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 totally get where you are coming from. I don't think it's unreasonable to ask to pause genetic testing at this point - the only caveat being if they were trying to exclude a particular condition that might be helped by early diagnosis or had a specific treatment. He could remain under paediatric follow up and be investigated at a later point if/as/when any problems arise.

I’m sorry this has been hard on you. I hope that you’re right and nothing is wrong with your little one, but I’d say it’s best to find out so they can get the best possible care.

i know someone whose child has a genetic disorder that they are dying from. There is treatment but it would have needed to have started before symptoms appeared, and they had no idea. So I’m in favour of just finding out and knowing exactly what you’re dealing with.

Well of course I haven’t spoken to OPs ds doctor.

I do however have extensive experience with doctors and consultants either saying something is definitely wrong or that there is absolutely nothing wrong, dismissing my concerns and instincts and in both cases were wrong As they had some kind of god complex and just could not accept they didn’t know best

I would absolutely carry on. I know it’s hard but keep going.

In this case, it’s quite standard to test for genetic causes when dysmorphic facial or body features are presented.

When it comes to these things, sometimes the symptoms show later and sometimes the conditions are degenerative.

If it’s being recommended it will be because it’s deemed the correct pathway.

I’m sorry but I think it’s important to know. It could have implications for your son’s health and I think it’s unfair on him not to get the whole picture.

I think this is wise advice OP. Fwiw I can see your desire to stop ISN’T just about you and DH but about DS as well, and that you are feeling protective. But if the testing might help in some way, you want him to have those advantages and, come what may and regardless of any diagnosis, he is still going to be exactly the same gorgeous little man you love today. The testing won’t take that away and any diagnosis won’t make him someone different.

A girl in my DDs class had a very rare chromosomal disorder which was only picked up in the last year of primary school. By that time she was very behind both academically and socially. The developmental gap wasnt really obvious when she started primary school, and ahe would have benefited from the additional support she would have got if everyone had known sooner

If your DS has a genetic abnormality you should do everything you can to pick it up early.

It's a tough one.

I'm coming from the other side and will share my story in case it helps you make some decision.

I noted my ds had some differences from a young age. Not many people took me seriously and I accused used of it being a LP (eg I'm watching for things 🤔).

Ds was clearly autistic from about 18 months. He's what they call HF so didn't get diagnosed until 8yo. But it was the physical stuff. I could just tell something was wrong and at 8 he started toe walking. This was blamed on autism but isn't usual for children with autism to start toe walking later it's something they tend to do from beginning.

Roll n a few years of his mobility declining and lots of various genetic tests picked up a very rare genetic mutation on a very rare gene. It's a form of MND and he's losing his muscle mass as well now.

At 9 months then than the fact he didn't use his hands properly you'd have never known.

There is the fact that is knowing doesn't mean we can change things for ds. But it doesn't mean we know what we are dealing with, medications for therapeutic use used in his condition and means we can manage it better.

It's hard. I get why you feel the way you do. For me not knowing when there was clearly (imo) something different was hard.

Only you can decide if you want to know now or pick this up again in the future. In your situation I'd be asking the consultants whether they think picking anything up genetically will make any difference to your ds. Do they see any other concerns knowing a gene fault would help them support and/ or treat.

Personally I would go ahead with the testing. My Dc had testing and it turns out they both have a condition that will impact their chances of having children in the future. Glad we went ahead with the genetic testing as they are now in the system for help to have children when they are older.
it’s hard for you, I get that but I really think you should keep going for sake of DS xx

I hear you. My daughter went through similar (although for a different condition) and it was tough. We have had multiple tests, including genome sequencing, and it did reach a point where we felt that tests were being performed more for the interest of the genetics team in furthering their research (she has a rare gene mutation that appears to have caused her issue) than for any actual health or treatment benefit of our toddler. So we have declined further testing for now but may agree to more further down the line when she is older and can tolerate more or if more issues become apparent. I think the important thing is finding out how further tests going to benefit your child and proceeding from there.

Even if you decide not to carry on testing I don't think it will give you the break you understandably crave.
You will probably always be wondering if there might be something wrong.and that's just as much a strain on your health.
Not testing would not make a problem go away.

I think its right to investigate now when he is young and it is being offered rather than wait and then have to fight for it if he struggles later.

Plus even if you don't want more children, he likely will. He should know if there is a risk of passing a mutated gene onto his own children who may be more severely affected.

Whilst it’s tempting to look for a switch that turns off anxiety and depression, that isn’t how mental illness works. You may well have had PND if your baby had been born without these concerns.

There’s also nothing to say that pausing genetic testing will rid you of depression and anxiety. What is best for your child is to continue with the testing and follow professional advice.

I’m so sorry but I haven’t read the full thread so please excuse if I’m repeating anything

Have they looked for a chromosomal deletion syndrome? Unlinke Downs syndrome when it’s the one chromosome (I believe), chromosomal deletion could be a huge number (to the point where some don’t have names). They come with slight to medium facial abnormalities, including noses, eyes and ears not in traditional positions.

The reason to look into it is beyond that. The drive to look comes from possibilities of severe heart issues (and I’m sure other serious health likelihoods), and moderate to severe learning disabilities.

Ok, it’s proven as not Downs syndrome. Please look further if the doctors want to. Just in case. It’d give you so much more ability to support your child. I completely get not wanting to, but once the offer is rescinded you’re unlikely to get it easily offered again.

I had a similar kind of scenario with my daughter but testing for a different syndrome. It was clear from birth that she had abnormalities and was in and out of hospital regularly for various things.

By 18 months she still wasn't crawling and there were concerns regarding other milestones. They knew there was SOMETHING wrong but couldn't pinpoint exactly what.

She kept getting tested for various things and it's very easy to say "Yeah, keep going until you get an answer" but I know how hard it is to have to keep pinning your screaming baby down while they're getting pricked for blood etc, just to keep being told there's still nothing conclusive anyway!

When she turned 5, her paediatrician finally just said to me that she clearly had an underlying syndrome but at this point, putting a name to it wasn't going to help or change anything and the best thing for me to do was just support her with her existing struggles and to keep an eye out for anything else that might crop up.

You have to do what feels right for your situation and your family but 9 months feels quite young to put a complete stop to it to me. Perhaps try and voice your concerns with the medical professionals looking after your son and see if they're maybe able to put the tests on pause for a while without discharging him completely.

I'm assuming they've asked you about alcohol consumption during pregnancy? As foetal alcohol syndrome can cause several facial features associated with genetic disorders (low nasal bridge, small eyes, smooth philtrum for example).

I completely understand your anxiety around all the testing, but it the docs aren't doing it for fun - I'd take the tests, assuming your DS isn't too distressed by them, but hope that things turn out OK for you.

Try to just enjoy your baby - even if he does have a disorder, he's still your wee boy, and you won't love him any less whatever happens.

I would follow the medical advice. I somewhat understand how you feel, my DS had a run of tests when he was a toddler, blood tests and a scope and I felt conflicted about them as they were quite hard on him and ultimately my gut feeling was that he was fine. But I just think you need to take the medical advice on offer - it could help your DS.

Like others have said - not testing is not going to make a problem go away.

My DS has a genetic condition and diagnosis. He presented with typical development until approx 18/24 months but luckily we had a HV who was totally on the ball so we didn't have to battle for testing unlike other parents I know.

I completely empathise with the stress of testing but try to look at the long term. My DS is now on a medication for life- however it's increasingly likely that the NHS will move to stop funding newly diagnosed patients accessing this particular medication. Luckily for us, he would remain on it. A genetic diagnosis can be life changing.

Ask for an appointment with a genetic counsellor. They can go through everything with you. I would probably go for wgs just incase you want to have more children to see of there is an inherited genetic issue

We have a good friend who has a genetic condition that shares some similarities (from a scientific perspective) to Downs. It wasn't picked up until he was 12 despite his mum taking him to GPs many times as she just knew something was wrong. When he eventually saw a GOSH consultant his mum was told that if it had continued to go untreated it was unlikely he would have lived to see his next birthday and that it was a miracle he'd made it so far. He's now in his 30s and lives a very normal life (supported by medication) but his childhood would have been quite different if only he had been diagnosed earlier.

I meant when all the cells are not affected.

As someone who has had the full genome mapping done (my doc arranged it through St Mary’s Manchester as part of the 100,000 genome project) I would say don’t do it.

I waited over 2 years for the result which was a single a4 letter saying they’d found nothing.

I have heard that many companies now have access to this data and I’m far from convinced my corporate opt out will be honoured.

Hi OP there were concerns raised about my DD during my pregnancy because she wasn't growing properly not even at the 1st percentile. However they couldn't determine what was wrong and I refused amnio due to the risks. My consultant explained that it might not be apparent what was wrong at birth and it could be as late as 3/4 years old before issues arose that made it clearer what was wrong. The thought of spending the next 4 years watching her and scrutinising everything she done was a horrible thought so when they offered genetic testing at birth I took it. I got the results last month and she is thankfully perfectly healthy just incredibly small. If you think you could put it all behind you then I understand why you want to move on from this and just enjoy your baby now I just knew that for me personally the not knowing would eat away at me.

You’re absolutely bonkers to deny him that care, OP. Buckle up, it only gets harder.