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.

I should add we’ve gone along with further tests for our DS’s benefit as of course his wellbeing is the priority. 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’m not opposed to more testing if it’s what is best for him, but I’m struggling to see why he’s still being tested. As one PP noted whole genome sequencing can result in uncertain results so I’m weighing things very carefully as that’s a very real risk and we’ve already had extensive testing that has examined the things they think could have caused he’s features to be a little different.

I understand this feeling. We are currently undergoing whole genome sequencing for my lo and I often wish we didn't need to do it. My thoughts are that I would rather get it over with now, before my lo becomes aware, and also, as previous posters have said, I worry it would be tough to get back into the system. It all takes such long time as it is.

Of course, it's ultimately for you and your partner to decide what's best for your family

I understand your reasoning but if you had cause for concern later, you could find yourself on long waiting lists and having to deal with an older child who may not cooperate with blood tests and the like. (I’m assuming genetic testing involves taking blood) Your baby will be upset temporarily when blood is taken but an older child may remember and find it traumatic.

but then also whole sequence genome testing is non-invasive. It's a simple blood test and then you wait.

Could you clarify for us what your concern is about the genome testing? Maybe that would help us understand.

My child is adopted has a half sibling who has a genetic condition. We saw a geneticist on the advice of our GP even though my child shows no signs of this condition. The geneticist said that we were right to do this as even though there are no apparent signs, they could still have the condition or be a carrier of the gene so they will potentially need/want this information if they ever decide to have children.

I would strongly urge you to carry on as your needs and your child’s needs are different. I recognise that this is stressful for you but that doesn’t mean that it isn’t information your child shouldn’t have.

I would take the testing. Your son will need to know if there's a problem - the right treatment could have a massive effect on his future. It's not fair to deny him that information and support. Best to do it now, while he's a baby.

I think that if you have doctors who are engaged and wanting to help you, it's madness to turn that down. The way things are going, the help might not be available if you turn it down now and then change your mind.

@doppelganger2 , thank you. This is the kind of perspective I was hoping for. I’m very aware I need to do what’s best for my child, but need to see clearly the point in continuing investigations as it’s just so hard. It’s probably not clear from my OP but we’ve pursued any and every thing to get the best care for my DS. And most likely we will continue testing even though we’ve been given the option to wait and see too, so I’m not burying my head in the sand or anything.

Unfortunately "different features" are a marker for certain conditions.

My DC3 was diagnosed clinically by a geneticist with a rare genetic condition when she was 6 days old. The diagnosis was based on her "features" (as well as low tone and not feeding well) Blood test confirmed diagnosis a week later.

There is a reason they are recommending you test further @Redstar2015 You either get the all clear and can put this behind you or you get a diagnosis and then you have options and support.

Hmmm. I would step away from
this thread (probably delete it for your own mental health) and instead go back to the doctor saying that you don’t understand the need for further testing or see a need for it and can they please explain it to you in detail, as this process is stressful and upsetting for both you and your baby and you want to be sure only necessary tests are done.

As someone who has had to pin down a screaming crying child for blood tests, several times, I’m not really in the “Oh just test” camp. If it’s necessary, of course do it, but only if the doctor has a very convincing explanation of why it’s necessary.

The other thing to consider is if there's a genetic condition that might impact subsequent children you may have. Best to know and make informed choices, I think.

I do sort of get though where you are coming from. Everyone wants a healthy child who develops normally and having this certainty questioned is hard. Assessments have always been stressful in the past (when we were still clinging on to the hope that all is normal and DD would catch up - it got a lot easier once we digested and accepted her diagnosis). Living with the uncertainty was one of the hardest times in my life and I wouldn't wish it on anybody.

Kindly, as I don't want to upset the OP, a child does not end up under a geneticist without a very good reason.

Not all conditions are obvious / well known / easily identified. The OP's child has been referred to (and kept under) a geneticist, for good reason.

Having read your update @Redstar2015 it sounds like the process so far has been to test for specific conditions on the basis of the most likely possibilities. It's the most cost effective way when they have identified most likely ones. A targeted approach.
However, those tests eliminated those conditions. As they've now suggested whole genome testing, it sounds as if they are casting their net as wide as possible. This would mean a single investigation to see if there is anything currently known.
If there is something, it's going to be something that's not obvious. Not necessarily more serious but just lower down the list of 'likely'. One test to cover all possibilities rather than lots of individual tests to go down that list.

Well.you don't have to agree to anything
But my son was developing normally at nine months ,by 18 months it was apparent there was something going on he was diagnosed with autism at three and at southern he,s severely autistic non verbal etc
He had a microarray blood test at three and they found a chromosome deletion thought to be the underlying cause of his disabilities, it doesn't change anything But it does give us some answers

@Pancakefam , thank you for the perspective and sending you a handhold. It's a tough process. I think partly the decision making is hard as the doctors have gone back and forth (he's "normal," he's "not normal").

@x2boys , thank you for your perspective and I'm glad you were able to access the care needed for your son. I have thought of this very scenario. We have already had a microarray test, among many other tests, run on our DS which came back normal. I guess part of me, which I know really only the geneticist can answer, wonders when we've done enough testing to have done right by our DS and ensure we've protected him as much as we can.

@CorylusAgain , Yes, that's exactly right. They have said they do not know what he might have, just that there "might" be a genetic explanation for his features. I know my OP may make it sound as if I'm being unreasonable, but most likely we will carry on with this test after getting more information on the criteria used to filter results. That said, it doesn't mean I don't still wonder when enough testing is enough. No test will be definitive. Science is always changing, etc. And our DS will change too as he grows. So when do you get to the point of discharge if the doctors don't find anything in an otherwise healthy and developmentally normal child?

I've just found out, at 43, that I have a genetic condition that affects me physically (not cognitively) and explains all the battles I have fought my whole life.

I spent 43 years feeling lazy and wondering why everyone found certain things easier than me. It wasn't obvious enough for anyone to realise I guess, but as soon as I got the diagnosis so many parts of my life make sense.

The diagnosis doesn't just give me peace of mind, it also means treatments that may make life easier for me.

Why wouldn't you want to know that for your child? I

It's a really hard one
As a paediatric specialist, I can say that genetic testing is often inconclusive. It may show a genetic abnormality which is hereditary or a spontaneous mutation. It's important to do it so they can tell a) does your child need any treatment sooner rather than later, such as some metabolic conditions and b) it may impact on your choices regarding further children if is hereditary, so in your position I would be proceeding with the tests, which are relatively painless

• as a parent I fully understand your hesitation. With our 2nd we were told she had severe brain abnormalities which may not be 'compatible with life' and advised to consider a termination. We didn't due to our beliefs, and at nearly 5 she is absolutely fine, with no apparent disabilities. We were offered a repeat head scan when she was 3, which would involve her being put under anaesthetic, and we decided not to proceed as we felt the risks were higher than the benefits as she was doing so well.

Ultimately no one can make this decision for you, you just have to try to think whether you will have more regrets about testing or not testing. Sending you huge hugs

Yabu. Stopping testing may be in your best interest, but it isn't in your sons.

I have not logged in for about 6 months but had to in order to respond OP.

You have done everything right. You are clearly a fabulous mum and your DS is lucky to have you. Your concerns about seemingly endless testing are valid.

I would say that some posters here are not considering the emotional toll this takes and the very natural instinct you have to have a point where you stop seeking something which probably isn't there.

My DS had a marker for Downs picked up at 20 week scan. We had loads of tests. Nothing at the time could rule out Downs other than an amnio which we decided not to have. For the next 20 weeks I pretty much believed he had Downs and it affected everything. On the day he was born, he clearly didn't have downs and they suggested a test for CF. I point blank refused. I was not waiting any longer in uncertainty. The chance he had CF was about 1 in 20,000 which I knew because me and his dad were tested.

After he was born I spent probably a year waiting for whatever was "wrong" with him to surface. All because of a marker than turned out to mean nothing.

I would say look after yourself. Enjoy your baby. Do what you feel is right for you and your family. Not pursuing every test you can is not necessarily wrong. In fact it could be very positive for your mental health.

Just really wanted to say I hear you, I get where you are coming from, I think you are amazing. You have been through so much. You are basically a hero. Hang in there and do what you think is right. If given the option of watch and wait, that's what I would do.

As someone who has been through this, I totally understand your position. We went through lots of genetic testing, whole genome sequencing for dd1. She also had a skin biopsy sent to Amsterdam and Cambridge uni. Nothing was found but the biopsy was taken so tests could continue as new things were found/ developed.

At one point I said stop to all testing. Nothing had been found and we were treating the symptoms rather than the cause. In the end I agreed to more testing because we wanted to have more dc. So, if you are planning to have more children I would continue with the tests in case something is found and embryos can be tested pre pregnancy.

@CorylusAgain I worry about finding either uncertain results that cause more worry than help, or a result that doesn't really change anything in terms of our care for DS. Of course if there is something where intervention or preventative care help, yes we need to know for his sake. Probably I'm just afraid, as any parent would be. I do worry a bit that genome sequencing is being pushed because the UK gov seems to be investing a lot in this sort of screening at the moment (thinking of the Newborn Genomes Programme). I think you posted earlier about it being a way to cast a "wider net," which logically speaking is the real reason.

I've had to pin a child down for tests plenty of times but never had the impression that any health professional has ever done an unnecessary blood test, it feels like a really unfair assumption tbh.