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 very rarely post but I couldn't help but reach out as I am in a very similar situation and am struggling with the same decisions you are. My toddler has a physical variation but otherwise is completely healthy, happy and meeting milestones. We are in the process of some testing, including for a specific genetic conditon. But alongside this we have been offered whole genome sequencing and haven't decided how to proceed. I worry about findings of unknown clinical significance just adding to the uncertainty and stress without any kind of benefit. I worry about an incidental finding completely unrelated to what they were looking for that will have no relevance for many many years to come and not allowing my child to live in blissful ignorance until then. But I also worry that there may be something that would be important to know about sooner. I completely understand how you feel in having your well and normally-developing child under medical scrutiny from birth, the mental health toll it takes, and those horrible moments where you find yourself evaluating your wonderful child looking for signs of something being amiss. I'm afraid I don't have any useful advice, but I just wanted to say I get it. It is incredibly difficult. I don't think there is a right or wrong decision. It's figuring out what is best for your family. But whatever you decide you are not being unreasonable. Xxxxxx

I don't have much to add but we had genetic testing done when my son was in the womb, and some of the conditions they mentioned he may have ended up with were absolutely horrible and very extreme. It did add to stress and I had to realize later that they were probably quite low probability. Sorry - different situation to yours, but I just wanted to say that I can relate and if you feel you need to take a break from it that's valid. I assume you could go back to it later if something comes up?

I am so very sorry you are going through this. It is dreadful for you. But I would say it is in your DC's best interests to be tested. My little DGC has a genetic condition that was not picked up early enough despite her parents repeatedly saying they knew something was wrong. She has now had treatment but is left seriously disabled because the treatment was not started as early as it could have been. Another version of this same genetic condition does not show any symptoms until the child is 2 or 3. If it is identified before symptoms begin, the child can be treated and potentially avoid ending up in a wheelchair by adolescence. So as others have said, your DC may seem fine now but may have problems as they get older. Much better to know and get any possible treatment or help as soon as you can. It is so difficult I know, but you must try to stay strong for your DC.

I have a genetic condition that is now making me blind in my 40s. Would I have wanted to know earlier, no.
I also have a son with complex needs and I think in your situations I’d see if you can take a three to six month pause and see how you feel then

I fought a long hard battle for nearly 14 years for genetic testing for my daughter. She had it and a rare syndrome was diagnosed, finally we had answers to the previous 13 years of illnesses, oddities, stresses, delays and challenges. In that time we had had three social workers, five early help plans and my marriage has suffered almost beyond repair. It’s hard to know at 9 months what the future holds but development is so huge over the first five years or so you really should give him - and you - the best chance of dealing with any potential challenges in full knowledge.

in those 13 years we still had to deal with countless specialists and hospitals, operations and assessments. But no one would listen to me suggesting all the separate disabilities and delays were connected. Only once the full genome testing was complete did i get some acceptance that i did know what i was talking about. It hasn’t been the end and my daughter now has a major brain /skull malformation that may not have been picked up until she had a stroke.

you might think the mental strain you have been under is significant and I am sure it has been, but don’t put yourself under more by ruling out one thing that can open or close so many doors. The toll on my mental health if that 14 year fight is not something I would recommend anyone go through.

My son has had whole genome sequencing and we have found it really helpful. It has provided us with a lot of explanations and knowledge for the future.

You’re currently dealing with a huge amount of emotions, obviously the initial thoughts of DS must’ve been really overwhelming.

2 of my children have additional needs, although not genetic, I have had to fight and fight to get anywhere with getting support or a diagnosis.

If you have medical professionals willing to support you in finding out what support your little one may need, please take it. It will give your baby the best chances of getting any support they require (if any), also hopefully give you an answer so you can move forward. If you walk away now and change your mind later it is so much harder, the fighting for support and having no answers will really take it out of you.

Take the support, get your answers, give yourself time to process everything. It’s a lot but you’ve got this.

You never know what sorts of issues will arise as he grows up and if you don’t have all the available information you might miss something vital or he may have to undergo unnecessary tests. I know it’s hard but I think it’s in your baby’s best interest if u know everything.

As someone with a genetic condition myself please do not stop with the process. Family members undertook genetic testing which meant I got early screening that found cancer and has probably saved my life. It means I've seen my eldest starting school something that I may not have been able to do. I am forever grateful for my family to not put themselves first.

I do also know of a little boy who was perfectly fine on scans and when born. He then started having fits at a year old, after genetic testing he's found to have a condition that will mean he'll never be able to live an independent life if he makes it to adulthood. His parents went through some awful times with his testing and diagnosis. It's however meant that he now gets support in school and his parents can put the financial support into his care for when he is an adult.

To manage your child's health, to the best of your ability, you need more than basic testing. Especially genetic heart issues ,and the increase probability, and the increased probability of leukemia that go along with full down syndrome cases.

I support and assess children with Early years SEND and I have talked to many parents about genetic testing. The factor for me was always parental choice. However I did see a child who was in his preschool year and some of this features were unusual and had been missed by doctors. I very politely talked to the mum and she later phoned me and thanked me so much for talking about it as their child was diagnosed with something that has heart issues. All the family were then tested to make sure everyone was ok. It is down to you but think it would help and support you in the future but you have to be ready for that but I would say in my opinion it won’t change the nature of any difficulties as he will be supported either way but it will give you a reason for it. I can honestly say it it’s so much better to get the support earlier than trying to fight for it later on when you know something is not right xx

I was in the same boat. Saw markers antenatally and then at birth went for lots of tests whilst at NICU at GOSH. Whilst waiting for the array results, the doctors were overly focussed on the soft markers ie the nose and lip line. I did moan that I didn’t appreciate being told that he was ‘ugly’ every day! He passed every test except the array when they finally found a gene deletion. What this eventually meant is that the NHS system kicked in and I was referred to all the services needed. As my son developed, his requirements changed but they have a very clear history to work with because we stuck with it. In those early days I really appreciated that the NHS would call me to make appointments rather than me chase them (which is what is happening now). It definitely is worth sticking with it as it gets harder and harder to access help and being a baby opens more doors than when they become a child. It will be worth it in the long run to see through.

You are being unreasonable.
This is about your boy and you have the gift of being offered various complex tests which you cannot count on being readily available when he's older. Accept them and bank the knowledge they bring. Knowledge is power. It will enable you to plan his and your family's life better.
You are feeling awful about all this, understandably so I'm glad you have some support for yourself. I might have missed this, but does dad?

Diagnosis means you're left not wondering and can get support of needed. It's daunting but labelling is always far more useful than not.

I'm suffering from a genetic condition that can be supported and would have had far less impact if it had been discovered earlier.

This is a very personal thing and you have to do what’s right for you and your family.

if it happened to me my priority would be assessing the risk to DS’s long term health. They suspect a genetic condition, are they keen to identify it because they worry about future issues?

Basically Is the approach proportionate to the potential risk? I always find the BRAIN acronym helpful for medical things:

What are the benefits, risks and alternatives to this approach, what does your intuition tell you and what would happen if you chose to do nothing.

This does sound tough on you all and I am sending strength and care your way.

I can give you mine and my friends story.

We have been mates for years. Started our families with just a few months delivery. My dc was extremely prem and in hospital for a good few months. Child and I were very poorly.
My friend sailed through pregnancy and delivery. Our babies were months apart in age. We did everything together. It was mine who had the check ups every few weeks. Development scrutinised as so prem. That’s not to say my friend didn’t do hospital and midwife checks too. She did. As first time moms we did everything advised.

Mine started babbling moving about- great. But her’s made very litttle noise. Easy baby. Or so everyone thought. Mine was cruising the sofa. Hers not even crawling. Her dc was 4 months or so older. Everyone said watch and wait. But we both knew We both feared something was wrong.
Eventually she had a hospital referral all fine. Still no answers by almost age two. Until a genetic referral was made.

My god. I think the world ended that day for us.

Tests revealed a million to one problem that has left her child as she was at six months old. She has support she has everything in place but that child won’t develop or reach 20. She had to fight to get a referral even at that age.

I hope there is nothing wrong. I hope to god you never ever have to go through what my friends are going through. I’m sobbing writing this because I dread the day she dies.

They have other children now. But it took a long time before they took the plunge.

My point is at least they know, at least they are giving that child the best they can. Doing anything and everything like physio, enrichment, specialised school, special equipment, specialised wheelchairs. The point is they are as prepared as they can ever be and pull together as a family to make life so special for the time they have.

My third child may carry a rare gene mutation that only affects his female children should he have them. We have to wait until he’s 18 for NHS testing. Because he’s not affected.

Take what’s offered so you can plan and prepare. If something is wrong and I hope to god it’s not you have time, you are ready for that curve ball, made life the best you can.

My best wishes and good luck.

I am given to wonder if their testing is as much for their research as for your DSs benefit?

But, as these things are fairly new, it is highly possible that you will contribute to something that will help him later. And being in a "programme" will get you access to that help that others may not get. Do keep records for yourself of which medical folks (with contact details ) is testing what for future needs.

I have a friend with the same face shape that you describe, she is "normal" in every way. However her daughter is non-verbal, and developmentally delayed.

Hi OP,

As a mother of 4 who have different (likely) genetic/congenital diagnoses, if I may offer my twopence worth:

My eldest child's diagnosis at 17 came as a total bolt out of the blue when he needed a very specific kind of medical for future career. We already had 2 younger children suspected of a syndrome genetic in origin and my second eldest child had been diagnosed with autism with a familial link.

We have been on a genetics journey since DD (youngest) was born 15 years ago. In her first weeks of life it became apparent that that she had significant health and physical needs which have only become more difficult to manage year on year.

She has had extensive genetic testing, based initially on very specific diagnoses that can present with several different gene mutations. All came back negative. She then needed a skin and muscle biopsy which led to further head scratching. By the age of 4, we had been enrolled on the DDD study and then a few years thereafter on the 100,000 genome study

So far, despite such extensive testing nothing has been found to explain her multitude of disabilities; at times this has been very isolating and upsetting, not to mention very hard to explain to well-meaning friends and family who think it's good news every time a test comes back negative (& there have been some really terrifying potential diagnoses throughout this time so yes some of those not found have been a cause of relief) but the not knowing is a very difficult place to dwell in too.

With kindness, if it has been suggested by Doctors that it's likely your son has a genetic condition, this assumption will not have been made lightly and only with a view to the best interests of your child, yourselves as parents, plus potentially for any of your future children. My eldest DS is now keen for answers to as he and his fiancee are thinking about children of their own.

Historically it has been very difficult to get testing for many families and now we are learning and understanding so much more about genetics and the role they play, not just in the short term but also in longer term health care planning, knowledge is very much power. If a diagnosis does come back, it may even be possible to prevent certain conditions from developing further down the line using medications or even gene therapy. At the very least, it will ensure support is put in place at the earliest opportunity and any scans/tests/monitoring can be appropriately scheduled.

You may get a nothing found result or a variant of unknown significance (broadly they can't be sure what, if any relevance, it may have at the point of identifying based on knowledge to date) and that can bring a whole other host of emotions too.

Having walked in very similar shoes to you, I found those very early years in DD's life extremely difficult and it plagued my every waking (and sleeping) moment. Now that you have been told there is even the possibility of a genetic condition, I think even if you decide not to proceed or to pause testing for now, you may find you can't stop your mind from going to scary places.

If you can, please try and seek support - your GP, health visitor and genetic counselling services should be able to guide you and if you aren't already aware of SWAN UK - Syndromes without a Name please do have a look

I have name changed for this post as my reply is quite identifying to those who know me but I wish you well (sorry this is so long)

If it was me I’d follow it all through. I know it’s tough in you of course it is, but just pretending everything is alright when it might not be isn’t going to help. Try and be strong for your son these tests could turn out to show up something that would really help him, if it wasn’t important they wouldn’t be offered to you, you can be genuinely relieved if and hopefully when they all come back clear instead of pretending.

Sorry you are understandably struggling with this, but in his best interests to fully investigate and ensure he has the best chance for any early intervention and specific, timely support required.

You should take the tests that are being offered. How many other mothers in your position aren't being offered same because of being in the wrong borough. Hopefully your child will pass all the markers but if they don't then at the very least you will be several steps ahead on getting advice. You say you have had tests done privately, that is a different matter i.e. are you taking away from another mother in your borough the chance to have her child assessed. Your mental health doesn't come into this - all mothers and fathers go through issues when their child is ill - step up and be counted and do the right thing for your child otherwise you may find you cannot cope if anything found. If the medical profession feels the need to do more tests then let that happen. This is what parenthood is. Given what this test is, now is not the time to bury your heads in the sand. I wish for your child a clear result but if not, at the very least you are able to be given knowledge of a way forward.

What exactly are you trying to control?

Your son is 9 months old. Even if he has Downs, he's yours for the next 60+ years.

Do you need a prognosis for some UK Gov Benefit money?

Just why aren't you enjoying your Son?

Is he happy?

Why aren't you enjoying being a mum?

No disrespect. But who do you need permission from to stop the testing?

Just be mum. And give him a hug.

You are not supposed to need a diagnosis to claim disability benefit or for child support in school it is supposed to be based on need but the reality is very different and it’s very difficult to obtain either without a diagnosis. The wait times for padiatrics and cahms are now extremely long, virtually all areas are 2 to 3 years and I’ve heard of one area being a 10 year wait! If your child is in mainstream school with no support snd can’t manage it is an awful situation to be in, people end up with their child out of school completely and having to give up work. An early diagnosis of something at least gets you over that initial hurdle, if they don’t need any support they won’t be getting any support as believe me it’s rationed strongly even for kids with diagnosis but if it reaches a point where they do at least you have already jumped through those initial hoops. My child was diagnosed autistic age 6 and luckily in those days pre covid it was only about a year wait but that was bad enough and we really struggled, then it was another fight and tribunal for ehcp. You say child will be hers for next 60+ years which is true but their childhood and school years go by in a flash and you don’t want it to be so traumatic for them and you

I found out that one of my children had a very genetic condition when he was a teenager. Testing of my other children showed 2 others had the same disorder. It is a disorder that usually goes undiagnosed and can result in a very premature death. As hard as it is to deal with, I'm so glad that we know and they now take medication to mitigate some of the issues. Genetic testing is expensive and you might not be offered it again if you turn it down, I would agree to the full test. I wish you and your son all the very best