AIBU? To want to stop genetic testing for DS

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My son was suspected of having Down's syndrome at birth and was examined by a geneticist while still in hospital. We received the results of the tests they ran (all normal) at the time and were told all the features that raised the original concern were determined to be a "variation on normal" by the genetics team. Fast forward several months later and a review in clinic with the geneticist resulted in further investigations. These were solely based on the fact that my DS's features had not softened as they thought they might (e.g. he has a low nasal bridge) and so the geneticist wanted to run further tests to see if there was a genetic explanation for these features. Among the things that they've considered and ruled out are mosaic Down's syndrome and metabolic disorders. The actual tests run are quite a lot so I won't list them all here, but now they are offering whole genome sequencing as they say it's still possible he has a genetic condition.

AIBU to want to say enough is enough with the testing? I want the best for my DS, but he's now nine months old and growing and developing normally and is generally in good health. I've paid privately for assessments of his development too to be sure I'm not just in denial about things. The whole process has been absolutely debilitating for my mental health and I'm getting counseling via the NHS, but honestly feel that the only real "cure" will be getting discharged so our family can move on from things. It's hard not being affected by the continued focus on my DS's looks and admittedly I have depressive episodes as a result. I feel it cannot be good for my DS if the process of genetic testing is impacting our family so much (it's affected my DH too, but he manages to hold in his emotions more), especially if my DS is well and healthy and struggle to see the point of further testing.

I think it would be unfair on your DS not to find out if there is a genetic variation that could impact his health - you would be denying him access to specialist medical care.

I understand that you would like this to be in the past, but the priority has to be your son's health.

You have to prioritise his genetic health, and get the necessary support for yourmental health to enable you to deal with it.

I am sorry you are struggling, but I tend to agree with the PP - you are doing him a long term disservice if there is a genetic problem that could have longer term impacts. Information is power so the more you know, the better it is for yo u and him as you manage any future challenges.

If you are finding it very difficult and he is developing normally, perhaps you can ask to have the full genetic test delayed by a few months or a year to give eyourselves a break.

When I say this you would be denying him access to specialist medical care I mean if they find a genetic variation, /he will be entitled to specialist NHS medical support if needed. Deciding not to check is a massive decision that could impact his whole life.

I think it would be unfair to stop the testing if there is an issue. You seem to focus on your needs rather than your DS and if there is something then surely you would want to know and correct care be put in place

I'd go against PP and say it's upto you as a parent to make that decision right now and if it's not what is right for you and your family, then don't do it.

Like you say he's developing as expected and you have no concerns. You can end up finding genetic defects that are of no significance and cause more worry. As long as he's doing everything fine then he can always be tested in the future.

At 9 mths everything appears fine but this might not be the case at 5 or 15 yrs. By then being seen and referred to specialists will be harder and most likely at a time when he is struggling.

You are with doctors who are bothering to investigate, not poo-pooing your worries and hiding everything under the carpet. Perhaps he has no genetic problem. Perhaps he does. I believe you have to imagine him 50 years from now, as an independent adult. Would he thank you for not investigating further when there was in the professional´s opinion a certain cause for more digging? What if not doing anything had serious consequences many years down the road? If it´s nothing, it´s nothing. You will have run the tests and according to knowledge in 2024 there is zilch wrong with him. I think this would be the way to go.

The problem with this is that by the time you think you need the support and help, getting back into that system can be really difficult.

At 9 months, natural development is pretty simple. it's entirely possible that this will change as he gets older. Having the tests, and knowing what you can expect and what support might be available would be helpful.

YABU

I understand what you're saying, but I think you just have to push through it to get the best available treatment for your DS. Nine months is a tiny percentage of his life, without wanting to sound pessimistic, there's plenty of time for other symptoms to become apparent.

If there is a genetic problem the any siblings may also be affected

my child has a genetic diagnosis. Developmentally unremarkable at 9 months. Differences became obvious nearer 2. A geneticist wouldn't want to test further unless they think there may be an underlying reason. Having a genetic diagnosis (if you get one) can be a powerful tool as you will know what sort of things to look out for, what aspects of his health and development may need more support or monitoring.

I too think that you should go ahead with testing. It is positive that your DS is developing normally (and whatever might be found will probably not change that) but it might be important for him or you to know some day.

It could take months or years to get relevant testing if problems do appear, so do it now.

I’m sorry but you’re wrong, at nine months everything may seem ok, at age nine things might be very different. While genome sequencing is difficult to get, I would accept it with open arms just in case there is something and we may need support.
If nothing is found then you can move on and never think “what if”.
I get that it’s very difficult but you need to put DS first and exploring the avenues and ruling things out is putting him first

I agree with this, my niece has DS, she has significant issues that became apparent later on. At the baby stage these needs were not presenting.

My child has had genetic testing for a condition he has. This would assist with finding tailored medication and support. They also said that whilst not all the conditions have been genetically mapped at present it could help later on if the condition are mapped

Ask if you can take a break and delay the testing- but I agree with others this isn’t about you - it’s trying to help your DC in the future it might not help today but it may in the future.

When there is a medical system almost on its knees yet you have doctors wanting to investigate grab the opportunity with both hands as it may not be like that in a few years

I haven't been in your shoes so I can't understand completely, however I have a dc with complex needs so may have some insight into the impact of assessment etc can have on mental health and well being. So you have my sympathy.

I do however agree with previous posters and think it would be in your son's (and your) best interests to have the comprehensive genome investigation.

If there are no genetic conditions identified then you have that clear reassurance.

If there is something, then knowledge is powerful. It may be that the impact of a genetic condition is not apparent until later in your son's development. And it may be much more difficult to get assessments done then. I've known so many desperate families searching for answers to try and understand their child's development and needs. If there is something, you will not face that uncertainty later.

And if there isnt anything then you won't spend precious time worrying and second guessing possibilities.

It's also easier dealing with some things when your child is very young as it can be extremely difficult to explain assessment/ investigations when your child is older but not mature enough to really understand.

I wish you well

My original response was based partly on knowledge from someone I was at uni with. At 9 months, her DS' issues were only mildly apparent. There were a few things, but nothing crazy. But they were doing the testing and she was worried because she didn't know how bad it would be.

He's now 13 and the truth is the this disabilities are significant. He's a smart, lovely kid, but his genetic condition has been extraordinarily limiting for him. I know that awful though it is, my friend is grateful they were able to get this knowledge up front and to prepare. And to build a community.

I think you need to separate your own needs from your DS's. The investigation is into his health. I think also on that basis it would be hugely unfair to stop that because you are finding the process hart. Would you stop medical investigations for yoursself if you DH would struggle with the potential outcome? You are conflating two things.

YOU may not wish to proceed

But

This is something that could impact on DS further down the line

YABU, kindly

I’m sorry you’re facing this uncertainty OP, it must be really hard for you.
I know I’m just a random guy on the internet, but I would strongly recommend you follow through with the recommended tests. Down’s syndrome comes with a whole laundry list of associated conditions, many of which I’m sure they have screened for, but some develop later: off the top of my head, it’s associated with a low functioning thyroid for which annual screening may be recommended, and various neurological conditions. You want to be able to catch this stuff proactively so he gets the help he needs as early as possible.

I have a DSS with a genetic condition - his parents didn’t find out until he was 18m when he started having epileptic fits. There were some soft markers like he struggled to eat lumps when weaning and was generally delayed in reaching his milestones. DH never imagined he’d have the issues he does now - he is now developmentally delayed to a two year old (he’s 14). I’m not saying that to scare you but DH believes if DSS hadn’t got so ill having such serious fits his brain damage might not have been so bad and therefore a better outcome.

I know it's hard but genome sequencing is the gold standard and so hopefully the last test.
It may seem like a wild goose chase but what tends to happen is that a small mistake in a gene means he doesn't make a certain protein....which may be what is causing his features....long term that could be a major issue. But if they find it now, and can give him preventative treatment. It won't become such a big problem.

There is an element of geneticists just wanting to find out....because the more they find out the more they may be able to help others, so I understand you don't feel its about you or your son.....but equally once they take the sample that's it! Test done.

At 9 months, school seems a million miles away. However, if he does have a genetic condition that becomes apparent later, getting help and SEN support will be so, so much harder and take longer than if you’re armed with a diagnosis from the start.

I understand completely your desire to draw a line under all the health worries. Try not to let them undermine these early months with your lovely little boy.

But for his sake in the long term, take whatever testing they will do. Turning it down and maybe needing it later when less accessible would be doing him a disservice.

I know someone who's son didn't exhibit any symptoms of his genetic disorder until he was 18 month old.

Forewarned is forearmed.

As someone who recently found out I have a genetic mutation which has impacted my fertility and may have implications for longer term health as I get older, I say test.

Information is power, the more you know the better you can prepare and understand if anything is wrong.