Not sure what to do :(

[anon1110]

Hi,

Just looking for a bit of support really, haven't posted on this thread before, so bear with me!

My son was born 2.5 years ago and shortly after birth it was discovered he had craniosynostosis (fused skull) at 8 months he had major skull surgery to repair it. Also he had pyloricstenosis (kind of blockage in his stomach) and had surgery at 9 weeks to fix that.

We have been told he has development delay as he didnt crawl til 13 months, walked at 21 months and still at 2.5 years only has about 20 words.

I am currently 10 weeks pregnant and my consultant wants us to have genetic counselling, but I am terrified of the results and to be honest they have scared me into thinking there is something going to be wrong with this baby. We went to see the genetic counsellor and she said that he had big-ish ears and small chubby hands and that they are going to test for fragile x syndrome amongst other things. I made the mistake of googling (I know!) and now im so scared.

I dont really have anyone to confide in as everyone thinks I just exagerrate my sons delays and that he will get there in the end and plus we havent announced my pregnancy yet so that would be hard to explain!

I'm you a year and a half ago. DS1 has a suspected genetic condition - we were told this a month after I became pregnant with DS2 until then we thought he was just slow and would catch up eventually. DH and I had long discussions about what to do. We decided to do nothing - we knew we wouldn't terminate the pregnancy if anything did show up and as nothing could be done if there was a problem we felt there was no benefit in knowing.

As it is they still haven't been able to dx DS1 so there wouldn't have been any tests we could actually have had. It's so hard and I really feel for you I know what you are going through - the sec

Oops posted too soon. The second pregnancy was difficult but once the decision was made we tried just to get on with it and enjoy it!

What a shame you have this shadow over your pregnancy.

Do you know when you'll get your DS's test results?

The two things are too mixed together for you to enjoy this pregnancy just now but hopefully you get some answers soon and some scans and you'll feel more reassured.

I'm very sure you haven't exaggerated anything but sadly lots of people think it's useful and reassuring to hear that they can think of another child somewhere who was similar in some way.

Could the genetic counsellor point you towards any support groups? You've a lot to think about and some face to face conversations would probably help. If not then keep coming back here and venting, you'll be very welcome.

I'm just re-reading your post. Our situations are really so similar. We hadn't told anyone about DS other than immediate family. When I voiced concerns to anyone about DS's development I got a lot of - oh he'll be fine, boys are slow, I know a boy who didn't do xyz until blah blah!

Fragile X was the first test DS1 had, the results took nearly three months to come back I'd have been 4 months by then. Has the geneticist given you any idea what they would be testing for and what if any the risk to the baby would be?

1980, that is so true, we dont tell anyone about my son because I have actually lost friends over him now cos they were fed up of me keep going on about him not walking, talking etc, and they just kept saying ah my friends next door neighbour was slow at walking, and my fav so far - einstein didnt walk/talk until 3!

They arent testing me they want to test my son and they have put an urgent on the form saying im pregnant so need the results back asap.

What is really p*ing me off though is not one person suggested these tests before I came pregnant.

Before you became pregnant were they concerned about his delays, doing any investigations or was he having any therapy? What caused the cranio & stomach conditions? Has anyone suggested that the three are linked and are symptoms of one condition?

What happened with my DS was - his delays were obvious to me at 6 months, it took another 5 months and a private Paed apt before we got to see a developmental paed. (by that time I was already pregnant - it never once occurred to me it would be a genetic problem) Paed said we'll start with the most obvious causes of developmental delay - muscular dystrophy, cerebral palsy and fragile X. I asked if any of these were inherited and was told yes. Cue a lot of panic and googling but all those tests were clear. Don't forget genetic doesn't have to mean inherited. As time went on - genetic pointers became more obvious with my DS - wide spaced teeth, facial dysmorphia etc. A year on and we still don't know the cause, DS is going into a research programme that will take 4-5 years with still quite a small chance of getting a diagnosis.

But what we do have is a 7 month old who is meeting his milestones and a geneticist who tells us that having another child is possibly the best thing we could've done and it will only help bring DS1 on. (which it has)

My advice would be try to relax, and don't google - said by someone who stressed themselves to the hilt and researched constantly but it did absolutely no good!

As for your friends - they weren't worth having in the first place! Use SN MN, there are plenty of people on here who can help and listen. There's a chromosome/genetic testing support thread you should post on there too!

He was seen by a specialist who did a griffiths mental scales development test and then said oh he has global development delay get him into a nursery asap (which still hasnt happened cos we are waiting for a space for him). She didnt mention at all about getting any genetic tests done.

I received a letter today about what was said at the appointment and it says that my son has slightly down slanted eyes (which I have NEVER noticed before!) ears mildly low set, cupped and over folded. And fat chubby fingers with flat nails. Also says that he had mild features associated with slow development which may suggest he has a difference in his chromosone pattern.

However it does say that he had a normal chromosonal study when he was younger because of the problems to do with his head and that came back normal but as he is older now he can have more in-depth testing.

We also had a daughter 3.5 years ago and she died at birth due to placenta abruption but im not aware of any problems with her as we had a post mortem and it came back that all her problems were due to the abruption.

Really sorry for the essay!

Hi - I sent you a PM.