I finally know why dd1 is disabled. It's because of me.

[Cappuccino]

I've just got back from a speech therapy appt

the lady said that small speech problems like mine (I have quite a nasal voice) are often down to a specific chromosome deletion; in others they can cause a full range of physical disabilities, like dd1

we were told four years ago after MRI scans that it was not inherited and it was okay to try for another child, that dd1's disability was a one-off for no particular reason. Looking back it was a good job we didn't know, otherwise deciding to try again would have been much more complex, and dd2 is the most amazing child in the world. She is not disabled.

I don't know why I am upset, but I am. I want to talk to dh but he is away on a course and I can only talk when he calls me

I'm just having a bit of a cry now

thank you; you wouldn't believe how great it is to be able to talk to people who understand either emotionally or on a more complex scientific level

unfortunately my mum took us to the appointment - though I'm getting better, I'm still quite crap physically in the afternoons, and it was a long way to drive

and though I love my mother deeply she has a habit of saying the oddest things to try and make it 'better', which usually involve her coming to some bizarre nonsensical conclusion backed up by nothing but rubbish. It didn't cheer me up. It made me want to open the car doors, and we were on the M6.

it is odd and lovely and special to be able to get such support from strangers

That's such a lovely post Cappuccino, and one that sums up the very heart of MN. I don't often ask for support because I basically have such an easy life, but when I did post (about my dad's dementia) it was incredily moving and just helped far more than I would ever have thought possible.

That is quite funny about the M6 though

Sounds like you haev the opposite to my Mum capp- she doesn't try to make it better; her repsonse would be 'well you did marry an odd man, with his genes and yours what would you expect.....'

Where does she think my genes come from, Levi's?

Oh, Capp

If (and it's still an if) this is the case, it's not your fault.

And remember, the SALT may have known as much about genetic issues as many HVs know about breastfeeding - just because she's a HCP doesn't mean she's right. And, as Yurt says, she had no business saying anything without being able to offer you some support.

I'm so sorry you're feeling low - it won't help to be told again it's not your fault, probably, but really, it's not.

Your DH sounds lovely

Good God,I'm a salt and salts have no place in going around diagnosing chromosomal conditions. How very very odd and unprofessional it all sounds.

Oh capp - so sorry that the appointment went the way it did. However, I agree with yurt et al that a SALT is not in a position to be making a genetic diagnosis (no offence moondog ).

Hope that you can get an appointment to see a geneticist soon, oh and your dh sounds just lovely

Perhaps now I am thinking clearer I should clarify that she wasn't a regular SALT - it was a specialist appt at a department for palate deformations

and techically I was her patient too since I was initially the one referred; I had decided not to go ahead with surgery but asked if they could see the dds because of comments made about dd1's nasal intonation by another SALT who I trust very much

Hi

I am not qualified in any genetics related field so I can't say for definite but I have had an amateur's interest in genetics for quite a long time - long before I had an SN child. I have never heard or read that a chromosome deletion could act in this way. Perhaps it is more likely that those doing the MRI scan were better informed when they said your first daughter's disability was a one off.

Sorry to hear about this

Dh's genetic condition arose as a spontaneous genetic mutation, and he is now 39 years old.

Back when he was diagnosed when he was a teenager, they did not explain this properly to his Mum, and so she blamed herself for somehow "causing" it whilst she was pregnant. Of course, there is no way that this could have happened.

Myself and dh have got 2 dc's. Our eldest is healthy, the youngest has inherited the genetic condition. Normally with this particular condition, people that have inherited it don't tend to have such severe problems, which is partly why we chose to have children. Unfortunately, this isn't the case with dd. I have times when I am very worried about what I will say to her when she is older, as myself and dh HAVE caused her to have this condition. We had 50/50 odds of any child of ours inheriting this.

Genetic conditions can be strange things sometimes. If one genetic defect is there, it can increase the chances of another fault appearing. Maybe this is what your SALT was referring to?

Capp:
Have got your t-shirt. I have been told by a genetics lady that any children of mine will have 1 in 2 chance of having a speech (delay).Well out of my 3, 2 have got speech disorders and the third his speech is classed as delay at the moment. There's other little things in the pot as well like ASD, ADHD.

My three are happy and contented and that is what counts at the moment.

Have to admit it hit me quite hard when I realised the genetic nature of my dc's condition. Not because I feel guilty about having them- that's past praying for! - but because I realise that they will have to make a decision about having children of their own, based on how they see their disability. So it's one more aspect of life that will be made harder for them. As theirs is a condition that involves pain and a risk of fairly bad disability, and is often associated with depression and anxiety disorders, I imagine this is something they will have to discuss with any future partner.

Just a quick google search brought up about seven or eight different deletions associated with nasal voice and huge ranges of affect. That in itself makes it obvious that any diagnosis is going to be mega complicated.

No-one can surely take one snapshot of your family and suggest something that would need extensive genetic testing to prove just in a passing comment!

Having a 2nd with asd pretty much confirmed the genetic thing for us you know- but after a lot of thinking about how much we fit into the ASD spectrum ourselves (I reckon i could push for an AS dx for myself if I was so inclined and Dh isn't that far off on many things) I think it actually was a good thing- reinforced the bond between the kids and I, especially iportant with ds1 who is really challnging, the more I can see of myself in him (lots- he's even the spit of me) then the more I can try and understand where his behaviours come from. Not always- sometime sI find things doubly incomprehensible becuase of this- but often enough to be positive.

I have a 4yr old ds with di georges syndrome, or otherwise known as velo cardio facial syndrome. He has a palate problem and a very nasal tone to his voice. He also has a severe speech delay which is very slowly improving with speech therapy.
He was only diagnosed shortly before Christmas after 4 years of mystery illnesses and glue ear that did not respond to grommets etc. His is a non inherited condition (myslef and dh have both been tested) but although it is not widely heard of it is one of the most common chromosomal abnormalities after downs syndrome!
We are lucky with our ds because he has only some of the associated conditions, and although we found the diagnosis extremely upsetting it is a relief to get one!
We are now in a better position to insist upon more intense speech therapy and for his medical care to be more closely monitored.
When speaking with his consultant she seemed very confident that by the time he goes on to have children of his own that science will have progressed enough that decisions can be made to prevent it being passed on to his children.

cazcaz - not sure if you've heard of them but thought I'd post this link for you MaxAppeal - DiGeorge support group

Thanks for the link, we have heard of them, but probably now need to become involved with them. Only this last week that I have finally felt able to deal with it all, and to not be constantly looking at the negative of what he can't do, but what he can. thanks again.