We are considering extensive genetic testing for our 3 year old autistic daughter. Specifically, we are thinking or doing WES or WGS testing. Does anyone have any experience with this?
At the moment, we don't really know where to start with this. We'd like to know more about the cost, the benefits in terms of personalising therapy and biomedical treatments and where to do it (what company?).
I mean your doctor will be aware that there is absolutely no evidence that gluten-free diets have any beneficial effects in regards to autism. So a certain degree of scepticism on their part is reasonable. There is however some evidence that gluten-free diets can benefit patients who have gluten sensitivity / coeliac disease and epilepsy. I imagine improvement you might be seeing is probably due to the remission of seizures.
since your doctor doesn’t apparently believe the seizures are real but rather fictions of a nursery nurses imagination it’s going to be hard to persuade him to take your dietary intervention for epilepsy seriously.
he probably just assumes you’re another parents desperate to put their autistic child on a fat diet for which has no medical evidence. It is I’m afraid all too common your parents feeling out of control to reach out for any questionable study they can implement at home which usually means dietary interventions.
however epilepsy is a weird condition where there is a long history of dietary interventions actually having an effect all the way back to the ketogenic diet.
drugs are so good at controlling epilepsy these days that doctors don’t really believe seizures happen until they see them. or they often tend to assume they’re not as bad as they actually are. I have a friend with uncontrolled epilepsy even with the most powerful drugs she still has seizures regularly. She even had a seizure so severe that having fallen on the pavement next to the road she then had a convulsions so violent its sent her spinning into the road. Her own doctors didn’t believe it until they saw the CCTV footage.
Hi, thank you for taking the time to reply to my post.
As I mentioned in my response to Peter, the doctor in question was rather shockingly an acute paediatrician at a university hospital and I have even considered making a complaint about her. Anyway, my daughetr's seizures have thankfully stopped after we started dietary interventions under the guidance of a specialist nutritionist. We also did EEG which appeared normal so the chances are that some biochemical imbalances were perhaps causing the sudden seizures. We'll see how things progress but I will definitely seek the advice of a good private neurologist if the seizures return. By the way, as we only witnessed one minor seizure at home and the more serious ones all happened at the nursery, the doctor suggested that nursery staff perhaps confused my daugher's tiredness with a seizure and that was despite the fact that I told her that my daughter's key carer in the nursery has a daughter with epilepsy and very likely knows how to recognise a seizure ... In fact, the nursery staff were so certain that she had a major seizure that they immediately called an ambulance. It's shocking, but unfortunately, it appears that there are doctors like that working for the NHS ...
Hi Peter, thank you for this suggestion. My daughter's seizures have stopped for now, which makes me think they were likely related to biochemical imbalances in her body possibly caused by GI issues as there is a direct link between GI health and brain activity but if they do return, I will take her to a private neurologist. At the moment, we are trying to address her GI issues with a specialist nutrition clinic and are already beginning to see positive response in terms of longer attention span, less anxiety and improved sleep so fingers crossed this will continue.
The doctor that was so dismissive of us was an acute paediatrician at a very renown university hospital in England ... I'm afraid, it appears that the NICE guidelines are not always followed as my daughter was never referred to a neurologist.
Hi, I am agreeing with Peter here. While there are specific genetic issues that cause specific medical issues, probably including seizures, these don't tend to be tested for with Whole Sequencing methods and I'm not sure under what grounds this would be useful clinically. Again with personalization, although there are some treatments that are beginning to be personalized due to genetic testing, largely when it comes to cancers, these tend to be done through cheaper specific tests rather than WGS.
I do definitely agree with Peter that the seizures should be further investigated, asking for a second with a different GP is definitely a good idea here, and specifically bringing up wanting to see a neurologist should be considered. Different medical fields have different meanings for 'watchful waiting' which is a legitimate medical technique, but if your GP isn't giving you signs to be looking for, or giving you red flag signs to look for, what he's actually trying to get you to do is 'ignore and see if it goes away'.
Epilepsy is the most common seizure disorder, but there are many others, and seizures can be really dangerous. This is definitely not a situation to be ignored. I'd ask to see a different GP.
I find that surprising. I’m assuming your doctor is a GP? I’m not an expert on epilepsy, but I took a quick look at the NICE guidelines and they seem to suggest The children with an onset of seizures should be referred to a neurologist as standard.
epilepsy is a totally different beast from autism even though statistically autistic people are more likely to also have epilepsy. With epilepsy there are lots of medical interventions that can be considered. And one of the things you should be aware of is epilepsy can in rare cases cause autism.
specifically severe epilepsy can cause brain damage. And while most autism is purely developmental, that is a consequence of the way the brain has naturally grown and functions, in rare cases brain damage can cause people to develop autism like symptoms. Temporal lobe epilepsy is particularly noticeable for this and the temporal lobe is where the language centres are.
so what I would say is this. It seems to me your child probably should have been seen by a neurologist when she was having seizures. A trained neurologist looking at your daughters brain scan it’s going to be able to tell you more about her autism and more importantly far more about what was causing her seizures than a genetic test.
if you’re going to put a lot of money into something I would say an appointment with a neurologist is probably more productive for you then genetic testing.
Hi Peter,
Thank you very much for your reply. I really appreciate your advice on this as it seems like you really know what you're talking about.
I just want to clarify, this isn't so much about curing my beautiful, precious daughter of autism, but more about doing everything we can as parents to help her achieve her full potential and give her a chance to live a content, independent life one day, hopefully. At the moment, she appears sad and anxious a lot of the time despite our best efforts to help her thrive and as she is non-verbal and her communication skills are extremely limited, she is unable to let us know what is wrong when she's sad and tearful and it is absolutely heart-breaking for any parent to see your precious 3 year old like this and not be able to help.
To give you an example of how 'helpful' her current doctor has been, when she experienced unexplained seizures, the doctor pretty much told us to adopt a wait and see approach after the rather basic tests did not show any abnormalities instead of investigating further, and when asked if she could have GI issues that might be impacting her overall health and contributing to seizures after she experienced a very long period of diarrhea, the doctor told us that since her tummy is soft (!), there's no need for tests and she's likely just having 'toddler's diarrhea'... Btw, we have since removed gluten from her diet and her diarrhea resolved within 24 hours (!) for the first time in a year. Incidentally, her seizures have also stopped... So, no, we don't feel like there's any point discussing any new tests or treatment with her current doctor ...
Anyway, thank you for your very informative response - I really appreciate it.
I’d strongly consider saving your money and doing neither. At least not if your only reason is autism. There isn’t enough understanding of the specific genetic underpinnings of autism yet to even be able to create a diagnostic test based on genetic mutation. There are a few very specific conditions that can cause autism like symptoms because of single gene mutations but you don’t need whole genome sequencing to test for those. it can be done much more cheaply.
even if you could get a list of the handful of autism related genes your daughter might have for the vast majority of genes there is going to be no established therapy that can reliably target them and for the few for which there might be an off label drug that could affect them there is no guarantee that that would have a positive effect or any effect at all on the autism.
whole genome sequencing (or whole exome sequencing) is interesting in autism research but it’s not in a clinically useful stage for autism treatment at this point. On top of that really autistic people don’t want to be cured. Now if you’re worried about your daughter being intellectually impaired as far as I’m aware the best evidence for improving intellect in autism suggests an intellectually stimulating environment with loving and understanding parents.
if you really want to understand the difference between whole exome sequencing and whole genome sequencing I can explain it. I have an MSc in bioscience after all. Which in itself is proof that autism need not be some sort of intellectual death sentence. But in terms of your daughter I don’t see a short-term benefit.
if you’re really determined to do testing it’s better to look for well-known conditions that present in an autism like way like retts syndrome or fragile X. but in all probability your daughter doesn’t have those. But if she did there tend to be other complications you could prepare yourself for.
and after all is said and done you should speak to Doctor who has examined your daughter and ask his opinion.
