A WWYD re ds (ASD) and unrelated genetic issue.

[NoHaudinMaWheest]

I am not sure how to tackle this. We have been looking at universities and I have realised that ds will be moving away from home in just over a year so I need to deal with this issue now rather than just sitting on it.

Dh has long-standing bowel and joint problems in which we have always known involved genetic factor. A few months ago he also developed the eye complication which can go along with this genetic factor and so was tested for the relevant gene. I think this wasn't available previously when he had severe bowel and joint problems. However it has been identified that he does have this gene.

Dd was tested a couple of years ago when she first developed joint and mobility problems and we know that she hasn't inherited it.

Ds doesn't have any relevant symptoms and hasn't been tested and probably wouldn't be unless he did develop symptoms. These often don't appear until the person is in their twenties or thirties so they easily still could.

Ds is 18 and as I said will probably move away from home in the next year or so to study. Usually I would not hesitate to inform him about the family genetic background so that he is aware and can pass on the information to his doctors if any relevant symptoms develop.

However ds has ASD and is generally pretty anxious so I am cautious about adding theoretical worries to his life. He is also recovering from really severe OCD in which the main obsessions and rituals were around toileting and faeces in particular. I am not sure what the knowledge that he could develop severe, difficult to control diaorrhea might do to his OCD.. These factors make me want to keep the information to myself for the moment at least unless he actually develops any problems.

But he is an adult and a 'competent' one too so maybe he is entitled to the information.

Any thoughts welcomed.

[2boysnamedR]

Hard question. My boys carry a genetic mutation linked to asd.

I have had all the kids tested now while young. The ethics of getting the tests was tricky and I had a degree of difficulty in getting my baby tested.

I really don't know what I would do in your shoes. One option might be to drip in tiny bits of info that dh condition is genetic. So ds works out there is a chance he may have inherited. But I think I'd be inclined not to.

What's the chances of being effected if he carries the gene?

In our case passing it on was 50;50 but the chances of being delayed and have ing the gene is totally unknown. Only three families in the world have been identified with this mutation

[NoHaudinMaWheest]

It is a genetic link rather than a clear cause I think so there are no firm figures about the likelihood of passing on the gene or of developing disease if you have it. It is also uncertain which if any of the associate conditions an individual will get or how severely. However other people in dh's wider family have the bowel condition so it is clearly there. So lots of unknowns which ds will find hard to handle as he likes certainty.

How old are your boys? Have you told them about the genetic link or do you plan to?

[2boysnamedR]

I have told my boys but the two who have the gene have development / neurological conditions so don't understand. The thinking behind that is it's a normal thing so when the impact sinks in ( having children ) it will be something they have grown up knowing. My eldest son doesn't carry the mutation so he knows and it doesn't effect his future.

Re legal implications and all that - I don't belive there is any law that says your dh has to tell anyone. We told potential carriers in our family who dismissed me ( I have a biology degree and studied genetics so it's no mistake). We told our Genetatist as dh brother is trying for a child. We was told to let it go, it's their choice to listen or not listen.

Do you have a Genetatist? Can they help advise? I know a few families who have aneurisms and some people refuse the MRI as it's untreatable. Been in that situation myself and there's no right or wrong. Deciding to want to know if I would die suddenly before 40 was a desision hard to make. I'm not sure if I'd had been better off not knowing it was a possibility.

I guess it depends on the odds. If it's defiantly a chance then it's hard. It's down to ethics and that's a hard area.

Would he want to be screened if he was told? If it was positive would it freak him out?

Genetics is a tricky thing. The science and technology is way more advanced than our knowledge of the human genome and at times I wish i never agreed to the genetic testing. It creates more questions with no answers. For us we are genuine pigs helping others further into the future.

[NoHaudinMaWheest]

Thanks for the input.

He is beginning to manage his own medical care but like other aspects of independence it is a work in progress. He is 18 and legally he is competent as he has no intellectual disability or mental health issue which affects his understanding. However the reality is that because of his ASD he does have problems with processing complex information and making decisions.
If it was only the ASD I would tell him and help him plan strategies. However the symptoms of the bowel problems touch on the real heart of his OCD. He is very much better but it hasn't entirely gone and I really don't want to risk trigger anything again. He was extremely ill - on the point of being sectioned at 13- at his worst.

I don't know whether he would do anything about the initial symptoms if they appeared. I would hope he would tell me but I can't guarantee that especially if he had to do it by phone/text. Bowel symptoms are most worrying as he might well panic and go into OCD mode. They are also most serious medically - even fatal if not properly treated.
The eye symptoms are very painful so I think he would do something about that fairly quickly. Joint problems are difficult especially as he is hypermobile and could well develop pain from that. He has a tendency to overreact to minor pain and under react to serious stuff too.

I don't know whether he could be tested routinely or if I would have to make a special case. It might freak him out if he was positive but if I introduce the subject at all, it would be easier if he knew for certain whether he had it or not. It would be one less level of uncertainty to deal with.

I do think as an adult he has a right to know and if he had no issues, I wouldn't hesitate.

We don't have a geneticist as it has all been done quite piecemeal. I could ask the psychologist who is overseeing his OCD treatment for some input. She is part of the specialist paediatric service but is still monitoring him as he was discharged as an inpatient just before his 18th birthday and they follow up for a year regardless of age.

[NoHaudinMaWheest]

Fermat it must be so difficult to live with that knowledge. The situation with the wider family sounds difficult too.

Dd knows about it but although she is only 15 she has no ASD or OCD to worry about. Also as she doesn't have the gene she doesn't need to worry about her future children.

I don't think the probability of developing the illness is known. 9o% of people with the joint condition have the gene but that is the only firm statistic I have seen. And of course it doesn't help with knowing how many people with the gene develop this aspect of the condition never mind other ones.

Obviously if he had a blood test he would need to know why. Even although he has to have regular blood tests to monitor his medication, I don't think they would or should take blood to test for the gene without his knowledge.

[2boysnamedR]

I think I personally wasn't prepared for our results. I knew there had to be a genetic link, but until we got the news I didn't appreciate how the knowledge would effect us emotionally. I had my scientist head on before the results.

One of the questions I wonder is that we can't change or improve anything knowing what we know. But my kids could screen this out with ivf. Thinking that honestly does my head in.

I wanted my dd tested so I know to act fast with late milestones - but I was told it was my children's decision to ask at 18 when maybe - who know the nhs would say no again

[OneInEight]

It is a very difficult dilemma.

One of my questions would be if there is any positive thing that could be done with the knowledge e.g. change of diet, lifestyle etc to reduce the risk of the disease developing even with the genetic component. Or if there is early treatment does it reduce the rate of progression so it is advantageous for him to go the GP as soon as early symptoms develop.

If there is not then I would be tempted in your circumstances not to tell because of the anxiety it would create.

I guess you would have to rethink when /if he is likely to have children and the consequences for the next generation.

We have had our own ethical dilemma this week and chose not to tell ds1, although he is much younger at 12, because we know it would create high anxiety as he reacts very badly to uncertainty. I am not sure if the LA people involved agreed with us but they did not over-rule our wishes & given that the crisis has moved from "red-alert" to "amber-alert" I think we made the right decision.