Even if you are not a geneticist please read this thread...

[merlot]

HERE

We now have a dx for ds2. It has been a long road and I am relieved to find that the `search' if over. It brings with it mixed feelings though and I have asked for some advice from the mumsnet geneticists...but I would really, really welcome views of anyone else who wishes to comment on my situation.

If you are mum to a special needs child...what would you do? Should I let these feelings go or do I need to follow them up? I do so appreciate all your advice. Thank you

Well just replied with my rusty cytogenetics.

As a mum of a child with SN I would say you need to let it go. Don't expect to be able to immediately though! Give yourself time, but let it go, otherwise it can consume you. The only reaosn I;d say to follow it up was if you wanted another child and needed to know more about how everything had happened with ds2, otherwise let it go.

Jimjams - I think you are right. I know that I will have to let it go at some stage. I havent got the energy to waste on this long term and am certainly not up for a `crusade'.

However, whilst we dont want any more children, we do need to understand this for the sake of ds1 who might also be carrying a benign inversion (like his father)

Thanks again for replying

Yes I can see that about ds1. Could you ask for another genetecist appointment to go through everything that has happened and talk about the impact on ds1.

Yes, we are already in the throes of that. although havent plucked up the courage to ask them what they feel about original counselling - felt it was a bit unethical and that I wouldnt get a proper answer...but with Tamums comments on the other thread I now feel that I need to ask some awkward questions

One of Dh's sisters also has learning difficulties and she is now being tested as they feel her special needs may be linked with this same genetic change. If she has a similar change to ds2 then dh's parents will be tested and hopefully we should have a clear and thorough picture for ds1

It does all sound linked doesn't it. Oh how horrible for you - it sounds as if things "could" have been picked up, but I'm not sure if they "should" have been iyswim. It's almost as if the stupid size of the health care system has got in the way of clear communication.

I'm off to bed now- hope your mind isn't turning over too much.

Night Jimjams - will try to stop brain from racing now too and also go to bed

Tamum has come up with something very interesting about autism and the link with the duplication that ds2 has. You might want to have a little look at that? Its on the other thread.

have replied on your other thread.

Merlot, nothing useful to add on the tech front, but your head must be spinning.
I can understand the need to get your house in order for peace of mind for ds1.
I don't know what to say re who is responsible for not making King's fully aware of the situation. I keep folders for all info for ds3 and ds4 but I now only work on them for a certain amount of time, I then close them and just go back to my boys and being a family.
Lots of hugs and I do hope the hospital, GP are forthcoming with info.

Merlot

I'm not sure I really understand the discussion on your other thread, but wanted to reply anyway just to say I was thinking of you.

xx

Again, thanks everyone. I appreciate everyone's views and it doesnt matter if the complexity of the genetic stuff is too detailed.

I know that all you parents of children with special needs will understand the inner turmoil that I am currently in - the onehand being utterly in love with little ds2 and on the other hand the whole wound of grieving for a lifestyle that could have been has been reopened with these latest revelations

Merlot I'm glad you finally got some answers about the reason for ds' SN but also that you seem to have been badly let down somewhere along the way.

I honestly don't know what I would do in your position. I think I would want the apology and some kind of reassurance (if possible) that other families won't have to go through what you have, ie being let down by poor communication and money-saving tactics.

I hope that you get all the help and support you need to work your way through this. xxx

you know merlot I am sorry the old wound has been opened but I think that as we progress through life and take each new stage with our child who has sn that wound gets opened time and time again. I know with each new step dd1 takes I am reminded of what could have been..... and it makes me a little sad - I have a cry - both sad and happy - and then let myself feel sad/cross/ angry etc - then give myself a stern talking to and tell myself to suck it up - and get on with it. Please don't think I am telling you to suck it up and get on with it - grieve, cry, get angry - climb a hill and scream at the sky. Whatever works for you. I am sorry that you are facing this again and hope that as you get the answers or understnading that you seek - you will feel more positive with each day that comes and that ache will be dull rather than sharp as you focus on your gorgeous ds.

Again - tell me I am speaking bollox and ignore if you wish.... just wanted to let you know I feel for you and can appreciate how raw things must seem at the moment.

Hi Merlot.

Sorry you have been going through a tough time at the moment.
I am responding to this thread as my DS with SN has had all tests under the sun and we have now been referred to see Dr Metcalfe who is the senior genetisist at St Mary's in Manchester.
I am worried about the tests that they will carry out and after seeing some of the other post, i wanted to ask if my self and my partner would have to have bloods taken and tests run on us as, as of yet, we have had no information what so ever and i am really panicking about the outcome of his tests as they have suggested a few genetic conditions just by seeing him!!!!

Sorry to ask these questions, but appears that have you have been where my family are heading, and i really have started to think that i would rather that they didn't test dylan for anything incase it is something really bad.

Butty.xxx

Oh dear Merlot, I haven't read all of the other thread, just your first post as I don't think I am up to it interlectuerly! I've read somewhere that there may be evidence of a higher problems at birth for children with ASD and I've often wondered about DS as his birth wasn't great.... but then I remember the rest of my family
I think you've obviously got to see it all through for your other child and I think you need to talk about it with someone and, as Jimjams says, let it go. That's not possble now obviously and you are going to feel shit for some time. What sort of counselling (not genetic obv) can you get?
Everyone on here knows that if I could I would remove DS's SN in a heartbeat, I'd love to know him without them and for life to be less complicated xxxxxx

Hi again everyone.

Thanks for all your kind words.

Butty, you must be shell shocked and I very much understand your concern about genetic testing opening up a Pandora's Box. For me, DH's sister has learning difficulties and although the CVS test came back negative - from very early on I suspected that things werent right.
I HAVE to follow up the genetic route for the sake of ds1, but also it may help us understand ds2 a little more and get the appropriate help for him.

Is your ds your only child? Do you plan to have more? If he isnt and you want more children, I think you have to be brave and do whatever genetic testing is necessary. If the answer is yes to the first question and no to the second - then maybe you could question the need for genetic testing. However, burying heads in the sand might only help take the problem away momentarily, but it wont really stop the all consuming underlying worries. Confronting things head on might give a few unpleasant answers but for me information is power. The more you `understand' your child and his condition the more you can help him. Do you agree?

I send you good luck and all the very best and hope that you only get the very best of news

Eidsvold - dont be silly, you are not talking rubbish. I know exactly where you are coming from and do understand the rollercoaster ride we are all on. I think the old scars are going to be opened up a great many more times before my life is over The only positive thing with all this is that I now know that Ds2's special needs are what make him him. I cant wish away his special needs, because he couldnt exist without them (like your own dd1, Eidsvold) iykwim.

Coppertop and Davros - I will need to let this go, I know. However, as you say, Coppertop I do feel that I need to challenge the system on this for the sake of others that follow in my footsteps.

Interesting, I don't think my DS's SNs make him "him", I think they rather prevent/spoil it....

For me its clear - ds2 couldnt be here without his sn's because of his genetic make-up. My guess is, that if your child is tragically struck down with a terrible illness, like meningitis or your child has CP from a terrible birth, then I imagine that you might sometimes wonder what your child would be like without his difficulties. However, ds2 just couldnt be here without his could he? I might have had another child, but it would be another child, like my ds1 maybe - but not ds2 without the difficulties. Very deep, and very waffly, but I hope that explains how I feel a bit better?

WE are also in something of a situation like Butty,we have all the tests but nothing has been shown up,we have now been referred to the paediatric genetic unit at addenbrokes.Most of the time I manage to put it to the back of my mind but then it pops up again
UI don't alaways want to persue it but dh feels we should for ds2 's sake.
difficult one

Its very tough Philly, but I hope you get the answers you need

I don't have a SN child nor am I this sort of geneticist (thank goddess) but I am an NHS insider and I have personally experienced institutional negligence in NHS hospitals. I think that, if you ARE going to investigate how this happened for your own sake, that if you feel strong enough you should also make a formal written complaint, regardless of whether you want to pursue compensation or not.

The only way the service is going to improve is if mistakes are COMPLAINED about-the service should have urgently got hold of the exact details of DH's abnormality for comparison, from wherever the original test was done, no question. GPs IME do not know nuts about genetics at this level of detail.

I complained about the appalling treatment I received at the birth of my first child, in person and in writing, and am satisfied it was investigated by an outside person, put in records, and an apology was rendered to me in writing. It can't make it up to me, or change the past or the facts, but I know that it went down on their records, and they can't continue to be as complacent anymore.

Hi Merlot,

Thanks for your message. I do have another child, chloe who is 5 years old. She was born with complications and had major surgery at "St Mary's" which is another blimp in my mode of thinking!!! She presents with severe behavioural problems and those on here that know, just to let you know she is getting better!!!!!!That is with the aid of a behaviour therapy team and lots of bribes and rewards. Ignoring bad behaviour and the violence is still an issue!!!

Dylan was 3 on NY's Day. His birth was difficult, although the hospital said it was all normal, which is total bullsh**!!!!! I wanted to push for over an hour and they said you arn't having contractions, only when i was screaming that there was a sharp stabbing pain in my back did they get a fetal heart moniter to place on his head, and then said "oh, you'd better push as 9CM's dialated" Total idiots!!!!

I noticed he was very slow from the beginning and raised concerns when he was 1 with the health visitor as he was unable to sit unsupported and his crawling presented great difficulity which meant him banging his head and face all the time!!! He made no attempts to pull to stand.

Anyway, to cut a long story short, she said he was lazy and a big boy, so i went away feeling numb, but also thinking she knows what she's onnabout!!! I was so wrong!!!!

Eventually at 14 months when he hadn't really improved, i took him to the doc who instantly arranged an urgent appointment with pead at the hos.

From then on, we had loads of appointments etc with the regs, physio, ot, ed, neuroligist etc....

At 18months he was dx'd with low tone CP, GDD and Hypotonia. Then after brain scans, changed their minds to Moderate severe GDD and hypo.

He attends the special schools nursery department and will be starting full time in Sep for pre school. he has a statement of which he has had since 2yrs.4mnths.

They have done every test and found nothing including MMR, CT, and all the other stuff.
We are still awaiting his skin biopsy results, but because of some features, which at first they said was mosaicism DS for sure, they want to do the scenario of genetics!!!!!!

They have also told me, that i may never get and answer for his what are now more apparant disabilities as he is getting older!!!!!!!!

Sorry to ramble, you now sort of know my story, and the health pro's dont ever seem to make things easy, do they????

Butty.xxx

Hi Merlot - just really wanted to say I am thinking of you. This must all be very raw right now and I would guess, probably pretty all-consuming. At least though now you can go ahead and get the answers you want for your ds1, and hopefully, in time, it will give you more 'peace' over ds2.

I totally understand what you said about your ds2 not being 'him' without his SN. I feel that about dd really. When I found out that her problem was genetic rather than 'caused' I did feel some relief in a way that this was just who she was and how she was 'meant' to be (and mean that in a biological rather than religious way). I can also see how that might be different for davros in her situation.

In terms of whether you should let things go... tough one, and I guess one that you will know the answer to yourself at some point. At the moment, I imagine it would be very hard for you to let it go, especially as it does have implications for ds1. But you know, you love your ds2 and if there comes a point when you feel that fighting for any kind of apology/recognition/compensation becomes more a quest in itself than anything that will actually benefit your family then I am sure you will know that and know it is time to let it lie.

Hi, glad you can empathise with my `its what makes him him comments' and Butty thanks for telling me your story - we had also been told that we might not get a dx too either though they suspected it was probably genetic..then out of the blue....we have this. So I hope you do get a dx eventually because I think in the longer term it is helpful - it stops that permanent I wonder if?? stuff, I guess. Look forward to getting to know you more on here Butty This place was my lifesaver 18 months ago...so I do feel that I am gradually coming to terms with things, because I am in a much better place now that I was then.

Thank everyone else for your advice and views on here - it has been much appreciated and as much as anything its been good for me to `get things off my chest'.

Also, I cannot help but think, if there has been a degree of negligence - it has resulted in me having a lovely little boy - whose needs may be challenging, but who brings sunshine as well as rain iykwim. There are others out there where medical negligence has meant actual loss of a family member and I cannot begin to contemplate how they must feel

Merlot x