3 year old girl with epilepsy worsening?

[chmmr]

Just posted our intro in the introduction forums but figured i should post in here too.

I am the mom of a 3 year old little girl with a presumed seizure disorder/epilepsy.

She was born 6 weeks early , with her twin brother, and spent 3 relatively uneventful weeks in the NICU before coming home. 6 days out of the NICU we were in our dr's office for her twin brother and he went to do a well baby check on her and she had her first "presumed seizure". I say presumed because it's been a bit of a gong show the last 3 years and different neuros have said different things from sleep myoclonus, to partial seizures to .....???
The more i read, the more i discover that childhood seizures that are atypical and don't fit a specific diagnosis tend to be frustrating for both specialists and parents alike.


Anyways here's the brief (or not so brief)run down on her:
Had the first seizure at 4 weeks of age (i think a tonic clonic but may have just been clonic-so she was just 39 weeks gestational age at that point), had an eeg within a few hours and it was abnormal ( sharp waves (epileptiform abnormalities) over the right mid temporal with involvement of the ear and paracentral region on the ear electrode paracentral region without clinical accompaniment. ) They were going to start her on meds (phenobarb) right away but wound up talking to the local childrens hospital who said to wait because they felt it could be sleep myoclonus and that the EEG abnormality was just a fluke. We did some testing, including an US to look for bleeds in her brain and all came back normal so we decided to watch and wait
The next number of months went on and we saw questionable events from her, including one tonic clonic in the tub, and bounced back and forth with the ped and the neuro etc, eventually decided to put her on clobazam at 6 months old for "partial epilepsy" (her EEG was still abnormal while on it but much less than it had been so the clobazam obviously helped). Really long story short they kept trying to tell me she was having sleep myoclonus and i said then she shouldn't be medicated. When she turned 1, we did an MRI, a week long of EEG monitoring (continuous) and a lumbar puncture and they didn't see anything (although her EEG continued to be abnormal) and we hadn't seen the "behaviours" since a few months before so we took her off the meds and hoped that the EEG abnormalities were related to her prematurity and as her brain matured the abnormalities would disappear. We didn't have any big events, lots of little maybes but i tried hard to block it all out like they told me to for the last 18-20 months.

As the end of Feb, we had our repeat EEG because she had turned 3-this was supposed to be our "reprieve" and then we would be free of all of this. Not so much-her EEG was actually much worse, and had "Broad based sharp waves almost continuously at T6 and infrequently at P4 and C4 with no clinical accompaniment". When my pediatrician saw the results and said this was not good, that she was either headed for a huge seizure that could cause permanent brain damage, or she would have so much activity that the background activity was interrrupted and she would wind up with regression and brain damage that could be hard if not impossible to reverse and she recommended meds. Then surprise surprise she talked to the neuro at childrens hospital and they said nope let's wait for her to do something so now we are waiting and watching for "weird things" because i guess posterior temporal seizures can manifest in weird ways, especially with kids and now we have to have full neuro exams every 2 months to make sure everything stays status quo.

So i guess my question for you is has anyone ever done this sleep myoclonus fight before? (everything i read says she can't have a diagnosis of sleep myoclonus if she has an abnormal eeg). And if an EEG worsens to the degree her's did, is that really bad? (not sure which doc to believe anymore)

Long enough?

 

[chmmr]

Here's her EEG impressions if anyone is curious

Feb 5:
Impression:
This recording shows one abnormality and that is sharp waves (epileptiform abnormalities) over the right mid temporal with involvement of the ear and paracentral region on the ear electrode paracentral region. This occurs without clinical accompaniment. The remainder of the recording shows normal features for age.

April 13, 2010
Impression:
This recording is abnormal. It continues to show epileptiform discharges in the way of spike-waves over the right paracentral and temporal region. The remainder of the recording during drowsiness and stage II sleep is normal

August 10, 2010 (she was on meds for this one)
Impression:
This recording is abnormal in that it continues to show epileptiform abnormalities over the right temporal and paracentral region, though, this is less prominent than the previous recording.


Feb 7-10, 2011 (childrens hospital off meds)
Impression: During this intensive video/EEG recording, she had sleep myoclonus without any EEG changes. She did not have any staring spells or abnormal eye movements. The EEG background was mildly dysrhythmic and there were occasional sharp waves in the central areas. These interictal findings are non-specific.

May 19, 2011
THis recording is abnormal showing infrequent broad based sharp waves in the right mid temporal, rarely in the paracentral and posterior temporal region

Feb 27, 2013
SHARP WAVES: Broad based sharp waves are seen almost continuously at T6 with some involvement of P4 and C4 with no clinical accompaniment)
This recording continues to be abnormal showing epileptiform discharges in the way of broad based sharp waves frequently at T6 (posterior right temporal), and infrequently at P4 and C4 (which are the posterior parietal and right paracentral locations).

 

[donnajane]

chmmr. HUGS!!!!!!! and welcome I have a 26month old who we first rushed to the ED at 7 1/2 months old. His specialists now think he probably was having seizures a lot earlier but it was misdiganosed as bad reflux. Even though I told his GP he was doing strange shaking movements etc I was told I was basically exhausted from having 3 young children and from having been up with him for weeks with bad bronchiolitis. It took for him to have an event in front of another GP before it felt like anyone believed me. From them on his condition has been changing and altering as time goes on. He had 5 EEG's between 7 1/2 months and around 15months. On each his eye's would flicker or roll back with the flashing lights but very little alteration ont he EEG. On his 5th EEG they found he had a slowing on the back right of his brain. I thought he was so clever to be "right" handed so early around 8month's only to be told around 12month's he had a weakness on the left side of his body which as he got older became more obvious. I don't think anyone was ever sure he would walk as he use to drag his left side when he eventually started to "crawl" just before 12months. But woth a bit of work on his part and on ours and the help of a brilliant osteo he now walks and you wouldn't know he had an issue unless he is tired. At 18month's he had an MRI and I think it shocked a few that he had a brain lesion on his putamen. We were told it hadnt showed up on the EEG's as it was to deep in his brain. They still do not know if that is what is causing his issues or even what it exactly is. He had another MRI at 2 and the lesion is still there and still specialists can not tell exactly what it is.
He was put on Tegretol at around 16 months after we finnally had a camera in the right place at the right time and the nureologist saw one of his more "obvious" event's. In feb this year he was put on clobazan at night to help with another form of seizure he has. His seziure's are varied which is making his diagnosis hard. His nureologsit said he knows he is having epileptic event's but does not know if he has epilepsy but something else they are yet able to find. He is also seeing a metabolic specialist and has recently been referred to a paed Metabolic Nureologist to see if he can work out what is going on.
He has periods of regression where he forgets things he knows ie words, skills such as eating solids, gets confused, does not know how to walk. But thankfully so far he has come back to bring your usual toddler each time the longest one of these strange regression's has lasted was over a day. We have now been given a referal for tests to be done if he stops walking for over 2hr's so we have to take him into the ED and give them the referal. It actually feels almost empowering having this referal.
He has periods were he doesn't feel pain which is horrible as sometime we discover injuries by the blood on his hand or the swelling on his head. Again it's not all the time.
I use to and still do sometimes get really frustrated at why the Dr's couldn't tell me what was going on with him and "fix" him but I now realise he is confusing them as well. My main fear is that one day he won't come back from the "regression" state and I worry if it is metablic which they think it might be that each time he has a longer one of these periods it is doing more "damage" to his little brain.
In saying all this he has the funniest personality, he's a little quirky and makes us laugh so much. We "take in" every day we have with him when he is having a good period and try to comfort him when he is having a bad time. It has been a huge learning curve for us and also for our 2 older children, 3 and 5, who are a bit young still to really understand what is happening.
Sorry I thought I would share my story to let you know where my little man was at and to say that although our kids have different 'results' we are also still on this journey and like any parent have worries and only want what is best for our kids.

I wish you and your family all the best.

Take Care.
Donna

 

[KarenB]

Your child has been having abnormal brain waves since a neonate, and at least 2 tonic clonics, and her EEG is now worse and the Children's Hospital is saying to wait???

This is insane!!

I think I would listen to the Pediatrician, rather than whoever it is he's talking to at the Children's Hospital. I would ask your Pediatrician to refer you to a Pediatric Neurologist who is NOT the one he has consulted with, and get an appointment with that person. Take all your EEGs and other records and sit down with a Neurologist and discuss all these questions you're asking.

I don't know much about Myoclonic seizures, but I do know that nocturnal seizures are still epilepsy.

I would also suggest that you start researching the Ketogenic Diet for Seizures -- this has been a literal life-saver for many children with seizures (including our own). One problem with meds and little kids is that they often interfere with health and development (but the seizures can as well). Some kids have had their epilepsy completely cured with the Ketogenic diet -- seizure free, med free (and eventually can be weaned from the diet). Others of us have seen marked improvement, and have been able to be seizure free with a minimum of medication. About 1/2 of kids respond very favorably to the diet.

When you ask your Pediatrician for a referral, I would try to get a referral to a Pediatric Neurologist who works with a hospital/Nutritionist who administers the diet.

Here's 2 websites that will give a lot of info (and also great support) about the Ketogenic Diet:
http://www.charliefoundation.org/
http://www.matthewsfriends.org/

Blessings and welcome to the forum here! You will find great support! We sure have!

 

[KarenB]

http://www.dravetfoundation.org/dravet-syndrome/medical-information

The link above is a site that will give you information about Dravet Syndrome. Some of the symptoms you are mentioning hint at Dravet. For one thing -- the tonic-clonic when baby was in bath -- this sometimes happens with Dravet -- especially sensitive to cold and heat. And the myoclonic episodes beginning in infancy.

You especially want to discuss this with Neurologist, because if this is what your child has (and I hope it isn't), there are certain meds that actually make the seizures worse (including Tegetrol, Lamictal, and Trileptal). The Benzo meds work fairly well, including the Clobazam she was on. Dravet Syndrome responds well to the Ketogenic Diet.

 

[chmmr]

Thanks for the welcome Karen. It's definitely not dravet. (thank god). I have a friend whose daughter has it and we have the same pediatrician so our ped is very familiar with dravet. (and actually the ped neuro is the same as well) We have had no prolonged seizures (always well under 5 minutes), absolutely no developmental delays etc.
Unfortunately it is a Pediatric Neuro we are seeing (and really one of the only epileptologists left there because they recently had a couple move away) and she is the department head at the only childrens hospital anywhere close to us (and it's still 5 hours away). Because we are in Canada and that's the only childrens hospital in the province, our hands are pretty much tied.

I completely agree that they have to be nuts-they don't deal with day to day stuff as much as non specialist pediatricians so maybe development problems and brain damage aren't a big deal to them but they sure are to us! (and this neuro has thought i was the "crazy mom" and that my daughter didn't have epilepsy since the beginning and that it was all related to a preemie brain and she would outgrow it by the time she was 3)

And since my daughters activity is all temporal lobe and she is only 3, it's pretty hard to get an accurate asessment of whether or not she is having seizures that are "typical TLE" seizures.

I did discuss it with my GP at a visit i had on this past friday for me and he was furious that they might let my daughter lose skills or have a huge seizure before they would put her on meds and basically told me that when childrens says "no" then the pediatricians hands are tied. He then told me that his aren't though and he was going to have a conversation with our pediatrician to see what she "really" thought not just the PC line i was being fed because he said he was more than happy to write a prescription for meds with the pediatricians blessing.

I think at this point i would rather risk some of the side effects of meds and see if clobazam decreases the amount of activity we see on her EEG as it has in the past (i know we don't "treat EEG's" but in a situation like this with TLE where you could easily be missing stuff with a young child and where the EEG's have progressively got so much worse, my gut says we need to-and that's saying something since i fought to get her off meds previously ), and risk the med side effects (because of the early seizure we are already connected with early intervention services in the community and she is being monitored bc of the original seizure) than to risk brain damage or regression (both of which i was told they may not be able to reverse) on a big maybe. Hubby and I are not sleeping well because even though she sleeps in another room with her twin brother, we go to sleep and wake at every bump or noise we hear from their room wondering if she is ok or if she is having a seizure. Makes for a very tired mom and dad.

 

[KarenB]

Our son also has temporal lobe epilepsy, and he was also a preemie. He didn't outgrow them -- at least not yet (he's 9). He has tonic clonic and tonic seizures, starting just after his first birthday. We've been able to get them under control for long periods of time (a year or more) with meds and/or the Ketogenic diet, but then he has these relapses, and everything gets really horrible, and then things settle down again. Right now, he's in remission again.

Jonathan also has Down Syndrome, so there's already developmental delay. But, some of the meds have caused cognitive issues as well -- the worse being a high dose of Topomax (low dose no problem) which robbed him of his speech. Depakaote (Valproic Acid) put him in Zombie mode for 6 months, and harmed his liver. Some of the other meds caused bizarre mood swings and violence (Keppra, Diazepam). He's currently on Zonegran, which isn't causing any too horrible side effects except we have to watch for acidosis. And he's also on the Ketogenic Diet for Seizures. We were able to be med free for about 6 months in 2012, but then he started having seizures again, so that's when he went on Zonegran. We do have Clobazam here at the house, but right now it's a rescue med, not a daily treatment. But a lot of Canadian families seem to like that med (apparently the version available in the US isn't as good, from what I hear).

I hear what you're saying about sleeping at night. Jon's seizures are often in the wee hours of the night, so for now he's in our room -- he's got his own bed. In the past, we have used a baby monitor when we let him sleep in his own bedroom.

 

[chmmr]

I definitely know there can be a lot of issues surrounding the meds. Clobazam is one i am comfortable with though because she was on it for almost 8 months as an infant and never had any obvious side effects at all even on the max weight based dose for her. It does seem to be a go to drug here in Canada-maybe because it has been working so well? I didn't realize it could be used as a rescue med.

I'm so sorry to hear about all Jonathan and you have been through-that is a really rough road for sure. I hope he stays in remission for a really long time this time!! I had Jenna in my room until she was 18 months old (when they told me to ignore everything) and then she seemed quite happy to sleep in her own room so i figured why not. She now HATES sleeping in our bed at night (although will nap with me and her twin brother in my bed no problem). One thing about her is she is so loud i don't even need a baby monitor.