calm person so I think rationally Im not being dramatic. I go to all his appointments myself as DH has to stay with the others/work and I am so anxious that I am not missing anything/gathering wrong information.

If anyone who has been through similar could just validate my feelings I think that would help. Some days I am fine, others I will just cry out of worry/guilt/being knackered.

Bloods where taken for genetics end of May, does anyone have experience of this and how long did it actually take?

Why was he referred to genetics in the first place?
Why was he referred and seen by physio at 4 months?
At 6 months I think what he's doing sounds developmentally ok but to have so many professionals involved it sounds like something more is going on? Was there any other concerns earlier besides weight loss

Are there other reasons why a genetic issue is being considered?

Sitting with support is usually expected by around 9 months, but unsupported by about 12 months. It seems a little early to be this concerned unless there are other factors at play.

Are they doing a micro array or you are just waiting for an appointment

I have done all of the things so I understand .

Do you notice a difference with him and your other children ? I presume the scans were normal ? They don't do those lightly . Have you seen a developmental paediatrician?

Sorry I've re read , in my experience it takes forever . I think it was 3 months but you can chase it and as when it will be done .

Oh gosh , I understand. I was there too . Ds was very small and the doctor said he had ‘dysmorphic facial features ’ . He did not roll over so we were sent to a physio and he had prescription milk after being tube fed and seeing a speech there’s to help him swallow . It was stressful and I remember doing one thing totally out of character, because I am normalised very compliant with people in authority , but the consultant wanted to take a photo of him to show colleagues and I flat out refused to have my beautiful boy stared at to find fault with his features. Anyway after 5 years of back and forth they found nothing genetically wrong and he was discharged from consultant care .
Now my beautiful boy is sitting here on the sofa next to me . He is now nearly 8 , doing well at school , plays football and does martial arts . He is still a very fussy eater , but is a similar hight to peers . Please try not to worry to early x

I've been there with 2 of my boys. It's extremely stressful and the answers, if you get them, are sometimes extremely vague. My 4th son has some potentially dodgy bits in his DNA that could be the cause of his problems but again, might not be. We've given up on trying to find out why he is like he is for now.

They usually start with the mirco array then fragile x before actually seeing a genetic Dr. I believe it does take about 8 weeks per test. He might just be a little behind so try not to worry.
My youngest has a genetic condition and I could tell within weeks of him being born that he was different to my other children when they where younger. But only got a refer all over to a paediatrician when he was nearly 2. Dr's wouldnt listen just said health visitors can do a referral at 2 years of they think he needs it. Hes now 11 years old took till he was about 6 years to get a diagnosis.

Try not to worry.

Sal

Yes, the scan was normal thank god.i asked the consultant why it was done and it was just due to his weakness.

He was referred initially due to weight loss and head lag and was seen by dietician. He dropped too many centiles, so his head was 90th and weigh was 0.4th. He didn't put on weight again as quickly as they would have like which is when the further tests where ordered.

He was referred to physio because of the head lag initially, and he couldn't raise his head during tummy time. I always go to appointment feeling positive about his progress but leave feeling deflated as they will find another thing to keep an eye on.

The genetics test, I'm not sure 100% was the name is but they are looking for any alteration, micro deletion etc.

Honestly, I do think he is different than my others in how he holds himself. He is much quieter, very placid but happy.

I have obviously googled, which I know you shouldn't, but how do you not?? Most conditions I can rule out of my worries but there is one called Angleman Syndrome where some of the characteristics are having a wide mother and very happy. Even before I knew of this condition I would have commented how happy he is and wondered if how big his mouth was normal.. So that's been wrecking my head.

Honestly I am just so fed up of feeling sad for him and guilty that I feel this way even though he may be completely OK.

OP I'm sure it's so hard not to worry or Google things but I don't think it'll benefit you to try and diagnose anything yourself, so much of what your baby has is very typical. My son didn't roll either way till 7 months and saw a physio for only turning his head one direction and he is completely healthy. Hopefully the tests will all be fine but even if they aren't worrying yourself, potentially unnecessarily won't help. Have you spoken to anyone yourself about how you're feeling and support?

As someone who suffered from PNA and PND I massively regret the time I feel I missed enjoying my baby because I was so anxious something was wrong with him.

Thanks @Honeybeesintrees

I know that the chances are that he will be totally fine and I am trying to remember that but my gut is just saying that something is off.. Although I know it could just be because of all the professionals involved.

I have been speaking to my GP and waiting on counselling for unrelated matters but I can obviously talk about this aswell. I am due back at work so am currently on sick leave for PND and they have been constantly on my back this last month about getting back which is massive unadded stress as I have a meeting in the next week which could result in a formal warning. I have my own medical in investigations ongoing aswell which is a worry.. I appreciate I sound like a paranoid wreck here. I'm really not, literally everything has just happened at once.

It's no doubt the micro array you are waiting for . Be aware these can often be clear but there is still an issue .

My son is what's known as a swan ( syndrome without a name ) there are many many children with genetic blips that haven't been seen before and have no name .

I was you and I knew in all honestly there was an issue early on but I was scared he would be completely disabled but he isn't . He can walk and talk a bit and is a genius on the x box . It's no where near as bad as predicted .

My friends son has angelman and it's very rare but even he has done better than predicted .

@ForeverYellow , any chance you'd be willing to DM me? I'm in a very similar circumstance but ds is still young and we are waiting on testing still. Your post really gave me some more hope so would love to hear more if you are willing to share.

To the OP, how are you getting on now? I think the emotional rollercoaster feeling is very normal. My ds is a little younger than yours but has had genetic testing off and on since birth. I describe it as feeling like there's this dark cloud hanging over you. Sometimes you can't help but look at it, other times you try to ignore it and get on with the day, but it is always there...it's really the worry, isn't it, that makes it so hard when you love your child so much. I've heard good things about SWAN UK if you haven't already joined.