Absence seisures / Reflux

[onestressedmum]

Hi, this is my first post, so please be gentle :-)

My 2 year old daughter has a rare genetic condition and has recently developed what might be absence seisures. The complication however is that she also suffers badly with Reflux and the doctors have mentioned the episodes may be due to this instead.

Does anyone else have any knowledge/experience of this? Any advice would be appreciated.

Thanks

Wendy

hello, i have a ds, also 2, who is being tested for genetic disorders (was your dd diagnosed at birth?). He has always had blank moments, which his paeds said could be absence seizures, he has also had seizure like episodes at night (although this could be him choking on pooled saliva). He also has severe reflux, and although it has been suggested that this might cause the nighttime episodes, they have nevere mentioned reflux in relation to the blank periods - is there a reason why they think they might be connected?

Is your dd on medication for her reflux? Has she had an eeg?

Welcome to the sn boards - this is a gentle place!

My friends baby boy has seizures due to reflux so its not too uncommon

Hi, thanks for the reply. Sorry to hear your ds has some of the same issues...my daughter was small at birth but wasnt initially diagnosed with any genetic condition. The docs did investigations and diagnosed her condition just before her second birthday.

She is on medication for reflux which helps, but she still suffers, esp at night. She had an eeg last week and we are waiting on the results.

Im not totally sure about the reason the peads made the suggestion they were linked. It may be because I mentioned that when she is having these episodes, its like she is trying to swallow something down. once she appears to manage this, she coughs and is back 2 normal - apart from being a bit sleepy.

Im just hate not knowing when the next seisure will come, scared 2 turn my back on her!

Does your little one have any pattern and have the docs given u any practical advice?

Thanks, thats useful to know. just wasnt sure how common it was

The blank moments are really, just that, he is just 'not there' for a few moments, and you can click your fingers and wave your hands around but his eyes don't react. The night time thing is different - he will scream, but it is a very particular gargled scream, he goes rigid (he has very low tone, so is normally quite floppy), and clammy, one side of his mouth goes down, his eyes are open and bloodshot, and he takes up to 10 minutes to come out of it. He has had an eeg, which was all clear, but his paed said that might be because he hadn't had one of these episodes for a while before the eeg. It seems to us that he is choking, whether on refluxed acid, or pooled saliva, as he drools a lot, i don't know. But the fact that the side of his mouth drooped down, led the paed to think it could be a seizure, triggering a choking reaction.

The only advice we've been given is to hold him upright and vigorously tap his chest and back to encourage a swallow, we have been advised to go on a resuscitation first aid course, and if we are in any doubt ring 999.

Touch wood his reflux has improved a lot, since switching to domperidone.

It is a strange limbo, not having a diagnosis, although the geneticist is pretty sure his issues have a genetic cause. He is being tested for kleefstra syndrome at the moment, but i think it will be a long wait for the results. If these are clear, the geneticist has asked if he could be part of a longterm genetics study.

Thanks for all the info, and im glad 2 hear things are improving. fingers crossed that the genetic testing gives you answers. We've been on that journey too, and part of you wants something to be found so you have a reason for things being the way they are but the other part doesnt want anything found. I found it so difficult.

Thanks again for the chest tapping advice.

We used to blow a puff of air into dd2's face to stimulate a swallow... It was never anything we were taught by medical professionals, but it did seem to work for here as it triggered the reflex (she was born with no swallow or gag reflex). I'm not advising it as such (all of our kids are different- dd2 has cp, rather than a genetic condition, but we went through the reflux years and the sz thing, and what was dx as night terrors) but it did work in our particular case.

I wouldn't use it during a choking episode, obviously.

Hazy, do you have a suction machine at home to get rid of excess saliva? Dd2 used to turn blue because it pooled in her throat (and she had no gag reflex, so it was completely silent). The scariest thing in the world. Fortunately we are well past that now, but my heart always goes out to others in the same situation.

Usual advice for 'is it a sz' is the cotton wool ball test, and trying to catch episodes on cell phone to replay to neuro.

(on a slightly different topic, how does chest/ back tapping stimulate a swallow? Genuine q.... We were advised to do lots of chest physio type stuff, but largely to keep chest clear of saliva etc, haven't heard of tapping techniques to stimulate swallow?)

Ah I had forgotten the cotton wool ball test!

We haven't got a suction machine, as apart from these episodes ds doesn't seem to struggle too much with the saliva when lying down.

Tbh the chest tapping advice really came about because of a chat with the physio when discussing chest physio after yet another chest infection, she wondered whether lying him across lap and tapping his back could help with making him cough - I think she was just at a bit of a loss as to what to suggest. It is quite a while since it has happened, but it does feel as though we just have no plan when it does happen.

Now I feel like im missing something!! - can one of you lovely ladies enlighten me about the cotton wool ball test is?! :-)

Thanks for the advice. I keep hoping that she wont have any more issues, but she was really tired the other night and had one. I'll try blowing on her if it does happen again, as a cough seems to be what brings her out of it. Is yourdaughter very sleepy after a seisure?

Sorry, it was me that muddied the water, bringing ds's nighttime episodes into it, which are chokingy,swallowey, screamy, swallowy things - rather than absence seizures (he does have odd blanknesses, but they have never been confirmed as absence seizures). Zzzzz, do you know if having a clear eeg means that it is very unlikely that ds is having seizures? (sorry to hijack your thread - onestressedmum!)

The cotton wool test is a very scientific test which involves throwing a ball of cotton wool at your dc when they are having a suspicious blank moment!

Ds is in nappies (he's 26 months), so who knows!

I thought that was the case with the eeg. They only happen at night, so difficult to know whether he is tired afterwards, but he is tired a lot throughout the day anyway.

I might buy myself a pretty notebook and pen, to forget to write in!

Ok, ready to put hand down nappy -mmmm.

I always say afterwards to dh that we should film it, but we are usually running around like headless chickens at the time.

I do wonder about his constant tiredness, he is always tired, and often has clammy cold moments when he is blank.

Absence seizures only last a very short time and dcs are usually not aware of anything happening. It may look as if a dc has "gone blank" or "nodded off"
for a few seconds. I am unsure of a link with reflux and seizures depends on what type of doctor told you this - was it a neurologist, geneticist or other doctor. The causes of epilepsy are not well understood but there are some genetic conditions that are linked. It may provide another clue as to which condition your dc has. However if there are any other types of seizure activity e.g. jerking limbs, twitching, falling over etc. then this is more than just absence seizures and the doctors do need to be informed.
The eeg test may be used to help diagnose epilepsy (but some children such as my dd have a normal eeg and still have it ) but it is not completely reliable. It is also possible to "grow out" of epilepsy and this happened to another member of my family so it's not all bad news.
HTH and that you receive a diagnosis soon

Try looking up sandifers syndrome

Hth