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 have several friend with children with genetic conditions some of which where the symptoms weren’t initially clear until their children were a little older. However as I’ve become more aware, it was possible to see some of the soft facial markers from an early age. A diagnosis can help to ensure appropriate medical support and monitoring longer term, particularly if a genetic condition is associated with a higher risk of specific issues. It sound like the additional generic tests may pick up less common genetic conditions which could be hugely helpful in the future. Any diagnosis wouldn’t change who your child is but may help them and you longer term. Further testing may also give you some additional peace of mind and remove you from your current limbo, if any tests are uncertain you’re likely in no worse position than you are currently. Or you may have that weight lifted from your shoulders knowing that there is no obvious diagnosis. Having seen friends go through this process I understand the ongoing stress and anxiety and I’m sorry you’re dealing with this. I hope you’re able to start to enjoy your time with your little boy and that your counselling is helpful, it must have been a very stressful start to motherhood.

The geneticist has determined there is cause to have further testing, it wouldn't be offered if the medical team thought watch & wait was the right course.

OP needs to clarify exactly what that is clinically based on then and what conditions are there concerns around not just a doctor saying ‘I think it’s something therefore it must be’ and subjecting what we are told is a well child to over medicalisation. They need to give OP concrete answers and a clear plan not just keep taking blood and testing for everything

OP it's worth remembering that it's a hell of a lot easier to get blood out of a 9 month old than a 2 year old, so I'd get the testing all out of the way now, before it becomes a major challenge.

One thing to find out before you decide is how long does it take to get back in for testing if you decide to wait and see.

It was obvious when my DD4 was born that something wasn’t right, but after initial tests we were offered the wait and see approach. Once it became very obvious that the something was going to be an issue we called up, as we were told to, and were told we had to get a GP referral and go on a waiting list.

DD ended up queue hopping due a serious hospital admission but out “just ring up and we’ll sort an appointment asap” actually turned out to being put on an 18 month long waiting list.

Definitely find out before declining the exact process if you need to pick it up later.

This is a position which is incompatible with democracy and human rights.

The state must never have blanket power to impose medical procedures on citizens.

I saw a poster the other day which said 'If you trust the government, you had a bad history teacher'.

I second this.

I think there is a point at which to say "no more testing", but I don't think that point is at 9 months old when full sequencing has not been done.

I also think if you stop investigations now it will not put your anxiety to rest. All babies, in their early years, have behaviours or symptoms that make you think "Is that normal?!". In your case those worries will bite deeper and it might be calming to have all the information available.

@Redstar2015 does the hospital have a genetic counselling service? If so then you can ask for a referral and you can talk it through with them. They are trained in counselling but with genetics backgrounds. It might help.

They won't tell you what to do but can help weigh things up.

The point is the doctors have cause to believe there could be something. Therefore it isn't OVER medicalisation, it is just medicalisation.

These situations happen at times, and that is why we test.

I had a smear test, I'm well. I had a blood pressure check, I'm well. Tests for people who are well but in a certain category happen all the time.

I want to add a different perspective. I have a DS with who is disabled. It is now thought quite likely that at least some presentations of his disability are in fact genetic. As a result my son was offered genetic testing and while my husband and I would have consented to it, my DS did not. I don't know what would have happened if the tests were available before I felt DS was entitled to a view, but I am clear I won't consent if DS does not and while he is still a child it's his body.

If I knew he had a condition and he didn't want to know that would be very unfair. DS knows he is disabled, he understands testing may assist but he would rather not know more at least not yet. In our case the genetics team know that genetics may assist but they are very clear it may not.

It is my view that all tests are a balance. Can you go back later if you stop testing now? can DS? what if anything will change if you find out there is a genetic reason for any differences, what if it is one of the conditions where they don't know much. The question is how is it going to help you and him, and does knowledge outweigh any harm which is being done to your mental health now and what does that mean for the future.

Seeing the crap that some of my DD's nursery friends have and are currently going through I would get as much testing done now.

If there is a problem which then shows at 2 or later then, while you will still have to fight for him to have the appropriate education, at least you won't also be fighting to get him medically diagnosed.

Preventative testing is different and is based on clinical criteria.

OP explained that preliminary tests for suspected conditions came back negative and it sounds like the dr has got a ‘something is wrong but I’m not sure what so I’ll now keep testing till I find it’ rather than accepting the conditions they suspected weren’t present so they need to now take a step back regularly review and see if any developmental or other concerns arise

@Schoolstress14

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?

The medics don't agree.

I really sympathise, OP, but I would forge ahead with the additional testing.

I'd do the whole genome sequencing as that will put the whole topic to bed once and for all, and you can then move on knowing you did everything asked of you.

It sounds to me that this particular medic can’t back down and give OP some space to just see how her ds develops ? Even if they meant a review In a few months why keep pushing and doing tests that aren’t clinically indicated - all the conditions first suspected have been ruled out and it sounds like OP just needs a break from the medicalisation of her currently well child

I say the above as someone who was asked to have the same thing done with my daughter because of......the size of her head! They drew blood once, then told me the sample was spoiled and they'd need to do it again. I insisted she be numbed first with spray second time around, and she felt nothing. I know it's stressful. All came back normal and she grew into her head as the years went on! She's quite smart, so I tell myself that's why her head was "off the charts". I do realise there's no logic to that. 🙂

The child of a friend was born with a genetic mutation.
it was not detected at birth, symptoms appeared from 1-2y old, yet it took 5-6 years to diagnose (rare mutation, very complex symptoms), which was very hard for all
if the doctors want to test, they have a good reason. Not everyone has the chance to be diagnosed in time. That it impacts your MH is neither here or there, sorry OP

That’s great that DS is doing so well and I’m sorry it has been such a struggle. However, some rare genetic diseases have different levels of severity and with early treatment can prevent or even reverse damage. So I would definitely want to rule out any causes. They won’t be suggesting it for fun.

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

Like this poster, my child has a genetic diagnosis which was thought to be quite rare many years ago, but now the testing is available it's been found to be 1/20,000. So not common but significant.

Today it can be tested for at birth, but my child wasn't diagnosed until 8 years old. Had dc been diagnosed at birth, there are now many interventions that can help with development and medical characteristics of the syndrome.
Forewarned would have been forearmed. We would definitely have had an easier ride had we known right from the start.

OP your mental health DOES matter and so does your instinct. Ask for a review in the near future and give yourself some breathing space if you need it. If you aren’t noticing any concerning issues with your ds a few months will not affect anything negatively.

I think you really have to push on. I know it must be hard but this isn't about you, it's about what's best for him.
You don't want him to miss out on treatments for any other co morbid conditions that could arise from a genetic disease. You don't want him to fly under the radar just because you didn't want to do tests, if there is something it may well be outside of a normal gp's knowledge and without a diagnosis you may never get to see a specialist. I think you would be doing him a massive disservice.

My dd has quite significant additional needs. Her development was completely normal for the first 15 months. I’m not saying this is the case for you but I’d take absolutely everything they offer you, it may be extremely hard to get anything in future if you do need it. 9 months is just too early to know that everything is fine. The journey with getting support for a child with any additional needs is not an easy one, you may save yourself a lot of heartache in future by continuing on now. I’m sorry it’s been hard but I’d look at getting some therapy to get you through it.

As someone with friends and family with kids that have varying special needs, I would say if you are being offered specialist input now, grab it with both hands. There is no guarantee that if you wait until you are ready to deal with the process, that it will be available in any reasonable time frame, if at all. If the genetic test comes back with something untoward, yes that will be stressful, but at least you'll have a better idea of what you'll be facing, and can start the process of accessing appropriate support. Alternatively, the genetic tests may show nothing obviously wrong, and you just have a kid that needs a bit more time to grow into his face - when I was little I did not have much of a nose until I was about 18 months or so, going by my baby photos, and I've turned out reasonably normal. Either way you'll have ruled out a million and one "what ifs" that are probably plaguing you right now