Have you ever said no to a doctor/paediatrician?

[Opal93]

A few years ago, when my son had his review by his paediatrician (he has ASD) she wanted to refer for genetic testing. I refused as a. Even if they did find something, nothing can be done and won’t change anything and b. The cause of autism is unknown so I didn’t want him poked and prodded when it can’t even provide answers for certain. She wasn’t very happy about me refusing, and also at the time his head circumference wasn’t following the chart on the centile so he was referred to a more senior paediatrician, who monitored its growth for a year and then signed him off as she was happy with it. It really badly effected my mental health at the time, I became convinced he had everything from Zika virus to a stroke in utero. He also absolutely hated the investigations and it was traumatic. I was so happy when it was put to bed, but I recently asked for him to be referred back as he’s six and needs OT and possibly referred to CAHMS and I had to refer him fo the paediatrician again as that is the only way to get access to these services where I live. I am also starting to feel anxious that they will push genetic testing/start the head circumference thing again. WIBU to make it very clear that i am only there to get access to the services to help him with the challenges he faces now due to his autism, and that I really don’t want to go on a fishing expedition for things wrong/causes? I appreciate some people would like genetic testing, but my personal view is to just accept what is and deal with the problems it brings. I am autistic myself and I felt so guilty for a long time that I “gave” autism to him. If I found out there were genetic faults that came from me I wouldn’t cope well.

My son has severe autism and learning disabilities,we did have genetic testing and they found an underlying chromosome deletion,you are right it doesn't change things ,but it did give us some answers ,there is no right or wrong answer though ,I guess they can use it in research ,I'm glad we had it done ,but it's just a personal choice

My DD is undergoing genetic testing, for completely different reasons but I think you have every right to say no. If you're happy to deal with the problems he faces and don't want to go digging for a cause then absolutely say no.

I have said no to a doctor for something different and it does make you question yourself. But as long as you're not putting DC in danger (rejecting serious medical care) then it's fine and a personal choice.

You are correct that the paediatrician is the caretaker of those other services. However, you should not be pressured into these further investigations if you do not wish for them. Does you son have a definite diagnosis of ASD because he is likely to get more help if he has but it does not preclude it and you should push hard for what he needs.

Good luck

Honestly ,though as a parent it's your right to refuse if you don't think it's in your son's best interest .

My son has ASD and the paediatrician offered genetic testing but actually suggested it may be best not to go ahead with it as my son was so distressed by the other checks (getting weighed and measured) and he had no physical indicators.

Doctors etc may offer a procedure or test. You don’t have to accept.

I absolutely would allow testing if it was for a serious health condition that needed treating, but not just to know a cause of his autism. Although I do understand why it would be important to some people to know those answers especially if considering more children. The head circumference thing I agreed to the investigation as of course if he had something wrong with his brain that could possibly need medication or surgery I would never refuse that but the doctor who investigated that said she wasn’t too worried as even though his head is relatively small, she thinks it’s most likely just variation and nothing wrong, and even if he did have microcephaly there’s nothing can be done. After monitoring the growth she discharged him as she was happy. What would be a good way to tell them I don’t want to go down that road again after it was put to bed ? Asking because I’ve ASD and find framing questions difficult

I have a few times. I have found it easier when they're older, as in they don't tend to push back as hard once you've said no, though there are always the outlier doctors there. My DS1 hated investigations too and we stopped them as it felt like we were going 'round in circles.

I wouldn't pre-empt it as it may not come up at all, but stick to your guns about looking for help with services, not a fishing exhibition.

Gosh it must be so hard to be raising children in this era

I think it's completely understandable. There has to be a clear benefit to the child.

Sometimes, genetic testing has the potential to raise the possibility of other associated problems, allowing these to be checked for or monitored for and treated or managed early if they occur.

However, most such things are still detected clinically, often by an association of small anomalies or slightly unusual appearance.

Please don't let worry about "what ifs" prevent you seeing the doctors who are there to help you help your son. If they do suggest investigations, ask them to explain to you what they are looking for and what might be done differently if they do or don't find it. Then you can explain your concerns about putting your son through experiences he finds unpleasant or worse. I would hope that decision making will be by mutual agreement here. And sometimes the answer may be, fair enough to not investigate now, but the offer is there to consider in the future when he is older or if anything else changes. Paediatricians do know that parents, mothers especially, very often do know their child best. As children with difficulties grow up, this becomes more and more true.

For some parents, it helps to know that there is 'a reason why' a child has difficulties; for others it may not.

Very best wishes for getting the support you need to help your son be the best he can be.

The genetic testing is part of the differential diagnosis for autism. There’s some conditions such as fragile x that look very similar to autism, particularly in little ones, but have a genetic cause. Genetic testing isn’t really to look at the the cause of the autism it’s to rule out some other things. Some genetic things (eg fragile x) are very likely to also effect siblings or sibling might be a carrier so it’s also useful to know from that point of view.

Genetic testing is probably less likely to be offered now he’s older but maybe this is a case where an open mind might be needed. It might be something as simple as a blood test that could pinpoint or rule out a cause of the difficulties and therefore lead to better support for your child in the future.

Honestly I would just say thanks but no thanks ,also if the blood test is going to upset him and can cause him to be distressed I think that's a good enough reason not to ,as you say it doesn't actually change anything.

I have but not for something like this. I have a line prepared for these situations, something like "thank you for the information, I understand what you are saying and have taken it on board, however I am going to decline at this time for x reason". They always seem happy with this. They are mainly worried that you will later sue and claim you were never given the option, so you basically just need to explain that you know are being given the option and have made an informed decision.

@Busygoingblah

The genetic testing is part of the differential diagnosis for autism. There’s some conditions such as fragile x that look very similar to autism, particularly in little ones, but have a genetic cause. Genetic testing isn’t really to look at the the cause of the autism it’s to rule out some other things. Some genetic things (eg fragile x) are very likely to also effect siblings or sibling might be a carrier so it’s also useful to know from that point of view.

Genetic testing is probably less likely to be offered now he’s older but maybe this is a case where an open mind might be needed. It might be something as simple as a blood test that could pinpoint or rule out a cause of the difficulties and therefore lead to better support for your child in the future.

My son has 16p13.11 micro deletion,he also has a diagnosis of autism and learning disabilities,the geneticists think this is the chromosome deletion is the underlying reason for it

I know an autistic boy who's genetic testing explained his leukaemia, and allowed them to treat it remarkably efficiently. It's worth doing IMO but not to the detriment of your MH.

@x2boys yep, exactly. As well as conditions that look similar to autism there’s lots of chromosome abnormalities mean a child is far more likely to be neurodiverse, have language difficulties or learning. Obviously it’s a choice whether you want to know this or not but I can think of families where knowing/ understanding the genetic link has been really helpful.

I would get the testing, genetic tests may reveal a condition which is associated with other health problems, which they can then monitor, detect and potentially treat earlier. I understand your reasons why, but they seem to be centred around your guilt of “passing it on to him” when you need to be thinking about what’s best for him not what makes you feel better. Sorry if that sounds harsh, but I’m a HCP, so I see the other side of it.

You always have the right to refuse treatments or tests for you or your minor child. The only way treatment can be forced is via a court and obviously this isn't a matter they'd take to court. I've said no to treatments or asked for more information or time to make an informed decision both for me and my DC. 3 Autistic DS in our family, I wouldn't put any of them through a test that wasn't medically necessary as I know the distress it would cause them. This is what's right for us in our particular circumstances. I'd want to know why a test would benefit my child before I'd consider it. I wouldn't raise it though. I'd focus on advocating for the supports your DS needs and if it comes up address it then. Something like, you don't feel testing will benefit your child and it's not worth the distress he will be in, that you want to focus your time and energy on getting him the supports that will benefit him.

It might help to write down why you need these particular supports so that you cover all the relevant details. I tend to forget some points otherwise. Also helpful when the day of the appointment is one where my DC is already struggling. Last paediatric appointment it was all I could manage to speak a few words to our paediatrician, because DS was struggling so much that day. I resorted to giving him my list of concerns while I had to take DS out for a bit. Worked well in the end.

We were offered genetic testing as we have 4 autistic children and I’m autistic. We accepted as part of ensuring there wasn’t anything else going on - although it wouldn’t of changed anything from a family planning point of view < already had had all 4 > it could of thrown up other difficulties / diagnoses that would benefit from other treatments etc. As it happens it showed one child has a chromosome disorder that effects growth which was so helpful to know as although at the time he was just considered small due to prematurity we know now that it’s the chromosome deletion

Sometimes, genetic testing has the potential to raise the possibility of other associated problems, allowing these to be checked for or monitored for and treated or managed early if they occur.

Agree. It was the first step for us when diagnosing our oldest with asd. Our oldest showed signs while his younger brother didn’t and we needed to know to prepare in case for his brother or any child we have in the future. My husband suspects he has high functioning asd or some sensory issues yet nothing showed up on his genes while there was a part of a chromosome missing on my side that they had never seen before and didn’t know what it did or meant. Since I didn’t have any signs of ASD, sensory issues, cognitive issues, abnormalities, and anything else and that includes my immediate family, they determined that wasn’t a factor for his autism, leading to the likelihood being from environmental factors and issues during his birth.

I have said no to doctors before during my first pregnancy and I was ignored and coerced into a medically unnecessary procedure and it went tits up. I did it again in my second pregnancy and I was listened to after what happened with my first and having doctors who actually gave a f**k about consent and willing to work with me.

Of course you have the right to refuse treatment. But I don’t think it is fair to your child to refuse because of your own anxieties. What is in his best interests? Those might have changed since he was a baby. If it’s a blood test it would be significantly easier now. Having watched blood taken from my own babies I have to agree it isn’t worth the stress on the baby unless serious/immediate issue. But I’ve also seen same child have blood taken at 4 and the whole thing is so so different and less traumatic all around.

If the cause of your anxiety is the constant investigation, wouldn't it be simpler to take the testing and know that you can move on?

Is there any reason to think the results of the test may impact the type of treatment he is given? I don't know the area but I would guess that if a specific diagnosis results in different methods of treatment and support being provided, that it could be in his best interests to be armed with more knowledge.

Greygreenblue I know what you mean and I do feel guilt about that because I’d be lying if I said it wasn’t partly because of my own anxieties. But I just didn’t think it was in his best interest based on what the paed said, she definitely seemed to think the main benefit would be for us making decisions re future pregnancy etc and actually said “nothing can be done for him”. I agree that for a typical child it would definitely be easier at this age but not my son because he is older and can fight more and absolutely hates being touched, he won’t even let a dr take his temp! He would likely need to be sedated just to take blood

Totally respect your choice, OP. However, I really wish this had been offered to our dd many years ago.

Our dd is now an adult and has sld, severe asd and a somewhat strange form of epilepsy. It is strongly suspected she has Dravet syndrome.

One consultant put forward a request for dd to have genetic testing when she was 20 years of age but, when we attended the initial appointment with the geneticist, he refused to do the tests due to cost and it not making any difference to dd anyway as she had lived well beyond the age when Dravet syndrome is most life threatening. 🙄

We now have to advise everyone she has "Suspected" Dravet syndrome. It would make life considerably easier if we had confirmation with regards to treatments and medications now she is an adult.

I am also starting to feel anxious that they will push genetic testing/start the head circumference thing again.

YABVU if your child is ill the best thing to do is get the treatment as early as possible.

From what I know (I may be wrong) the genetic testing is a blood test and the head circumference is a simple measurement - which is hardly traumatising and could extend your DCs life/give them a better one.