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 hear you. I hope that your counselling is giving you the space that you need to be heard.. to voice your feelings in a space without judgement, where you can put your needs first, even if you walk out of there and put a different mask on when you leave. If it doesn't, which is often doesn't when it is linked to other medical care, then I hope you can find that space for yourself.

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

To be fair, a lot of posters responding have been through this emotional toll.

The reason the medic isn't backing down is because they know how hard the healthcare system is for those who are diagnosed later. They will be fully aware they have patients who are fighting to get the education and housing they need, which without a diagnosis is almost impossible to get. So if the OP's baby gets a diagnosis now at least that's one thing the OP and her DH aren't fighting.

'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'

Honestly you can't say that without being a paediatrician yourself and having examined OPs child. Genetic testing is extremely expensive and is not done on a whim.

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

He didn't have any genetic conditions

I understand how daunting and draining genetic testing can be but it really is important.
When my daughter was diagnosed with one condition she was offered genetic testing to see if there was a genetic cause. A very serious condition (not linked to the initially diagnosed condition) was randomly discovered. The condition affected our future family planning and will affect my daughter’s when she is older if she chooses/is able to have children.

The condition also affects her daily life and is degenerative so is becoming worse with age, we are so glad we know about the condition so we understand why her health is worsening and we also ran the risk of having more severely affected future children without the knowledge. Instead we were able to take appropriate steps to prevent that.

Is the process being fully explained to you, do you feel in the loop? We have a wonderful paediatrician and have had lovely geneticists which provided a lot of support which made a big difference. We also had an initial report after our daughter was seen which didn’t read very nicely when describing some of her physical features but it was medical terminology so incredibly blunt which stung so I can understand your feelings regarding that.

Wishing you all the best x

Yabvu my mum made similar decisions to you I'm now having to deal with it. It doesn't go away because you don't test it just means any help and treatment is delayed making situations a lot worse.

My friends daughter has mosaic Down's syndrome that wa wonky found close to 4 . She refused all testing until then as her features altough a but visible did not impact her development. Around that age she noticed she was struggling with learning so went back to search answers. You are not obligated to seek answers , if your son is healthy and has no issues then makes nil sense to poke him all the time trying to find a problem

I think it would be unfair on your DS not to find out if there is a genetic variation that could impact his health - you would be denying him access to specialist medical care.

I’m afraid I agree. This isn’t about you.

I understand you want to enjoy life with your LO and not have him poked and prodded. I've been there - but agree with this post that you should find out if there is any genetic issue.

Could you consider asking PALs to help you navigate testing - maybe ask for a break and work through the trauma you've gone through after facing this following giving birth. It doesn't mean you stop testing - just pause (especially if he is developing well and not ill).

YABU it would benefit your son to know. Especially if he has an underlying health condition. There's a woman who had 3 children who DS. So they looked into her genetics. She didn't look like she has DS at all the standard tests came back clear. But they analysed cells from a smear test and the 21st chromosone for trisomy showed up. I had never even heard of it. But Mosaic down syndrome is when not all cell's are affected.

If there is no medical issues theres no need for testing... if a medical issue pops up you can test then.

Its not some either or that this stuff must be done now... on average many learn delay conditions are not even tested until 8 years old.

You can't undo down syndrome etc... so its not like if you diagnose him before one you could magically change his DNA. If he is healthy and fine he is healthy and fine regardless.

Also to flip what others are saying I was misdiagnosed as a child, I was put on drugs that severely effected me and they where WRONG.

They started looking for what was wrong with me at 3 and I was misdiagnosed at 5 because they where just desperate to label it and I was 8 before they even started barking up the right tree.

Years of torture for nothing. I eventually got my real diagnosis, there is no 'medication' or 'cure' its permanent and I survive fine everyday. Truth is there is fuck all help. Diagnosis did not magically change, help or fix anything but misdiagnosis and treatment for that did a lot of damage.

I agree with you OP. Enough is enough. Not the same, but my child was offered surgery for something as a small child and I said no, let's wait and see, I'm satisfied we can manage it and if we need help I'll tell you. Everyone was respectful of this decision. Your voice is important. Don't be railroaded.

I'm sorry but you're being completely selfish and focusing on your own emotions.

Genetic tests are non-invasive and won't harm your son in the slightest. He is not suffering at all.

But if a genetic condition is missed, and he potentially misses out on early interventions, and understanding of any condition he might have, he may well suffer, potentially severely.

Your "mental health" shouldn't even be a consideration in your child's health. Imagine not wanting to find out if your child has a condition because you find the investigations emotionally stressful.

I've only scanned the thread, so apologies if this has already been mentioned..
There's a charity called Unique that offers support to families with a child with chromosomal differences.
There is an infinite number of permutations, my daughter's karyotype is is unique, there are many, many people with unique karyotype. I had no idea until she was about three, when she started nursery and was obviously different to her peers.

It's worth finding out if your baby has a difference, so you have some idea what to expect.

I think the website is called rarechromo.org.

Good luck.

This is a v difficult position to be in, and I completely understand why your instinct would be for you all to be left in peace until such time there may be very obviously something 'wrong' and deal with it then if needs be. The issue is though if that situation happens you are on the back foot and trying to play catch up where you could now have a clearer picture of what you might be dealing with. Of course there could be nothing, but I don't think this expensive testing would be proposed if the specialists didn't have strong reasons for it so personally I'd be inclined to err on side of caution. I'm probably influenced by a child I know for whom there were no concerns at birth, development was normal probably ahead of the curve tbh until about 12-18 months. He would lose skills or words but they d be replaced by new ones, emotional regulation was difficult for him etc. He was diagnosed as autistic around the age of 5 but his mum always always felt there was more, from when he was an infant she would say 'he doesn't look like anyone in the family. Come to the age of 6 he was diagnosed with the genetic condition Hunters Syndrome which has very strong physical characteristics. You have the advantage of being offered testing now, id grab it with both hands just in case theres a tiny chance this could be something like that that requires medical intervention and treatment

Some people are asking, as you have, ‘where do you draw the line?’ And the answer is clear - after the genome sequencing. It is a very clear point to pause at - ask to have a f/u a year post the appointment where they give you your results which will take your little one to peri 2 which is where lots of issues expose themselves, if there are issues to expose. They will have what they need on the database going forward and you get to file that under ‘done’ and then move forward with your little bub and enjoy watching them grow.

I have boundless empathy for you, OP, but I really think it is important to stick with it as long as you can.

Many people are on the opposite side of things to you: desperately striving for medical attention for their children and not being able to get anywhere. You've got what some parents are yearning for. I absolutely don't say this to shame you or guilt you (believe me I don't), but to try and reframe what you're going through as actually your child getting the gold standard of care by having extensive and cutting edge testing.

This could be absolutely life changing for him in the future. Getting back into the healthcare system would be nigh on impossible if later down the line he does begin to show signs that he might have something going on.

I've worked in social care (specialised support work) for nearly 7 years now. I know what difference diagnosis makes. I've supported disabled adults who don't have a formal diagnosis and you wouldn't believe how much of a barrier it is to a healthy, secure life to not have that crucial formal diagnosis, and how hard (almost impossible) it can be to try and get that medical/clinical attention later on in life.

You can always go back to it op if in the future significant issues come to light and you want to know more. My dc had testing to determine the reason for unexplained seizures which could have been indicative of some of some quite difficult to manage seizure disorders. The results showed that was not the case so that was reassuring. They did show a small genetic mutation which could potentially be associated with a wide range of potential delays and problems and was undoubtedly the reason for the seizures. Thankfully none of these have become apparent for my dc. If it is impacting your health to this extent then do take a step back and just enjoy your ds for a bit. Watch and wait and deal with issues if they arise, rather than going looking for them.

My dd has a very rare genetic syndrome that she was only diagnosed with at age 7 - until then she had a complete nightmare in school with lack of support. As soon as she got the diagnosis she got offered a place at a wonderful special needs class attached to mainstream where she has thrived. The process of going through the assessments and all the appointments is very arduous but I would definitely persevere with getting the diagnosis as you will help him in the long run to get the support he needs.

I think you need to get more support for yourself, whatever you decide with the testing. Do you have a friend or family member who works in healthcare or something related (like a teacher or social worker) who really understands what a burden this is on you and how concerned you are, and who might be prepared to support you through this next bit? Someone to lean on locally?

In your situation I would jump at the chance to get whole genome sequencing. I remember the days when doing this was impossible and only dreamt of, then when it was prohibitively expensive and could transform lives were that it were affordable. I used to work in genetics albeit research not the clinical side. It is amazing to me that these days WGS can be offered to patients like your son in the hope of identifying potential problems before they would otherwise be detectable. But I do not underestimate the strain on you so would prioritise pulling in more support for yourself as you go through this.

I don't understand the term preventative testing, it is just screening. The test doesn't prevent anything, it just finds things that are not visible yet through symptoms.

You're projecting onto the doctor, I assume you haven't actually had any conversations with them?

I completely understand that this is very draining for you.

All I would say is that having a named diagnosis of any sort is very helpful in getting medical (or educational, should it be needed) help.

Medical professionals see a syndrome name, and even if they don't recognise it, they are quicker to refer onwards at the hint of an issue, "just in case.

I sadly speak from experience - DS2 has an incredibly rare condition. (We were "lucky" enough to be pretty much diagnosed antenatally, though).

In the last year he has been diagnosed with a serious lung function issue - which only came to light because a paeds consultant referred us on "just in case" after seeing him for what the NHS regard as a purely cosmetic issue, and after all his signs in the paeds consult appeared "normal".

I would have the tests done for your ds’s future. He may want to have his own family one day and while he may be well now, it’s better to know.