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 was affected by my parent refusing testing when I was younger. I haven’t been able to access treatment and have been more or less bedbound and unable to eat for years.

If you are not planning to have more children, and are finding the testing, waiting, not knowing if you might get a call process difficult I think I would take a pause on more tests. Our testing was a few years ago and we were strongly encouraged to take part in the 100,000 genome project. DH was all for it but in the end we declined because O couldn’t cope with getting a call 5 years down the line. If your DC does develop any symptoms you could restart tests then….

He may well appear fine and healthy now but a lot of genetic conditions don't show their true nature until the child is older. If it turns out this could have further implications and could have been treated but wasn't because you had enough of all the tests, you are going to have to live with the consequences. What if he decides to have children and passes on something even more challenging?

Also if your child does have a genetic condition it there could be implications for other siblings and it is far better doing testing before decisions need to made urgently because of a pregnancy.

My son has disabilities and at 9 months these were not notable- he met all milestones.

Can he though without delay? If he starts having issues when he’s age 5, 10 or 15 can he just slot back in and get genetic testing straight away. I’d think probably not and would have to go through cahms or paediatrics for which the wait can be years

As someone who has a genetic condition, I was thankful to find out. I would have been very upset and angry if my parents didn't do the test.

But then other people have had a screaming child that they’ve not been able to get into school without major as the child can’t cope and this can go on for years while people wait to get to the top of the cahms or paediatrics waiting lists, children can be so traumatised by not having their needs met at school, at least an early diagnosis indicates what you may be dealing with and makes it easier to get school support if required

I completely understand your thought process and just how much this will be impacting on your mental health having been in a similar position myself, but I urge you not to turn down the option of a full genome test in case your son has a condition which isn’t immediately obvious now, but, without supervision and potentially intervention later down the line, could have serious consequences for his longer term health.

My son was born with a rare craniofacial condition a decade ago when these tests weren’t available. I knew there was something different about him from the moment he was born, but couldn’t pin point what. We saw a raft of paediatricians, ENT consultants, had a CT scan - the resounding response was that because his development was on track and he was such a happy little chap, there was nothing wrong with him. One paeds consultant told me to stop stressing and go home to enjoy my baby. We had one last private ENT appointment booked and very nearly cancelled it on the back of that comment, but decided to go ahead just for peace of mind. At that appointment, the consultant diagnosed my son just by looking at him as we walked through the door to her office. It was a horrible shock, but I’m always so thankfully that we pushed ahead with the appointment. My son’s condition was never going to affect him developmentally, but for the first 7 years of his life required constant, highly specialised monitoring and vigilance. This ultimately detected when he had raised pressure on his brain at 18 months and then again at 30 months, both seemingly symptomless to us, but requiring massive surgeries to prevent him losing his vision. He also had breathing issues which we had just labelled as ‘snoring’ but actually were putting his whole body under immense stress. With intervention, he was able to breathe more easily and grew 4cm in 4 weeks.

Not all conditions do require immediate intervention or treatment, but the long term effects of things going untreated can be catastrophic. If you do this one test, you’ll have an answer one way or another and can either put the whole matter to bed, or ensure your child can access the necessary care and help they’ll need to thrive.

I'm a parent to a child with a very disabling chronic health condition which we strongly believe to be genetic, I have the same condition but the research is not there, so it's incredibly hard to get a fully ticked diagnosis box for our condition. If the NHS is offering you the opportunity at this point to ascertain whether your child has the potential for a serious health condition that may impact them at a later stage I would not be turning them down. We have been at the end of so much gaslighting about my daughter's symptoms we truly have medical ptsd as a result.

As we do not have the recognition we are being dismissed by the NHS. We are fighting for proper care because she is complex, the NHS cannot work cross speciality in this instance, we cannot even go private even though we are willing because they turn her down as she is too complex. Think of your child right now as hard as it may be for you to go through in this moment

It’s hard and I can understand your reluctance. You may get a conclusive diagnosis or you may not, but you’ll know you did everything you could if he does present with some issues that start later on. A diagnosis might affect the type of treatment he might need medically/psychologically and mean that he gets treatment that is better suited to him.

Genetic testing for the condition I have wasn’t available until I was in my 40s. By then I’d unknowingly passed it on to my DC and realised it was complications from it that led to my DMs early death. Had testing been available, the surgery she needed would have been carried out very differently and probably not led to the complications that she died from. I wouldn’t have had DC if I’d known how heritable it was and how severely it could present. Hopefully your DS will go on to have no problems but if there’s any chance that a diagnosis may affect the care he receives throughout his life , I’d say it’s worth the stress now.

I totally understand that you just want to enjoy your baby - 9 months in my opinion is such a lovely age - and I’m sure that if you notice something is wrong later on, you can seek medical help. That said, if the testing has been offered, wouldn’t it be a good idea to accept? A really difficult dilemma OP.

@Redstar2015

Deciding whether or not to have further testing is not a straightforward decision. Give the genetics clinic a ring and ask for a further conversation. They really won't mind speaking to you again.

My sons bloods was sent off and we had no dealings until the results came back. It was a micro array..just the one test.

Unfortunately they did find something. My boys deserve to know if they want kids.

Could they just not do a micro array? It was like getting any blood test but took months. No chat or appointments while we waited.

I can't help thinking if there is a problem, the quicker it is found the quicker and more likely you will be to access any help he requires. Many parents have to fight so hard to get special services for DC with SN's. The process can take years to get the EHCP. An early diagnosis would be so beneficial for your son. If everything is good he won't need it.

I do not see that you can deny your child whatever is offered for them by NHS. The NHS would not offer any treatment or test it did not think was necessary (as you will know). So many examples of why in posts above.

A friends son was born, something was amiss with his facial features and size so he had genetic testing. They did get a diagnosis. He's nine now. His parents read up on everything, discuss with consultant. Have had to educate their GP and their school because neither had any knowledge of this condition.

Knowledge means that you can advocate for your childs general health and education.

@Redstar2015

I know you’re fed up. I know you’re depressed.

But seriously, if your child has a metabolic disorder, or anything, it is imperative you continue with assessment to monitor him.

If you leave it now he might well continue to be healthy for a bit and then plummet with no one knowing what’s wrong, or you find out/continue to be vigilant and he gets the best care.

Honestly, everyone who has a child with a health problem or disability or potential for same feels exasperated and tired with it all that is normal. But you can’t just give up on them being assessed…. Because you’d rather they were fine.

Please continue to get support and get to the bottom of things. 💐

I think that the uncertainty must be awful and the appointments must be so so stressful. However, ultimately the results could provide certainty one way or the other. They could bring reassurance that he is absolutely fine, or offer you some concrete solutions. If there are issues, then they will emerge later in any event. Having a young baby is so stressful and such an emotional experience. No wonder your mental health is poor. I would focus on addressing that and making time for you to do something that you enjoy that helps you to switch off. Xx

YABU. It’s not about you. It’s about your son.

This isn't about you, this is about your son. Get him tested.

From people I know who have children with genetic conditions here are some of the reasons that knowing early is better than not knowing:

1. if it’s genetic it could not only affect your future children but also future nieces and nephews as your siblings might be carriers too without knowing.
2. it can significantly improve your child’s quality of life in the long run and potentially even extend their life.
3. this testing can take years. Best to get it done now so when symptoms do start to show you recognise them and are prepared

Having posted already & nrtft I've just read your updates. I can understand the mental load on you & your partner is huge, especially when in front of you right now you have a happy, meeting milestones baby. You sound like you've been through a lot & i want to acknowledge that. Only those that have been through similar can truly appreciate the toll it takes. You will know the right decision for your child & your family.

me, DH and DS have had genome sequencing due to his severe SEN.

what the results showed was that I carry a gene that has mutated. It means I have a 50% chance of having a girl carrier and a 50% chance of having a boy with SEN (autism). It’s so rare it doesn’t have a name and there’s only a handful of us. It was a shock as I have 2 brothers who don’t have any issues.

it meant that, armed with this information, me and DH decided it was too much of a risk to have another child like Assad he needs care 24/7. After being told I wouldn’t be sterilised I brought this up and was sterilised at 41.

it also means my DD can be tested to see
if she’s a carrier before she decides to try for a baby

This OP.

Your exhaustion is completely understandable 😞but explore some ways to get support that don’t mean stopping with the testing as ultimately pushing through the tests is likely the release you really need: they may reach a conclusion there is absolutely nothing to worry about, or they may find things that you will get help and support with - and which may be quite easily managed for him. Either of those outcomes will be better than underlying worry. I’m sorry you are going through this.