Joey’s Story

Joey
UPDATE
We are now just over two years down the track. When I wrote the above I was very optimistic the ketogenic diet was going to free Joey from all his seizures. And it did make most of them go away but we never got rid of them entirely. We battled away on diet therapies for just short of two years which helped Joey enormously. I say “battled” because he never fully accepted the diet, and it was always a struggle to get him to eat. I would do it all again though, because even though he was still having daily seizures, the numbers were very reduced. He went from having 30-40 daily down to some days where he would have as few as two drops. He was able to go back to preschool after an absence of six months and participate in many everyday activities which pre-diet seemed impossible. In mid 2013 we decided we needed to have a break from diet therapy to give Joey a chance to put on some weight and have a little more freedom. After more than two years at the same weight he did gain a little and also had a little growth spurt. Unfortunately he did also have an increase in seizures, proof again that the diet is an effective treatment for this condition. Atonics or drop seizures continued to be his main seizure type until late 2013 when Joey went through a very bad period including the return of tonic clonic seizures and tonic seizures. He also had a week-long hospital admission, for most of which he was in non-convulsive status epilepticus. This period may have been caused by a too rapid wean of one of his medications (Topomax) but we can’t be sure. We also had a number of seizure-free days in that period so it’s hard to tell what was happening. The good news is that after that very rough patch, Joey is currently not having any visible seizures. The last seizure we have seen was in late January this year. The latest medication we have added is rufinamide so we may have that to thank. However, some of the seizure-free days pre-date the rufinamide so again we cannot say for sure. We are very happy Joey is having this extended break from seizures (day 58 today!) but remain watchful. However, we are allowing ourselves to be quietly optimistic for the future. Joey started at mainstream school this year and while he has obvious delays and requires an aide, he has made some pretty big strides already. Onwards and upwards!
Deb, Bernie & Max
March 2014

Joey is our bright and beautiful three year old boy. We live in Wyong, New South Wales just north of Sydney, Australia. Joey loves music, going to playgroup, riding his bike, going to the beach and playing with his big brother Max. Joey started preschool this year (2011) and was enjoying socialising with his peers and learning lots of new things.

As a baby Joey had a series of febrile convulsions between the ages of 12 and 13 months. The convulsions happened when he was suffering from ear infections which he was susceptible to following a viral cold. The medical advice we received at the time was that the febrile convulsions did not necessarily mean there would be any ongoing problems. Since Joey went on being a ‘normal’ one and two-year-old we stopped worrying about it.

Then from April this year we started seeing brief ‘absences’. Joey would go facially blank and unresponsive to his name or surroundings. They were very fleeting moments and no one else would notice them. Then on June 15th of this year he had what we now realise was his first myoclonic atonic seizure. He had what we described to his doctor as a “startle reflex” then fell flat on his face to the floor. He did have another ear infection at this time, so we started him on a course of antibiotics from our GP and asked for a referral to a paediatrician to check things out a bit more thoroughly. Before we got to that initial appointment Joey had another 4 jerky movements (myoclonic seizures), then a generalised tonic clonic seizure on the 27th June. That was the beginning of our journey with Doose Syndrome.

That first (and so far only fingers crossed) tonic clonic seizure was followed by a series of jerky (myoclonic) and drop (atonic) seizures, up to 45 in a single day. The drops made him bite his tongue and he suffered multiple injuries to his head and face, although nothing severe thankfully. Initially we had him wear his bike helmet at home, then more recently we have had a custom-built head protector made. He no longer attends preschool, although that is more our decision rather than him being excluded because of his epilepsy.

Joey was admitted to Gosford Hospital where he had an EEG, an MRI and a lumbar puncture. From these results and some video footage we took of his seizures, Joey was diagnosed with Doose Syndrome by Dr John Lawson, a paediatric neurologist at Sydney Children’s Hospital. We were prescribed a series of medications including phenobarbitone (briefly at Gosford before formal diagnosis), sodium valproate, clobazam and levetiracetam. The meds often had an initial impact by reducing the number of seizures but the count always crept back up. In August-September Dr Lawson tried a course of oral steroids (prednisolone) which seemed to lessen the severity of the atonics but did not have a huge impact on overall seizure numbers.

We were put on the waiting list at Sydney Children’s for the ketogenic diet and Joey commenced the diet on the 10th of October, 2011. We are still very new to this! So far the diet has had a huge impact and we are only at 2.5:1 ratio. His seizure count has been at least halved on a daily basis and some days we have had as few as 3 seizures. We didn’t progress straight away up to the classical 4:1 diet since Joey has had a lot of trouble tolerating it. During the initiation admission he began gagging and vomiting to such an extent that we stopped upping the ratio at 2:1. He also suffered bad constipation. Once home we have been able to up the ratio to 2.5:1 and intend going up to 3:1 very soon. This gradual increase has allowed us to work out what he will and won’t eat and build up our recipe base. We are also hopeful we will feel confident enough to send Joey back to preschool in the very near future. We are very optimistic the diet will work for Joey and are looking forward to him being seizure-free by Christmas!

Joey’s parents Deb & Bernie, and his big brother Max
November 2011