Harry Weir’s Epilepsy Story
Harry was born 2 weeks after his due date at 5.30pm on 13 April 2011; a happy and healthy 9lb boy. His birth was straightforward and he was breastfed exclusively until he was 6 months old and fully weaned at 7 months old. We followed “babyled weaning” and he was feeding himself finger-foods very easily and handling a spoon not long after. He was developmentally on track and doing well.
Harry developed “Glue Ear” (a blockage in the Eustachian Tube that clears the middle ear resulting in fluid like “glue” to fill the middle ear) shortly after weaning, and started to have repeated ear infections and diminished hearing. He had grommets (small vents in the ear drum to allow fluid to be released) inserted in the month he turned 1. In following 9 months Harry was prescribed 7 Antibiotics for persistent ear infections until the February before he turned 2 he had his grommets replaced and his adenoids removed. This settled down the ear infections.
In November 2013 Harry had a chest infection for which he was prescribed an antibiotic. The following week, although appearing better, Harry had a tonic clonic seizure on his way into the kitchen for breakfast. Keith, his dad, was with him. He seized for a few minutes turning very grey in colour, appearing not to be breathing and he was taken to hospital by ambulance. I was on my way to work and by the time I met them at the hospital he was sitting up tired but seemingly otherwise well. He had hit his head falling at the start of the seizure so the hospital admitted him overnight and then discharged him the following day with the assurance that a lot of kids have one seizure and never have another. Unfortunately exactly seven days later Harry had another tonic clonic seizure in the morning and again he was taken by ambulance to Hospital. By this stage my research had told me that a second seizure raises the chances of reoccurrence to almost 80%. He was scheduled for an outpatient appointment with a Paediatrician with a special interest in epilepsy, Dr Jonny Boyd, and given an EEG which was normal. There was a 6 week wait for the January appointment with Dr Boyd and the NICE Guidelines showed us the referral should in fact be to a Paediatric Neurologist so we scheduled a private appointment the following week with a Paediatric Neurologist, Dr Deirdre Peake.
Dr Peake confirmed our fears that this was most likely Epilepsy and that further seizures were likely to occur. She suspected that his epilepsy may be focal (originating in one part of the brain) and then having secondary generalisation (spreading all over the brain) and therefore recommended that he have an MRI to rule out brain abnormalities. Dr Boyd made a referral and Harry was placed on a 9 month waiting list for an MRI.
Following our appointment with Dr Peake two weeks passed before Harry had another seizure; this time in the car and we captured it on video to show to the doctors (we had been advised that this was useful for a diagnosis). Harry was brought to South Tyrone Minor Injuries Unit and then by ambulance to Craigavon Hospital. Dr Peake recommended that the Anti Epileptic Drug Lamotrigine should be prescribed. We learned that you must increase lamotrigine very, very slowly to avoid potentially fatal side effects so it would be weeks before he would be on a therapeutic dose. Harry was discharged that evening and we took him to the carpark, as he was being strapped into his car seat he had 2 tonic clonic seizures in quick succession. We brought him back to the ward and were told he should remain there until he was 24 hours seizure free. The next day was Christmas Eve. Harry was discharged at 6pm just in time to put some cookies out for Santa and go to bed.
We made enquires and established that our BUPA health insurance would pay for an MRI privately in London if we paid for the travel. We made arrangements to go to London in the first week of January. Harry remained free of Tonic Clonic seizures while in London and was thrilled to visit the dinosaurs in the Natural History Museum. On the bus ride to the airport on the return home he had a startle reflex, like when you jolt awake as you are falling asleep. We noted it as odd and were later to discover that this is a type of seizure known as a myoclonic jerk.
Through January Harry had 4 tonic clonic seizures during a week when we had family staying and we chalked it up to being more tired than usual. He had no tonic clonic seizures in February but was having several myoclonic jerks. He was scheduled for a sleep deprived EEG in March. For this we had to keep him up until midnight and wake him at 5am so he would sleep during the test. That morning he was really twitchy and his shoulders, hands and legs were twitching involuntarily and as he fell asleep he had a tonic clonic seizure – his first in 6 weeks. The following day he had 7 tonic clonic seizures between 5am and 5pm. He was prescribed a benzodiazepine called Clobazam for 3 days to rescue him from the cluster of seizures. The Clobazam stopped the seizures but his balance was badly affected – he walked and talked like he was drunk; wobbly and slurred. His behaviour for the 3 days was very challenging; he appeared to have lowered inhibition, hitting out at everyone and jumping off things too high and dangerous.
He then went 2 months seizure free – we were thrilled. We thought we must have finally achieved a therapeutic level of lamotrigine and that while obviously sleep deprivation was a trigger if we ensured he slept he would be ok.
On 10 May 2014 Harry had another tonic clonic seizure, the following week he had 12 in 4 days and was hospitalised again and the Lamotrigine increased. In hospital he was given Buccal Midazolam as a rescue medication (this is squirted directly into the buccal cavity between the lip and gum during a seizure) as the seizures were clustering closer together, he was also given another benzodiazepine called Clonazepam. The cluster stopped and 24 hours later he was discharged to be given clonazepam for 3 further days. Again he was wobbly and slurred and poorly behaved. The drug visibly wore off 2 days after it was discontinued; he could walk properly again, talk and behave better. The next day he had 9 seizures in 24 hours, after the fifth seizure we took him to hospital – he had a seizure in the treatment room and another an hour later, this one lasted 7 minutes (the longest up to this point). He was rescued with Buccal Midazolam. As he came round from the seizure he was really confused and it became obvious that he could not see – he was blind and confused! He didn’t know who we were – he was asking for mummy and daddy all day even though we didn’t leave him. Doctors and ophthalmologists examined him and we were told it was “probably temporary” but the doctors were obviously unsure and contacting the paediatric neurology department in the children’s hospital for reassurance. That day changed us, for the first time we realised these seizures might steal our little boy from us and we were terrified. We stayed by his side all night and at 6am the following morning he woke up and recognised Keith, he shouted “Daddy!” and hugged him. It was like a lottery win! He even made it out off the hospital in time to appear briefly at his Aunts wedding which was that day. Again he was on Clonazepam and again he was wobbly, slurred and difficult to manage behaviourally. Again we saw it wear off and again he started to seize. This time we started the clonazepam up again at home after he started to seize but it didn’t help straightaway and he was hospitalised – he had 15 tonic clonic seizures in 48 hours. The seizures stopped again so we took him home and the Clonazepam was to be maintained for 4 days with a gradual reduction. Three days later he had 20 tonic clonic seizures in 36 hours, he was transferred from Craigavon Hospital to the Royal Belfast Hospital for Sick Children to be given an IV loading dose of Sodium Valproate (Epilim). The Lamotrigine and Clonazepam were both stopped abruptly in hospital. He was now under the care of the neurologist we’d seen privately 6 months before, Dr Peake,. She told us about Myoclonic Astatic Epilepsy being a possible syndrome diagnosis for Harry. He was discharged home now only on Epilim, he could hardly walk because his balance was so poor, he was tired and he was drooling so much we had to buy bibs. He kept falling and banging his head. He could not use his hands well enough to build jigsaws he had been completing a month before. He was exhausted – so were we. His development was taking hit after hit and the seizures and medications were offering combined blows.
On 27 June just over a week after being discharged he started having tonic clonic seizures again, they increased in number each day. He was having them asleep and awake. He would collapse even while brushing his teeth. It seemed that as soon as he came round from one seizure another would hit. On 2 July he had two seizures in half an hour so we gave Buccal Midazolam. We called The Paul Ward in the Royal Belfast Hospital for Sick Children and were told there was no point coming there as there were no available beds so we took him to Craigavon Hospital. He had 30 tonic clonic seizures in 3 days. He was limp, between seizures, he could not eat, talk, or walk. He was just vacant and twitching. I had read about Non Convulsive Status Epilepticus (NCSE) when researching Myoclonic Astatic Epilepsy – it is a common complication which was described as exactly how Harry was:
With non-convulsive status in MAE, the typical clinical picture is of a drowsy, stuporous (ataxic or as if in a drunk state) child with subtle, barely detectable, myoclonic seizures often involving the face or extremities such as fingers. The child is unresponsive, drools, has slurred speech or is non-verbal, and even immobile. This condition is termed by MAE parents as “full-blown NCSE”. DooseSyndrome.org
I suggested to the doctor on the ward rounds that it was NCSE but he was unsure. Later that day following a doctors meeting, another doctor came back and said they thought it was NCSE. The medical team in our local hospital were trying to get him transferred to a bed on the neurology ward in the Royal Belfast Hospital for Sick Children with very little luck, there was nothing available despite him being so ill. They connected Harry to an EEG on the ward to confirm if it was NCSE. The EEG showed encephalopathy (slowed brain activity like someone would get with meningitis or a head injury) and almost continuous seizure activity, and he also had a tonic clonic seizure during the test. He was still barely there, responding only to pain. He was on Clobazam and Epilim and the medical team were using Buccal Midazolam and Paraldehyde (another rescue medication administered rectally from a glass phial as it would melt plastic!!) to try to rescue him. The following day he was finally transferred to the Royal as a medical emergency accompanied by a doctor and a nurse. He seized on arrival to the neurology ward and the neurologist, Dr Peake, arrived shortly after, she had viewed the EEG footage captured by the team in Craigavon. He was immediately given an IV load of Levetiracetam (Keppra) and transferred to Paediatric ICU. He stopped seizing during the night in ICU and he began to respond if called and by morning was eating a little if it was fed to him. He still could not hold up his own head, talk or sit up. He was moved back to Paul Ward, we had no idea if he would recover or if he was permanently brain damaged. Dr Peake told us only time would tell and to give it two weeks. Dr Peake suggested starting the Modified Ketogenic Diet, we’d read about it and knew it was effective with Myoclonic Astatic Epilepsy so we were keen to get started immediately. It was difficult to manage the diet in hospital. I started to make him breakfast and supper in the parent kitchen because the special diet chef did not start until 9am and therefore there was no breakfast for Harry until after that even though the other kids were getting theirs at about 8am. He had to take all his medicine in tablet form; initially crushed in water through a syringe which he detested and then one day he showed us he could just swallow them whole like an adult! Slowly as the week progressed and as he remained free of seizures he started to sit up with support, then the next day without support and then he could feed himself. His speech became more coherent and he began to be able to stand if we held him. He was very wobbly and would fall down easily but he was bright and happy. Then on the morning of 12th July while still in hospital he had 2 seizures an hour apart and another that evening – these were different than before. He would have a tonic clonic seizure then go into a type of seizure that made him writhe and twitch but he appeared aware it was happening to him. These were very distressing and lasted much longer than anything we’d seen before – 15 minutes sometimes 25. There was confusion about when to rescue him, on one occasion we begging a nurse to administer the Buccal Midazolam but she kept saying “it’s stopping now”; this went on for almost 30 minutes! The following day we had to appeal to the medical team to reach a clear stop point of 15 minutes where the Midazolam would be administered. An IV access point was placed in his hand so that he could be rescued again and he was given increased doses of Epilim. He was also given buccal midazolam, rectal paraldahyde and IV lorazepam for rescue. Despite these interventions the seizures continued and he disappeared back into Non Convulsive Status Epilepticus. During this period our neurologist was unavailable and we were being advised by the on-call neurologist. By the time Dr Peake returned, 3 days later, Harry had completely gone into NCSE again – he was being fed with a naso-gastric tube and was just lying twitching unable to move. We were exhausted and devastated our hope in the diet was fading and we were desperate. Dr Peake requested another EEG – it again showed encephalopathy and constant seizure activity. She suggested an IV load of Phenobarbital given that the two previous times he had had an IV load of an Anti Epileptic Drug it had rescued him. We were warned that this would be highly sedating and that he would be “completely flat”. It was true it knocked him out and for 24 hours he appeared practically comatose. It made no difference he was still in NCSE and having seizures. More tests were carried out he had blood draws and a lumbar puncture, samples were sent for genetic tests and Dr Peake spoke to us alone about the prognosis. She no longer expected him to ever be seizure free (even the diet only offers a 5% chance of seizure freedom) and he had global developmental regression. We asked would he start be able to start nursery in 6 weeks on 1 September she said she did not know but she would hope he would be there by Christmas. She referred him to the Child Development Clinic for therapeutic support and ordered another EEG. This time it was a special test to view the brain waves before a dose of Lorazepam and after, the effect was astounding – even to our untrained eye we could see the waves go from being all over the place to being in rhythm. Armed with this knowledge the neurologist ordered 48 hours of 4 hourly IV Clonazepam (another form of Lorazepam) again this knocked him flat but there was no twitching and after 30 hours she suggested we move to oral Clonazepam via the feeding tube. Very slowly he started to wake up and like the last time slowly started to regain his ability to sit up, stand and talk. All through this we were trying to achieve ketosis with the ketogenic diet being fed through the feeding tube but the med combinations and the volume of carbohydrates in the medicine were making this impossible. He was not in ketosis but he had stopped seizing again. We took him home on 31 July with referrals for Child Development Assessments, he had a helmet and wheelchair ordered and our house was to be assessed by occupational therapy to ensure it was safe for him because he was falling so often. We had replaced our stair-gates, added one to his bedroom, had an additional stair rail installed and took all of the furniture out of his room and instead just put 2 mattresses side by side on the floor (one for him and one for me) to keep him safe.
He had been in hospital for a month, the day after he was discharged was his sister’s birthday the first time out of hospital that he would feel the full impact of the restrictive ketogenic diet on his life. He cried not being able to have cake and we cried inside but stayed strong for him. This diet had to work!
At home in August we continued the ketogenic diet and Harry took 15 tablets a day (Epilim, Keppra and Clonazepam). He was getting reasonable ketosis in the evening but losing it again over night. He started having seizures at night and early in the morning. He needed Buccal Midazolam rescue four times in August and had 17 nocturnal seizures. On the last weekend of August, on advice from our dietician we split Harry’s meals into 5 instead of 4 to add a late night feed where we’d wake him at 22.30 to feed him – instantly his ketones were better and more consistent. We also removed wheat and Aspartame from his diet. His last seizure was on the 30th August 2014!
Over the last 2 years he has been seizure free and we have weaned the cocktail of medications he was on. First we weaned the clonazepam as the side effects of it were horrendous (behaviour issues including aggression & compulsive risk taking, as well as exhaustion). At one point he was slapping me on the face, hurting his sister and running away on a daily basis. The wean was gradual it lasted almost 4 months but with every reduction in the medication we saw him recovering, by the time it was gone completely he was more alert and his behaviour, although not always perfect, had improved hugely. Immediately following the clonazepam wean, on advice from Dr Peake, we began weaning the Sodium Valproate (Epilim). Again the reduction in side effects was amazing, his speech improved, his fine and gross motor skills that he’d lost returned and he was playing much better with other kids. He was discharged by Occupational Therapy and Physiotherapy and we returned the wheelchair. Following 2 normal EEGs we weaned the last medication, Keppra. He is doing well at school, learning to read and add, and his behaviour is great. He’s showing no developmental delays and has regained all the skills he had lost. We were very careful with the diet, we weighed both carbs and fats meticulously and fed at the same times each day.
Although we tried to keep it as normal as possible the diet was hard on Harry – he often felt left out of events the revolved around food and would just go off and play away from company. He had regular blood tests and hospital visits but through it all he showed us a resilience that we could never have imagined, he is so tough and brave. The ketogenic diet saved his brain and maybe even his life! We are glad we started it, glad we persevered when at first it did not work and glad we stuck with it. We have now weaned the diet and another clear EEG saw him moved to the neurologist suspended list. We still monitor him closely and may always feel a little like we are just on holiday but the day we were told he’d never be seizure free we promised to enjoy every good day and we are trying to stick to that plan!