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Patient voice

Hannah, Me and NCSE

This is Hannah. She is almost nine years old. She loves selfies, music, dancing, school, socialising, pizza, meatballs, chocolate and she is a joy to be around. She has a mischievous streak, will laugh hysterically if you accidentally hurt yourself and she has a mighty right hook. She has a sparkle that surrounds her and an incredible gift of bringing out other people’s joy. She is also a teacher of a great many lessons to those who have the privilege of getting to know her.

Hannah lives with not one but two rare genetic conditions; inverted duplication and deletion of the short arm of chromosome 8 (inv dup del 8p) and a gene mutation of SCN1B located on chromosome 19. She is likely the only child in the world with both—I say likely because usually when we stumble across one genetic condition we stop looking any further, therefore we currently cannot find anyone else with both.

Part of Hannah’s presentation means she lives with Lennox Gastaut syndrome (LGS), a rare form of severe childhood epilepsy which is usually resistant to treatment and currently with no gold standard of treatment.  Hannah is a textbook case of LGS and her aetiology follows the same route of most other people living with the condition.

November is Epilepsy awareness month. Many people believe that living with epilepsy means having tonic clonic seizures. The type where you fall and convulse, and it ends quite quickly. Many people are versed in this type of seizure first aid, but sometimes it’s far more subtle. Part of Hannah’s epilepsy progression over the last few years has been non convulsive status eplitepticus  (NCSE).

“Nonconvulsive status epilepticus (NCSE) refers to a prolonged seizure that manifests primarily as altered mental status as opposed to the dramatic convulsions seen in generalized tonic-clonic status epilepticus.” 1

While the above definition on the surface, aims to define in a medical sense what someone goes through during NCSE it doesn’t quite hit the mark. Hannah’s longest episode of NCSE lasted nine weeks. Not days or hours, but weeks. In that time, Hannah lost her hard-won speech, her ability to swallow and eat, her ability to move independently, sit up, walk, and turn over in bed. She regressed in skill level to that of a new-born baby. She was permanently tachycardic, and as her family we feared this was the beginning of the end.

Hannah’s epilepsy journey began when she was 12 months old and started with febrile convulsions. These febrile seizures would present in pairs, always 12 hours apart and they would be longer than typical convulsions. We had rescue meds and her longest febrile seizure was one hour and 45 minutes long. She would then go several months without seizures and have good recovery afterwards.

When Hannah turned seven things changed. The seizures were getting closer together and we added in a medication after reaching the maximum dose on the one that previously worked so well. In the months that followed—which coincided with Covid-19 and lockdown—seizures began picking up and becoming not only weekly but sometimes several in a day. We battled for several months adding medications, removing them, tweaking doses, her having reactions to medicines, but nothing was working and in 2020 she had 120 tonic clonic seizures. This far surpassed her lifetime total and doesn’t actually include a count for absence seizures, drop seizures, myoclonic jerks, several episodes of NCSE or injuries arising from these seizures.  

I’ve always fought to have my voice heard—as Hannah’s mother and expert in Hannah. Sometimes it is easier than others and very much depends on the doctor who stands before you on any given day. In April 2021, I took her to hospital after seven weeks of NCSE. I put my foot down and refused to leave until they helped her. She couldn’t function and although she was “awake” she was staring off into the distance and couldn’t engage with the world around her. She was in effect “locked in”. I questioned her medication repeatedly and questioned whether the dose was too high. Was she toxic? Is it harming her? I researched and found information that this medicine could in fact exacerbate seizures. My “hunch” was ignored. I didn’t have hard evidence that the gut feeling in the pit of my stomach was correct.

One of the days during her hospitalisation I had swapped with her dad and was at home with my other children and my own mother. As I was putting away some laundry, all of a sudden, I dropped the pile of clothing and hurried to the cupboard. I had long kept a seizure diary, however for some reason I had tracked her medication changes on our family calendar. Finally, after almost 15 months of chaos I sat and combined the two. I had my evidence, every single increase in seizure activity or addition of new seizure type corresponded with an increase to the very medicine that I had been questioning.

Awake and Happy

That evening I went back to the hospital and presented the data to her neurology team who agreed it was a possibility. At this point we were nine weeks into NCSE and she was having up to ten tonic clonic seizures per day. Rescue meds were no longer working, and she was slipping away from us unable to even make eye contact.

Her doctors agreed to half her dose of this medicine, and we waited.

We didn’t have to wait long as the next morning Hannah woke up….. and sat herself up in her bed. The spell was broken and by lunchtime she was throwing a ball for her daddy and giggling. My gut was right, and my girl was starting to sparkle again.

It was during this admission that secondary genetic testing was requested due to her not following the same path as her 8p peers. It was through the genetic testing panel that we discovered her second genetic condition which is SCN1B. Interestingly, the medication which was exacerbating her seizures is contraindicated when there are mutations with sodium gated channel genes. The science to back up my gut feeling. Since removing this medicine and avoiding the other medicines within the same pharmaceutical family we haven’t had a single episode of NCSE re-occur.

“Genetic testing is so important as it can tell us how to treat someone effectively, but equally important it can tell us how NOT to treat someone. Personally, I don’t view diagnosis as a negative thing. It’s a doorway to treatment and information. It gives us a direction to travel and a compass for research.”

So far in 2021 Hannah has had 510 tonic clonic seizures and thousands of absence, focal and drop seizures. She is slowly re-learning to walk and eat orally but her speech remains locked away for now. Her silence is as deafening and her once loud and repetitive speech was. In our quest to help Hannah, we have even tried a Keto diet for several months where we went all in weighing everything and had incredible support from Keto charities like Matthew’s Friends but to date Hannah remains a medical mystery and remains drug resistant—so far.

So what’s next? As science advances and pharmaceutical companies extend their approval for epilepsy medication some children like Hannah are finding relief. But what if you have a rare epilepsy like Lennox Gastaut syndrome? You rely on someone researching and approving the medicines for use in that particular condition. You are forced to hang on until you are allowed access to those lifesaving medicines and just hope beyond hope, that it isn’t too late.


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