ASD & Genetic Testing - Tell the NAS what you think

[Davros]

I didn't put this on the recent thread about antenatal testing as I am feeling a bit bad about another thread being hijacked into ASD!! I was a bit naughty as I rather ignored the fact that the thread was originally about DS, everyone must get fed up with us ASDers!! I have also been thinking about that anyway and that, although we share many experiences and feelings, the situation with testing is quite different for, say, DS/ASD. Anyway, read on:

In the latest issue of Communication, the NAS's mag, there is a big article about genetic testing and they want members' views and comments about the issue, email [email protected]
By coincidence there is a letter from a parent bemoaning the fact that the magazine specifically (but the NAS and AUtism movement in general if you ask me) is becoming dominated by people with AS/HFA and their parents. I really have noticed this and a lot of assumptions are being made about the "rights" of people with disabilities to just be as they are. That is fine and dandy if you can look after yourself and express yourself, but those who can't have recently been rather marginalised and those who speak for them have even become somewhat demonised as being "negative"!!! I will write in myself when I get a chance to read the article first!!

I have the most total and utter respect for Davros's point of view but based on my own personal experience so far I would be very anti-testing.

Just in the same way as I am horrified at the idea that people terminate for talipes (which DS2 was born with) I am horrified that people might one day terminate for what my DS1 has.

DS3 is shaping up to be more severely autistic, although it is very early days yet. So may be when he is also twelve and we have lived through years of challenging behaviour I may feel differently.

DS3 is certainly an easier three-year old to parent than DS1 was at the same age.

Thanks Davros (and Peachey). I hope you know that wasn't coming from a remotely judgemental standpoint, and what you say about just knowing the sex clarifies things a lot. I know the issue of not being able to just keep on testing comes up with Huntington's too- it may be a straightforward decision the first time, a bit harder the second, maybe, and what if it happens again? No easy answers really.

Sorry Dinosaur, cross posted

As Peachy and Dino say, being able to know that a child is more towards the AS end of the spectrum does not necessarily make it more "severe" iyswim. As I said on that other thread, the other child I know that comes anywhere near my DS in terms of challenging behaviour, leading to being unable to enjoy his own life never mind the affect on his family, is as "high functioning" of all the children I know with no LD. I know plenty of so-called severely autistic children who have manageable behaviour (although it may often be strange!), are quite passive, can go on holidays easily etc. My friend whose son has AS (above) has been a virtual prisoner in her home at times, as have we. I still say that, apart from how WE feel, we must consider how our children will feel when they want to have children themselves.

My personal, honestb feeling is that these tests shopuld be available- but to those who have a need, and with much counselling. When I was nursing we ahd some clients who were young adult twins with the most severe ASD, the aprents had no more children as the twins were too much for them alone (they ahd to be placed into separate homes for safety reasons). I know she'd have loved to hve more children, and she was a most excellent Mum and did all she could for those boys.

I will be relieved if the scan shows this one is a girl as it will reduce the chances. But I know that with 3 boys the odds are low. I also believe I may be able to modify things with cf/gf diet from the start etc, I don't think ASD is a gurantee iyswim.

I agree about ASD not being a guarantee. I truly believe that there was a point with DD where she could have "tipped over" into ASD or AS but didn't, maybe because we were careful with immunisations, maybe not, who knows? I think Gess has the same feelings about her DS2 and she was also very careful and with diet too. My DS, however, was clearly ASD from birth, I describe his early babyhood as "not being ready to be born"!! I realise now that he probably had a massive sensory overload when he came into the world apart from anything else.

Sorry, meant Gess's DS3

DS1 was the opposite- from the minute he was born (induced on what i beleive was the day after his due date, they said was 38 weeks)he was totally independent, always ahs been, walked early hit every milestone early. One of the things he seemed to hate was breastfeeding- and he lost so much weight (he was only 5lb 5oz to start with) that I think his allergies (he's been dairy free since long before I heard of CF / GF) may have triggered then. Whereas ds3 was always just very relaxed and laid back- too much so- it was only when he lost speech just before 3 that we cotoned on something wasn't right. I bumped into his first Cm actually yesterday, hadn't seen her for 2 years, and when we told her she just said 'yes'. She obviously knew!. But so many people came out with crap (HV: 'I now he iosn't fdoing all the things I need to test for but as a professional I can tell he would if he wanted to- ??? ) that it took us far too long to realise.

The thing is, is that I'm reminded of the situation with down syndrome babies. When a test was found to establish whether a pregnant woman was carrying a child with down syndrome the rates of ternination shot up and now in many countries 90% of babies with down sydrome are aborted. Because people have this outdated idea that their child will never learn, will always suffer and whilst those parents who have gone on to give birth know that this is not the case, may other parents do not. They feel pushed into a devastating decision.
What's needed isn't genetic testing, it's proper resources and proper care and proper training. Knowing that because a child processes things in a different way doesn't mean they're incapable of learning, or that they're incapable of love because they don't hug or say "I love you". What's needed is to give people on the spectrum (and as you know people on the spectrum have high and low skills in different areas, so they may be low functioning in speech, but high functioning in fine motor control, for example) the respect, the help and the self esteem they need and to never presume that a seeming inability to understand their rights means not giving them their rights.
Someone pointed out on another message boad that everyone needs help. A person who is not on the spectrum still needs someone to build roads so they can travel, farms and factories to grow and make food, electricians and plumbers and engineers to ensure all utilities are working. Yet no-one says that those things should have to be fought for, or that these things can be denied a person if they don't appear to have the cognitive abilities to understand them. So why should people on the spectrum,and parents/carers of some people on the spectrum, be made to think that they are not entitled to things that will help them, that will make life easier for them?

I understand where you're coming from bullet, I don't think as a test it should be available universally, however if a family already ahs a child with ASD they will have a deeper understanding than anyone of theeir own ability to cope, and what ASD means to them. I know that with ds1, I manged to attend every appointment, the therapy was never broken, etc- with ds3 I can't offer wuite the commitment and I regularly f things up and miss apoointments because I simply can't keep up!.

One of my biggest bug bears is the so-called inevitable link between testinga nd termination- we had testing with ds3 because we just wanted to eb prepared- we felt if we knew before the birth we could deal better after.We ahd high risk results and decided to leave it there, with the opportunity for us to learn, to absorb that information into birth decisions (eg would a home birth be the best idea after all), et. It was the medical assumption that we would follow with amnio and a termination that put pressure on us, far more than the risk factor, so much so that we are opting out of testing this time. However, if the high risk result ahd been followed simply with the chance to have counselling etc, then it would have been an extremely useful exercise.

If this baby has ASD then so be it, another one for the collection . however if atest meant we could prepare, accept, maybe (and this would be huge) skip what will be a long 3 year wait to see if baby follows the same regressive path as ds3- oh yes please! It would also mean not going on long waiting lists at 3 for interventions that 'well Mrs P, should have been done about 2 years ago'- what, before he regressed, you mean? . early intervention is a huge bonus to a childs life chances, regardless of their disability.

In our case we have had proper resources, care etc, its not that simple that all disability can be managed and completely accepted due to outside support, its much much deeper than that in our case. I know that DS can learn and is more than capable of loving and we have always respected and accepted him. But he cannot, and never will, be able to do many many basic things for himself and that is a fact, not an opinion. Although he may be higher functioning in some areas than we believe and it may be masked by areas of difficulty, there is no more way of knowing that than believing it not to be the case. He has had the best we could give him and we have fought for his rights tooth and nail, it doesn't make his long term future any brighter or certain and it hasn't meant that in the past his life has been happy, much to my despair. Many times he has been unable to "access his own life" for want of a better phrase due to Self-injury, Challenging Behaviour and other behaviours. I'm not expecting him to life our lives or some fantasy life, just his own life but that can be beyond him much of the time.
Maybe it should be the case though that more time and care should be taken to identify families at greater risk, something I also think should be done before children are immunised.

This is an open question.

Do you feel that if there were a genetic test for ASD children would be given access to help earlier/ faster/ with less emetional stress for the parents?

only read the first post- but how funny Davros I've just emailed you a mail from Donna Williams where she writes about the difference between autism and AS (she defines the difference as being between those who developed language before 5 and those who developed it afterwards). She uses language in the broadest sense, so someone who is verbal doesn't necessarily have langauge iyswim. I think you'll agree with what she says.

I'm not sure I'm allowed to reproduce it on here, but if anyone wants to read it just CAT me.

She basically says that autism is trendy now and there is a real need to distinguish culture (which is behaviours) from condition (which is sensory/cognitive). She says its not fair to apply culture to families of severely challenged kids who are living very much with condition.

As regards genetics, I have always assumed that ds2 and ds3 are very likely to have the gene 'for' autism, but that in our case it seems to be environmentally triggered. So have avoided potential triggers.

I think there are other families where autism itself is very much in the genes. Really do think there's 2 types.

Autism at birth vs born with immune system irregularities that make you very vulnerable to developing down an autistic pathway.

Think familiy histories give lots of hints as to which group someone is likely to belong.

I would like to know Gilly Baird's reasoning because it is at odds with other people's findings. TBH I think that the identification of the different subgroups is essential both to develop therapies that are individual (I'm sure for example that ds1 has the potential to type as he is so like many individuals who have remained non verbal but learned to type), and to establish risk factors etc.

Davros agree with that as well. And if you evber read anything written by people who are severely challenged by their autism (I recommend autism and the myth of the person alone) they talk about autism preventing them from being able to take part, from compulsions preventing them from doing something they want to do and so on. These are people who have degrees/can write books/ but can't walk down the street alone, and require 24 hour care. Who can't stop themselves touching stranger's hair, who still can't queue so can't access almost anything (never underestimate the difficulties that being unable to wait for 10 seconds creates). And they're the lucky ones who have found a way to communicate!

Davros do you think your ds recognises his problems accessing his own life? (I like that phrase). I've noticed that recently ds1 will often try to get me to stop him doing something compulsive (although I can still get punched ) . He also crams himself into inaccessible places when doing ABA table work and I think it's to help him cut down on jumping up and running away.

It's so true that it prevents them accessing their life. DS1 has a new love, walking. We did a Dartmoor walk a few days ago. I've bought him walking boots- he was in heaven, and then we had to go a certain way to go home, he wanted to go another way. I eventually arrived back at the car covered in bruises. HIs behaviour means there are so many things that he likes that he can't access. He likes computers, but he can't play computer games because pointless on/off compulsions take over. He has a favourite books- he's loved it- it's ripped into pieces (paper ripping compulsion). He likes swimming but can only go to the disabled session as he's too out of control for public ones. Not naughty- just compulsions.

Donna Williams helped me realise that these compulsions are not choices - he;s not choosing them, they;re actually ruining his life. This is what she said about them:

"NO, they will progressively worsen, they are addiction driven in this case and he has identified with and sided with them. They are voracious and will take over progressively more territory, taking the family with them... so no, this is not the place to look at this as 'culture'... stims, obsessive interests, sensory fascinations... these are 'culture'... but co-morbid mood, anxiety and compulsive disorders are 'condition'... you don't sit back and guilt yourself into celebrating these or they may eat up ds1's life piece by piece."
,

I completely identify with what you've said. I feel that DS often needs and sometimes wants us to tell him what to do, because he can't move on himself. We have also had great difficulty with his favourite things and they often cause more trouble than anything. THe things he likes the best seem to make him most anxious, I always think that he just gets overwhelmed with his own feelings of excitment/enjoyment. It usually settles down after a while (swimming is a great example) and we have to persevere and not give up too easily, but also recognise when something just aint going to work! Whether he really KNOWS that he is causing the problems in accessing his own life, I don't know. I think he knows and understands more than most people would suspect unless they know him well, but I don't really know how much insight he has on a day-to-day basis or whether he recognises patterns etc.
I have got your email and scanned DW's words of wisdom, it needs greater attention when I have time.

Ah yes we all that 'going over'. He had one computer programme for example that he loved and played really well, then within a few days he could no longer access it as it sent him 'over'. It happens with just about everything he enjoys, it is so frustrating. Sometimes we've found giving a rest of a few months helps, but other things he loses completely and just can't seem to access them anymore.

Donna Williams did tell me I had to take control of his compulsions for him, as he isn't capable of doing so. We have a part success I think, not 100%.

Oh and talking of DW, it;s jst occurred to me that she's written a poem about that 'going over', it really explained to me what it was all about. Here:

PINK STREET LIGHT

Pink Streetlight called, and it tickled me,

It had my body in ecstasy,

It wound its way through body and soul.

It blinded my mind, I had no thoughts at all.

It had triggered a switch inside of my head,

And nothing else mattered

But Pink Streetlight instead.

Emotions climbed up overwhelmingly high,

My hearing went ?vroom? and climbed up to the sky,

Manic oblivion with only one goal,

To merge with Pink Streetlight with body and soul.

My name being called, now a whole world away,

An irrelevant world, I had nothing to say.

But as bliss now climbed over its mountain top peak,

Tipped the balance to terror, the urge now to speak.

To say ?help its hurting?, now as senses screamed raw,

I?d had more than enough, still compulsion craved more.

My spirit came down in a terrified pile,

My face now wore terror in a grimace-like smile.

I looked inside my head for a sentence to say,

I found nothing but sawdust, all thought gone astray.

Of the familiar there was now not a trace,

No connection with name, body, words, touch or face.

Some hair came towards me, I leaned forward to smell.

The familiar returned and retrieved me from hell.

"In our case we have had proper resources, care etc, its not that simple that all disability can be managed and completely accepted due to outside support, its much much deeper than that in our case. I know that DS can learn and is more than capable of loving and we have always respected and accepted him. But he cannot, and never will, be able to do many many basic things for himself and that is a fact, not an opinion".

I do understand and that is why I believe help should come in the form of people who will do these basic things for him. He will probably always need help with things as you said and so that help should be provided for him.
There are some very negative and some very positive things about the spectrum. All I am saying is that research and training needs to be done to prevent the negative aspects (eg compulsions) whilst retaining the positives.

gess, thank you for posting that by DW

massive food for thought

gess, I remember listening to a father of a child with (IIRC) high functioning autism. The som was obcessed with Harry Potter, they got lodas of figues, books, pictures, but the boy would never watch the films. With time they unpicked that he was utterly terrified by Harry Potter, but utterly absorbed by it at the same time. The films were just too much for him to cope with.

the father said they were devistated to think that they had been terrifying their son, while thinking that they were being invoved with a real interest of his. So . So utterly bewildering to try to cope to terms with from an NT point of view

My private term for that is "fear/fixation" - eg I remember someone on here asking for opinions about a child who wanted to know everything there was about windmills but screamed when he saw one.

I don't think its fear as such in ds1's case. It's more like a sensory overload. It usually develops from something that he can do and deal with and likes, but then he starts to like it too much and as Davros said he becomes overwhelmed with sensation.

I remember when he was 18 months old and the olympics were on, he used to love the theme tune, but he would sort of go rigid and shake with it as it seemed too much for him. But it was definitely sensory. It was as if he 'felt' it too much, it was too emotional for him.

Now when he gets into that state he kneels up, goes puce, starts sweating and starts jerking backwards repeatedly so he sort of escapes it that way. He gets stuck in that though and needs help getting out of it.