Rare mutation - is a cause for learning difficulties and autism?

[Lesley25]

I’m struggling with this. My son has autism diagnosed at 2 and suspicions he may have epilepsy also (1 seizure last year which is questionable as he had an infection) and we were referre for genetic testing by GOSH. Results back says he has a mutation and this causes autism and mild to severe learning difficulties and is an epilepsy gene. But may cause epilepsy.
I’m not willing to medicate based on this but I’m torn and thrown by this. Likelihood of developing epilepsy is higher because he has this mutation - epilepsy encyclopathy i think she said.
I’m waiting for the paperwork.
In one way of course it explains my sons difficulties but I’m struggling because it eliminates hope that he will progress.
Any advice would be welcome x

How old is your son Lesley ? I don't know much about Epilepsy Encyclopathy but having a quick read on Google. This is something they have in early childhood- I haven't read it can develop in older children.

Even though your son has the mutation, it may not develop into Epilepsy.

Did GOSH suggest counselling prior before the genetic testing ? If not, ask for one, I think it will help you.

Personally, I think you should focus on the present. Your son hasn't had another seizure since a year ago. Which is a long time. The mutation causing mild-severe learning difficulties- meh. I don't think this should be an indicator to see whether a child progresses or not. I wouldn't let this worry you. If you are concerned about the Epilepsy- and I know some Mums-netters don't agree- but I would look into diet---specifically the keno..something diet. I also agree with you and will not be willing to medicate based on the genetic results. Are you able to contact an Epilepsy charity ?

But please don't worry. It's easier said than done. Take each day as it comes.

Ketogenic diet

Thank you notgiving, my son is 10.
You’ve been replying to my posts all these years and your words always resonate.
I value your opinion so thank you. I will look at that diet, it’s something I’ve read up in lots and it rings true in lots of ways as his diet is mainly ketogenic. As a qualified scientist myself, albeit a long time ago I’m able to separate the science easily but you’re very right- meh, the results state something I’ve known about but does it change how I feel about him or how I care for him? Nope.

We still know so little about the human genome. We know that mutations of certain genes indicate a predisposition towards epilepsy (or cancer or whatever) but this is not the same thing as a diagnosis. I definitely wouldn't medicate for epilepsy based on this (plus one questionable seizure).

It's normal to feel upset by this kind of information, and to know that your son's genes aren't 'perfect'. Give yourself time to process it.

They mean epileptic encephalopathy. Unfortunately, its not something specific to young children. Its a description of quite a few syndromes, which may carry on into adolescence or adulthood. Did they do an EEG, and what did it look like?

However, as a PP has said, just because DC has the genes, it does not mean he will develop whatever. It depends on how the genes are expressed.

Thank you everyone. 2 EEGS one sleep one and no seizures noted.

Yes, but did the EEG look normal?

Hi Lesley

Thanks for your post. It was really sweet. I'm glad my advice resonates with you. I've had a full read of epilepsy en....... I think my DS had this when he was a baby- but they called it 'Infantile spasms'. It was just the once and I've never seen it again.

It more common for very young children to have epilepsy en...... and they usually outgrow this by age 5. It's not common for it to develop it through teenage hood/ adulthood. But it' possible but not common.

I believe we all have some mutations..which are not triggered..yet...or may not trigger at all.

When you get a chance to speak to the doctor who requested these tests. Ask as many questions as you can. Come on here and give us an update if you feel you ever need some support.

Yes- the eegs both looked normal.
I’ll ask a zillion questions when I see the doc in jan but I’m glad I have all your opinions re medication. When all the evidence points to no seizures (the one a year ago happened in school so it’s quetsionable as he has an infection so could’ve been a high temp) I’m not medicating. Unless he says something otherwise in jan.
I’ll update here.
The bottom line is that there isn’t any medication that can help the learning disabilities anyway and I’ve never seen him have a seizure.

My dd (now 14) has a genetic abnormality that can lead to autism, epilepsy, weight gain and learning issues amongst other things. She has autism, speech issues, learning issues but no epilepsy, no weight issues. I belong to a couple of facebook groups for parents with children who have the same genetic deletion and it's true that many of our children have some problems and not others that are associated with this. I agree with you that I wouldn't medicate him unless you have evidence that he actually needs it. We learn more about them as they grow and develop and we adjust to their needs.

Have you seen the Unique website? They have info about many genetic issues and may have more details for you about what you might potentially be dealing with.

Thank you, I’ll check the website out. I think I need to just start looking for people who have this deletion or a group.

Hi my son has a rare chromosome disorder he also has autism and learning difficulties not everyone with the same disorder have this but many do including other condtions which ds doesnt have i think it makes people pre disposed to certain conditions,we are members of UNIQUE if you are on facebook they can add you to their secret groups they also have regional group s .

Thank you

Lots of paticular deletions have their own facebook groups if its a 16p.deletion there are quite a few groups .

x2boys - that is what DD has 16p11.2

D's has,16p 13.11 deletion