A SynGAP Mom’s First Experience With A Tonic Clonic Seizure

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Rebecca Kohlhepp has been an advocate within the Syngap community since 2011 when her daughter, Autumn was diagnosed, beginning the first Syngap Family Support Group.  Rebecca served as a board member for another US Syngap Organization for close to three years with a focus on Patient Support and Engagement.  Rebecca has recently joined the Syngap Research Fund as Treasurer and is also serving as a regional Patient Ambassador.  Rebecca is an active supporter of Syngap Global Network believing that the greatest impact will be realized through global collaboration.

Absence seizures. Myoclonic seizures. Atonic seizures.  Tonic Clonic Seizures.  Epilepsy is one of the more frustrating symptoms of Syngap1, a neurodevelopmental disorder that also causes Intellectual Disability, gross developmental delays, speech deficits, and behavioral challenges, just to name a few.  Syngap1 patients run the gamut in the type, duration, and frequency of seizures to which they are susceptible.  Seizures are a common conversation topic within our community and collectively we have a wealth of knowledge about how they present and how to handle them in our children.

I have often counted ourselves as some of the lucky ones with our daughters Epilepsy diagnosis.  She was diagnosed with what is seemingly the most benign of all seizure types, Absence Seizures.  While still difficult to come to terms with the trauma that is happening within your child’s brain considering the other options in the landscape of Epilepsy we couldn’t really complain.  Recently, one of my Syngap mom friends, experienced the worst trauma of a Tonic Clonic seizure in her son who has both an LGS and Syngap diagnosis.  LGS is a form of epilepsy that predisposes the patient to essentially every seizure type.  As I listened to her recount the experience my heart hurt for her and her family.  I was thankful for our “benign” seizures thinking that my daughter was still relatively safe from such an event.  

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Unfortunately within a matter of weeks my daughter would experience her own Tonic Clonic seizure.  I learned immediately that I was not well prepared for such an episode to happen.  While I knew the “right” steps to follow in the event of a Tonic Clonic seizure, when faced with the actual situation with my own child my brain scrambled and I feel like I did many things wrong.

1. Assess the situation quickly and accurately

I did not immediately recognize that my daughter was having a seizure.  She had been having issues with the mucous in her chest and when I heard her gurgling and saw her in her bed with her head back and eyes rolling back I thought she was choking.  Since I was not expecting her to have a Tonic Clonic seizure I was not prepared to process what I was seeing.  

2. Lay the person on their side to keep their airway clear.  Do not try to hold down or stop the movements.

For some reason my instinct told me to pick my daughter up.  I am not sure why I did this, but I also have come to know that I am not the only parent to have had this reaction.  But it was in the moment that I held her that I fully comprehended what was happening and that she in fact was having a seizure.  I immediately called for help as my brain started to work in overdrive.  

3. Move away any objects from the person and provide a cushion for their head to protect them from head injury.

When I put my daughter down I laid her back in her bed.  In hindsight I wonder if the floor would have been the better option.  I guess as long as somebody was next to her and she could not fall off the bed it is not the worst place to be, but the floor probably would have been a more reliable choice.  

4. Start timing.  If the seizure lasts for more than five minutes or it is the person’s first seizure call an ambulance.

I was in full panic.  As soon as another person was in the room with me I fumbled, what seemed like endlessly, to get my phone to a screen where I could call an ambulance.  I did not time the seizure and could only speculate at its duration.  Looking back however my concept of time in that moment was non-existent.  I am confident to say that it was under five minutes though.  

5. Do not put anything in their mouth.

Before I got to the stage of calling the ambulance I noticed my daughters tongue was clamped between her teeth.  I tried to get a finger between her teeth, but her jaw wouldn’t budge.  I did not try to apply any pressure and as soon as I realized I would not be successful I took my fingers out of her mouth, but nothing should have been put in there to begin with.

6. Understand that a person’s breathing can become irregular during a seizure and they may even stop breathing for a short period of time.  They can become dusky blue around their mouth as a result.

I never knew that a person stopped breathing during these seizures.  I was on the phone with the emergency operator while my daughter lay on her bed limp and exhausted.  I walked into her room to give emergency an updated assessment.  She shot straight up, looked around bewildered and confused, and took the deepest gasp in.  The gravity of what that breath meant hit hard as I lost any calm that may have remained.

At the emergency room my daughter tested positive for Flu, which is maddening because she was recently  vaccinated.  They ran her through a CT Scan to check for any bleeds in her brain or lesions, since she had never had a Tonic Clonic seizure before.  I thank my lucky stars that all came back okay.  They told us that we would want to contact her Neurologist for a repeat EEG as her brain wave pattern may have changed.  We already had this on the books, but I did email her Neuro right away to let her know what had transpired.  

I learned that none of our Syngap kids are ever really insulated from these types of events.  What I was told by the ER doc is that you expect Fever seizures to be relatively non-existent after the age of five.  However this does not hold true in patients that already have an Epilepsy diagnosis, regardless of which type of seizures are typical for them.  Due to this knowledge any time my daughter has a fever I will always be hyper aware of the possibilities.  Also, her Pediatrician told me that seizures are a symptom of Flu, something I had never heard previously and believe all people should be aware of.    

I do not know that you can ever fully prepare yourself to see your child in such a compromised state.  I do not know, knowing what I do now, if I would have reacted any differently in my first experience of my child’s Tonic Clonic seizure.  I hope that in the event we are ever in this situation again I will have learned from the experience, that I will recognize more readily what I am seeing and act appropriately.  

Education and awareness is a powerful tool.  Learn more about Syngap and Epilepsy by visiting www.SyngapResearchFund.com and www.Epilepsy.com.