Genetics testing - any experiences on the nhs?

[2boysnamedR]

Ds 2 (6) and ds 3 (23 months) both have sn and dyspraxia. Went to see the neuro disability pead today who gave us paperwork for the bloods and genetics.

When I handed it to the nurse it only asked for fragile x. I told the nurse as baby is not yet two couldn't he have a more comprehensive genetics screen as I know dyspraxic kids who have rare deletions. I don't want to have bloods drawn twice for fragile x then a full screen at a later date.

The nurse said she will ask the pead for me. So has anyone had a full genetics screen on nhs or am I asking for to much? I didn't ask for the screen it was offered to us but I don't see the point in only looking for fragile x?

I asked if they could draw a vial and I pay for private screening but my hospital won't draw bloods for private tests.

Don't worry bluebird I'm not offended at all. I don't really hope for anything any more. Except to wake up and none of this to be true.

The pead said they might find a problem which means nothing now, but might in a few years down the road. She also said they can't keep the DNA for a long period. I guess there is some ethical reason you wouldn't wont your blood on file indefiantly.

Thankyou GeneticsBunny. The head part of me finds all this fascinating, soI sit in appointments with ds's geneticist, thinking,'wow this is interesting' and asking lots of questions. Whilst the heart part of me is panicking like crazy about the effect this all has on ds. I bought a couple of books on kindle about it all, and write questions to ask her or our genetics nurse, when we see her (they must hate us!)

2boys - ds's bloods were taken when he was a year old, and they are still using his DNA samples now for the studies he is in. Dh and I had to spit in a tube for the DDD study and sign lots of forms about the ethics of what happens to our DNA, and what we want to have done with any info they find. They are pretty good about all that side of it.

If you are referred to a geneticist, you should see a genetics nurse, and they are great for asking lots of questions. Ours came round to the house and was lovely, and we email her if we have any questions etc.

DD had microarray testing and results took many weeks to come but, but in her case did show a problem that wouldn't have been picked up without this technique. Hers was done on the NHS after I requested genetic testing following her ASD diagnosis, but also because she has some soft markers for genetic issues such as curled little fingers.

We are in the middle of this. Ds has two diagnosed physical health problems and little speech at 2.5yr. Had a fish test whilst pregnant at 34 weeks for 22 q deletions and the main trisomies.

We have had a physical examination and are currently waiting for blood tests to be done. I want to ttc but won't do this until I know if DS has an inherited condition.

So I'm in no mans land

I want another baby but I'm not letting sn stop me. I am (ahem) above adverage intelligence ( but with dyslexia so bear with my spelling!). Dh is not academic but has a good job. I come from a academic family. My eldest boy is clever. Either my DNA with dh is not a good match or its just bad luck. I can't shake my urge for another kid and my eyes are truely open to it having sn

Good luck with your dessision, it's never easy is it?

DH and I both have high intelligence 2boys, but we still have DS2 with SN and severe learning difficulties. DS1 has managed to have SN and high intelligence !!

I do hold that DH and I have a pretty unfortunate combination of genes, btw. ASD and related disorders do run right through my family - we can trace strong traits back to my grandfather. The boys' only cousin on DH's side is selectively mute and FIL set in his ways to an extreme level. The boys have the most severe presentation of anything that we can trace back, though, even compared with my brother and uncle.

I have mused over whether it's worth asking for an array to be done for us all, but never asked, knowing that there's nothing that we would gain from it other than satisfying my curiosity.

I think for me it depends on if they can identify a genetic problem and what the range is for health issues and sn.

I went into having a late amino with the confidence that if we had a positive result we would cope. DS is happy and confident and a good quality o life at the moment.

I really don't wanting offend anyone but if it is inherited then what the worst case. If I was to get pregnant I would carry on as DH is keen and I know I would love the baby in any circumstance.

I know how much happiness and joy DS gives us as a family but I'm not sure it would be fair to DS to have a another I till we know more about DS development as I'm leaning toward him having SN in my opinion.

When I go think about having a second my face looks permanently like this . Although when DS son uses his unique I'm thirsty but can't talk so ill thrown my cup at to you I do go

I'm just hijacking this thread now and ranting sorry

Hijack away! Ouryve I have a high iq so not nessasarly sure sure it follows I'm intelligent lol!

The more I think about it the more I swear my mum is autistic. The problem is that I don't know if she was always like this or if it just a product of a series of traumatic events in her life.

I don't know my left from right most days and was ambidextrous until I was forced to use my right hand at school. I was as dumb as they came when I started school. Bottom of the class at everything, but that changed at secondary school. I love company but I have always been shy. I live to sit and be in company but never at the centre of things. I think I'm hyper mobile.

There is strong history there but no cousins or aunts etc have sn ( or did they as that generation don't talk these things - recently my aunt has told my mum that my 60 year old cousin has always been a "different" but no one will say in what way).

Plus back 70 years ago who needed to be academic? Hmm - thinking about it my cousin is a bit batty. She wore a teacosy on her head when we saw her at wedding....

Oh and mum recently told me I was late to sit and walk! So I think there's a strong link maybe but people just don't want to talk about as that means acknowledging the boys sn!

Oh yes, the boys and I are hypermobile, too - but that appears to come down through my dad, not my mum's family.

Lois- DS2 often hands me a cup for a drink. He couldn't find one, last week, so he handed me the bowl I'd just eaten some peanuts out of. I was too stupid to click, so he handed me a box of tissues. I grumbled and put it down, but he gave it straight back to me and led me to the kitchen. It was only then that I twigged what he was after! I've been quite furiously trying to teach him the makaton sign for drink, today. And he seems to have got it. No idea how long that will persist for, though. He has the exact same problems with signs as speech - learns, then it deteriorates, then he stops using it.

I was a late talker, btw - and selectively mute for a few years after starting. Mum was told not to worry, I was just probably "backward".

Outyve DS does similar learns a word then he doesn't say it again for ages. He did say uice for juice the other day. His main trick is to bring any item he likes or what he wants on or to drink etc and says ere u r. I don't know anyone who speaks like that

He is just not interested in makaton at all. Although he does 'sing' in tune making very similar noises to the words but will not actually say them

DS2 is very similar, lois. SALT agrees that he has oral dyspraxia in addition to the communication issues arising from ASD. Quite often, he's obviously repeating something he's heard on TV, but all the consonants are b, so "alphablocks is ababor, Bob the Builder is Bob a bilber and so on. Then he has days when I don't catch him making any attempts to speak, whatsoever.

He's finally doing well with PECS, at school, but it's harder to do at home because his brother sabotages any attempt I make to have cards available to him. I'm thinking he would do well with an AAC device of some sort.

I'm convinced we have a genetic issue .dd 1 has one father and is nt , ds and dd2 have another father and have autism and hypermobility .my family seems to have a lot of aspergers traits and dp has undiagnosed ADHD and has agoraphobia and depression

Ouryve can I ask how old your son is? We are just waiting for speech therapy at the moment. If we can afford it thinking private sessions or group sessions.

We had an array and some fish tests on the nhs via a geneticist and paediatrician . My son has some unseen duplications which present as global delay . I had a cvs in my pregnancy and was told ds was fine . I was naive to think as long as he had all relevant chromosomes he was fine !!! I have only learnt since he was born that one one deletion / mutation on a gene can be worse .

I consider myself to be of average cognitive ability. I have three children, two of whom have SN. I think this genetics testing is incredibly fascinating but also very scary. I have just had genetics counselling and testing for cancer genes as I am in a high risk family ( 3 of my sibs diagnosed in their late forties/ early fifties) and the dr was lovely. However it is very confusing and scary and I think that there should be solid counselling alongside any genetic testing.

I agree , both and and dh are a liver average intelligence ( more him than me ) and dd is too .. My son has sn.. It's all pretty random I think.. I had testing for brca 1 and 2 and don't have it although all the women in my family have had breast cancer 6 and counting .. Just bad luck .

The breast cancer gene is scary as its waiting for something bad to happen. My dad had a brain hemorrhage and I had a MRI for anerisium. Partly I didn't want to know as there is no treatment ( dependant where it is etc). You just wait for it to go and pray they can save you which is very rare as a lot of people die immediately. Of course if you don't know you only have a niggling worry where as if they find it every day could be your last

Scarily my dad did too before he died in his late fifties 2boys those MRI scans are vile aren't they I hate lying in the machine why they're done!
Bish, I have lots of female and male extended relatives too who have had cancer including a niece in her thirties. I think it's right that there's luck involved.
I wonder of there could be gene mutations linking sn with the mutations for other conditions like cancer? I'm certainly not clever enough to know maybe someone else will?

My little boys condition, tuberous sclerosis, is caused by a gene which controls cell growth. The symptoms are ccaused by little benign 'tumours' and the ones in his brain cause developmental delay so 2tired you are on the right track, some mutations can cause tumours which can in turn cause special needs. As far as I know adult cancers which are known to have genetic causes haven't been shown to be linked to developmental delay or special needs in children.

I think that probably as people are becoming more aware of genetic things the are noticing them more and it is looking like things are linked when they aren't. That is my guess anyway. Every person has lots of genetic mutations it is just that they are usually masked by a second working copy of the gene or don't cause a serious problem on their own.