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Epilepsy or misdiagnosis?

Sat, 11/10/2018 - 12:37
My now 3.5 year old was diagnosed with epilepsy in June, 2017 @ Tufts Floating. She was diagnosed after three "episodes" I was certain were seizures in her sleep and a) an abnormal EEG (consisting of spikes and waves, apparent during drowsiness, sleep and flashing lights) b) cafe au lait spots on her body, and c) her father's diagnosis of epilepsy. However, I brought her to Boston Children's for a second opinion as she had two failed AED's (Keppra and Lamictial) and the level of care at Tufts is 3 vs. Boston Children's which is 4 regarding pediatric neurology, specialty in epilepsy care. So I was certain we were getting better care. BCH's neurologist's plan after reviewing her history, etc. was to change her to depakote. We did that. She continued to have "episodes" We had a 7th EEG (ambulatory, this last one - She's had two one-hour ones, a sleep deprived, an inpatient VEEG, an inpatient VEEG with the decrease in lamictal (which showed a significant increase of spikes and waves when the lamictal was wearing off)...) It is my understanding (and I have not gone through her medical records at Tufts in detail yet, but I do not think that a seizure has EVER been caught on any of the 7 EEGS. She has had a clear MRI. However, I was told that there was enough information based on the abnormal eegs, the sport, the family history, etc. for the diagnosis. Genetic testing showed that she is mosaic for a variant in the gene (GAB.... I don't have the full name with me), however "the pathogenic role of the gene change would be further supported if it arose de novo" (I think her father's results would show this, which we do not have yet... if ever (he has never met his daughter/uncooperative). We have an appointment with an epileptologist in March '19. What do I do in the meantime? Her follow up at BCH with the near is not for 4 months (not even scheduled yet)... They are keeping her on her depakote, they increased her rescue medication. Does she have epilepsy? I'm told, maybe not. Is she having seizures? I'm told, maybe not. So why the rescue meds, why the continuation of depakote - without discussion of tampering off? I spoke with the social worker for about a half hour after the appointment and let him know that I was completely overwhelmed... when the neurologist came in to speak with me (and it's just me, single mom) my daughter was a bit upset after just having had her leeds removed, I was fumbling to turn the wifi on her tablet on so I could focus on what he had to say. I pulled out my laptop ready to take notes so I could review them afterwards and not be inundated and thus, exactly how I am right now. He told me "stop" He asked me to just listen to him and not take notes.... ? I'm so mad that I did that. The social worker said "this could be really good news!" I am getting that sense, they might be able to rule out epilepsy. However, my confusion is still that I did not get answers to any of the questions I had planned on asking (via my laptop...)... why is it that last time we met he mentioned that if no seizures were captured in this ambulatory EEG, they likely could be "deep seeded" ... that even if no seizures were shown they would be able to see abnormalities. WHAT did they see or not see? WHY has she had 7 abnormal EEGS? While I understand that abnormal EEG's do not equal epilepsy, why for this long have they been treating her for them. WHAT am I seeing? I have sent countless videos to her neurologist as well as her pediatrician (who work closely together); her pediatrician viewed the videos and said that if she was taking the board she would classify the video as a seizure and elaborated on what type and exactly why. I showed another video to a nurse practitioner we met yesterday prior to the neurologist who said she agreed, and that the most recent video was even more concerning. I kept asking them, am I over reacting? If she has no seizures on EEG what am I seeing? They (He) said absolutely not. Why would I give her VALIUM (to my 3 year old) if she's not, in fact, having a seizure? They just don't know, that's all I could get from our meeting. I am so beyond lost. Nerofibromoaga (sp) was ruled out per her pediatrician; is it possible we missed something here? 3rd opinon?? What do I do?

Comments

So a few things to keep in

Submitted by Amy Jo on Sat, 2018-11-10 - 14:02
So a few things to keep in mind about EEGs and epilepsies...there is no diagnostic test that excludes all possible types of epilepsies, diagnosing epilepsy is still heavily on the art end of practicing medicine when there are inconclusive tests.many people with epilepsy can have multiple clear EEGs, a small few will never show any abnormalities - EEGs have physical limitations, even iEEGs can be hit or miss.a small (small!) percentage of people with EEGs showing abnormalities associated with epilepsy have some other brain issue.... So her chances of having epilepsy are super high, taking her off medication without some other explanation could be considered negligent care. Epilepsies can change over time so often more comes out but it takes time. Print out questions in advance of an appt - helps to focus doctors and take along another adult to be your second ears and make sure your questions are addressed. It’s perfectly reasonable to say that your questions are on your laptop and there is a lot of info to process so you can also ask about how to get additional questions answered or getting clarification when an answer still doesn’t make sense later on.Our child’s first EEG was clear, second only showed a few spikes but all other evidence supports her having partial seizures that were only somewhat helped with meds, years later she showed persistent activity of generalized activity with regular seizures (atypical absence and myoclonics) after starting to wean her off meds, still didn’t catch a partial which we were trying for. It took years to know, everything points to her having a genetic epilepsy (de novo) and it comes close to some descriptions which match on things like treatment resistant seizures and how things progressed. 

So a few things to keep in

Submitted by Amy Jo on Sat, 2018-11-10 - 14:10
So a few things to keep in mind about EEGs and epilepsies...there is no diagnostic test that excludes all possible types of epilepsies, diagnosing epilepsy is still heavily on the art end of practicing medicine when there are inconclusive tests.many people with epilepsy can have multiple clear EEGs, a small few will never show any abnormalities - EEGs have physical limitations, even iEEGs can be hit or miss.a small (small!) percentage of people with EEGs showing abnormalities associated with epilepsy have some other brain issue.... So her chances of having epilepsy are super high, taking her off medication without some other explanation could be considered negligent care. Epilepsies can change over time so often more comes out but it takes time. Print out questions in advance of an appt - helps to focus doctors and take along another adult to be your second ears and make sure your questions are addressed. It’s perfectly reasonable to say that your questions are on your laptop and there is a lot of info to process so you can also ask about how to get additional questions answered or getting clarification when an answer still doesn’t make sense later on.Our child’s first EEG was clear, second only showed a few spikes but all other evidence supports her having partial seizures that were only somewhat helped with meds, years later she showed persistent activity of generalized activity with regular seizures (atypical absence and myoclonics) after starting to wean her off meds, still didn’t catch a partial which we were trying for. It took years to know, everything points to her having a genetic epilepsy (de novo) and it comes close to some descriptions which match on things like treatment resistant seizures and how things progressed. 

There are mentions of GABRG2,

Submitted by Amy Jo on Sat, 2018-11-10 - 14:10
There are mentions of GABRG2, GABRG3, GABRA1 and why GABA related genes are of interest on epilepsygenetics.net.  

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