AIBU? To want to stop genetic testing for DS

[Redstar2015]

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.

One of my children had to go through genetic testing around that age. It was a relief to get it done and have the results and resulted in much less of a focus on soft markers. You'll never have closure if you don't do it, you'll always find yourself looking at him and wondering.

Thanks @Redstar2015
It's fine to tell me to back off, but maybe answering my questions might help firm things up for you?

What is the negative motivation in genome investigation that you fear about the government?

@anicecuppateaa , this perspective is very helpful. No, we don't want any more DC. There's just no way with what we are going through and I'm happy with the number of DC I have now. The example you give is part of my worry with pressing forward, though I do think at least we need to do the genome sequencing. But testing could potentially go on indefinitely as new things are discovered. That thought can be very overwhelming and makes me want to just say stop now and do a "wait and see" approach instead. My heart goes out to you. We aren't so far in the process, but I can imagine how hard it must have been to decide what's best for your DC when it comes to testing.

Sure, I don't think it's negative and has a lot of potential to help children. Actually, I found reviewing the guiding principles for that programme helpful. It is the kind of filtering I hope will be applied in my DS's case if we say yes to genome sequencing. I guess what I meant, and I read this in a different report, is that perhaps whole genome sequencing is being offered as the next option rather than an alternative test because this is what's getting the funding currently, rather than because it is the best test to run for our DS. And maybe if there were other options approved by the NHS then that would be suggested instead for our DS? That could be a completely unjustified thought, and it's not the dominating thought I have, it's just a little nagging worry alongside my bigger fears.

@MeinKraft , May I ask the result in your case? I think you are probably right.

To everyone, I'm finding all of your responses helpful and am reading them carefully. I will try to reply to more when I can look through things again later tonight.

Our situation is slightly different because it was clear from birth that our DD did have disabilities (she's deaf, tiny, unusual facial features and developmentally delayed), but we had the full genome sequencing and I'm glad we did because we got a diagnosis which has helped us understand her difficulties better. Her condition is extremely rare, so none of her doctors have met anyone else with it, but I'm still really glad to have her diagnosis.

My son is 10 and he has a genetic condition. We did genetic testing but then we stopped when he was 8 years old.

I understand where you're coming from - a lot of my childhood involved a lot of testing.

At 35 no one has an answer still. They've ruled stuff out (and found something which is harmless) but no closer to actually giving me an answer. I was told at my last appointment I may never get a full diagnosis.

Thanks again @Redstar2015

I completely understand the fear and anxiety of the responsibility of being your child's advocate, but doing so from the position of not being a medical expert!

Your geneticist has offered genome testing or wait and see. It is perfectly reasonable to ask if the genome testing is the best / only option , or if there are alternative investigations that could be considered. At least then you would feel happier that you are deciding between the 2 optimal choices.

Given the extensive nature of the genome testing, and all from single blood sample, if it is the best testing option, it would seem to be a good place to pause once that's done. But I get that its much easier for me to say.

I am in your shoes with a DC undergoing genetic tests.

Honestly while its a bit upsetting for me, i cannot see all the things that could be going on inside DC body and I regard it as essential to their future health to explore all avenues because there could be preventative treatment required.

I have a friend with a DC who refused some testing only to find that DC age 20 had premature ovarian failure. Had they had the testing earlier, the condition would likely have been identified and there may have been options for freezing her eggs as a teenager, thus giving her a shot at fertility in adulthood.

Think you should continue.

A different situation, but my mum stopped my brother from being assessed for autism as a child. He's high functioning but clearly ND as an adult, and has had to go through life compensating with no leeway or extra help. It upsets me because it holds him back.

So I would say get a diagnosis if possible.

This happened to us too when our child was born. Slightly different issues, but we were offered genetic testing and subsequently a whole load of other tests as he grew. At various points, they said he had a genetic variant associated with autism, a 10% risk of malignant kidney cancer that required scans every 3 months, and/or a fatal brain malformation (which they couldn't test a baby for). I wish I had bailed out of it all much sooner, because after all that, they just said there was no cause, no genetic issue and the plastic surgeon helpfully pointed out that he might resent me when he's a teenager, because he might blame me. It already broke me, and then I had that final random comment at the last appointment. Great...and yet even now when I go for some unrelated thing like hearing problems, the ENT doc will say "oh yes I can see he has dysmorphic features". It's made me feel like medicine is just random guesses.

I feel really strongly about this and don't think parents should have the right to withhold medical testing and assessment from their children. Ever. For all the reasons pps have mentioned.

This is a slightly different perspective so I'm sorry if it's a bit off topic. My parents gave up on getting me tested for a learning disability when I was about 7. At the time they were told the school could no longer support them and it would need to be pursued via other avenues and they decided not to bother.

I've struggled with it massively throughout education and wasn't able to get the support I would have been entitled to if I had been formally diagnosed earlier. I only received support in my final year of university and I had to work hard to get it. It's something I hold a certain amount of resentment towards them for, although I am very close with them generally.

I know a 7 year old and a baby aren't comparable and I don't have personal experience to relate to what you're going through but it may be worth considering how your son would look at your choices as he grows up. All meant kindly as it sounds like you're going through something tough

My son had hearing issues not diagnosed until 4 the fight for help is unreal. If I had known at birth we would have started earlier.

My friends daughter is adopted and was adopted at 6 months huge issues with eating and stuff and teeth and has just been diagnosed after years of going in and out of hospital with a huge hole in her top of her mouth linked to nasal cavity and palate - she is 12 and just had the op to heal the hole and nose surgery - 12 years and no one looked on her mouth and the consultant only did as he had students with him on the last appointment and he had dismissed all mums concerns as daughter is trauma and autism diagnosed. My friend cried and said I know something is wrong and the consultant said ‘it’s behavioural she is rejecting certain food as a behaviour’ looked on her mouth and right up at the back huge hole and them under sedation looked down her nose and nothing had formed properly - absolutely shocking.

They are offering do it. Nothing to lose - run it.

I really do wish you all the best with this.

Last month we received a very difficult genetic diagnosis for our son, a rare trisomy. The uncertainty is absolutely the worst part: you are in the eye of the storm waiting and wondering and it is so very hard. I feel for you.

My perspective would be to add that further tests may uncover something "hidden" in the first set. For example, we are having further tests to rule out a possible tetrasomy (four copies of the chromosome) which would change the diagnosis into something potentially affecting cognition and the internal systems to a greater extent. Perhaps these "deeper" tests for your child may find something hidden on the first layer of testing? (I hope they don't, of course, but good to rule things out!).

Also, my son's condition affects his heart, hearing, vision, cognition, respiratory system and possibly his gut. If you carry on with testing, you may uncover something that needs monitoring in later life.

It is so hard, but I was told by a mum whose child has the same condition to "be brave" through this dreadful phase, and it resonated with me and helped me push through the harder days. It sucks. Keeping my fingers crossed for you and yours.

I can absolutely see why you don't want more testing. But in the long run if the medical people advise it I think you should agree to the tests.

I agree with you OP. I’d stop the testing and only reconsider if any issues arise

But where do you draw the line at what I assume is invasive (blood?) tests causing a child who is well and developing fine so far unecessary medical intervention?

It must be so stressful for you and I’m sorry to hear it’s been so hard. But I think you need to agree to the testing. It could help your son, and either way it will bring knowledge and closure.

@Schoolstress14

But where do you draw the line at what I assume is invasive (blood?) tests causing a child who is well and developing fine so far unecessary medical intervention?

Testing isn't being offered randomly, if it were you may have a point.

I really think your should consider going ahead with genetic testing for the lifelong ability to be treated and checked this is really critical for long term health. Being forewarned is far better. Knowing something is better than always wondering

I understand that it is scary and the information overload is really overwhelming. I found I had a genetic condition at the age of 33 (just last year) mine is cancer related and was detected after cancer appeared unfortunately for me. I wish I had know before I tried (and failed) to have children this would have helped me decide the correct path. My whole family is now being tested with the exception of my father as he is absent - the test will allow anyone with the mutated gene to have annual MOTs at hospital - scans and blood tests to detect and treat the cancer early. To me this is both terrifying and brilliant. I am so pleased that my affected family members will have that knowledge to take care and be vigilant. I know this is very different but wanted to share how important having knowledge and owning any diagnosis can be.

I think you really must discuss this properly with your DS' doctor. Of course genome testing is now offered.

You said The geneticist has offered a wait and see approach or whole genome sequencing, which I don’t think they’d do if they felt this would be detrimental to his health - I expect if you asked the geneticist which they recommend they would give more info. Everyone has the right to refuse medical tests, being offered 'wait and see' doesn't mean turning down testing is the best route for your DS.

I do appreciate this is very difficult but you sound a little paranoid about the testing and that might not be helping.

From what OP says a lot of tests have already been done and in the absence of any symptoms surely a watch and wait approach should be taken?