Although it is relatively rare for children with CDKL5 disorder to experience status epilepticus, it can happen by the very nature of the severe seizure disorder which is generally the most prominent symptom of the disorder.

However, non-convulsive status is more common amongst this population of children.  The following article has been written as a guideline.

Status epilepticus is defined as a seizure lasting for thirty minutes or longer, or multiple seizures spaced so close together within thirty minutes that the patient does not recover between them. Status epilepticus – regardless of its cause – is associated with increased morbidity and mortality in all age and remains the most common neurological medical emergency in the UK.

At the onset of a seizure, it is first important to ensure that the patient is not in a potentially harmful position, and assess their airway, breathing and circulation. Help should be called for immediately – whether it is an ambulance or medical staff, depending on where the seizures begin. As soon as the proper equipment is available, the patient’s blood glucose concentration should be checked and high flow oxygen administered.

As is outlined in Figure 1, if intravenous (IV) access has not yet been established, then 0.5 mg/kg of buccal midazolam should be given. IV access should be gained rapidly such that 0.1 mg/kg of lorazepam can be administered if the convulsions persist for ten minutes following the first line oral treatment.

On the occasion that IV access cannot be obtained, a second dose of buccal midazolam can be given or, alternatively, a rectal dose of paraldehyde could be administered.

The patient should be carefully monitored after the first dose of lorazepam and, if their seizures continue for ten minutes, a second dose of lorazepam should be given. If the patient still does not recover, they are said to have entered the second phase of status epilepticus – established status epilepticus.

This phase of the condition is first treated by setting up an IV infusion of 20 mg/kg of phenytoin to be administered over 20 minutes. As an adjuvant to phenytoin, a 0.8ml/kg mixture of paraldehyde can also be infused at the discretion of senior medical staff. Alternatively, 20 mg/kg of phenobarbital can be infused over five minutes.

It is at this point that the staff of the intensive care unit should be notified of the impending transfer of the patient for intensive treatment; the patient is now entering refractory status epilepticus.

Figure 1: A flow chart outlining the treatment of status epilepticus in children.
References

Freilich ER, Schreiber JM, Zelleke T, Gaillard WD (2014). Pediatric status epilepticus: identification and evaluation. Curr Opin Pediatr 26(6): 655-661.

Nair PP, Kalita J, Misra UK (2011). Status epilepticus: why, what, and how. J Postgrad Med 57(3): 242-252.

Neubauer BA, Hahn A (2014). Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues. Epileptic Disord 16 Suppl 1: 89-95.

Scott RC, Surtees RA, Neville BG (1998). Status epilepticus: pathophysiology, epidemiology, and outcomes. Arch Dis Child 79(1): 73-77.

There are a number of dietary treatments which are used to help with the management of epilepsy.
The ketogenic diet, a high fat diet designed to mimic starvation and has been used for the treatment of epilepsy for over eighty years.

Many children with CDKL5 have tried the ketogenic diet, some has had very good responses, although the prevalence of those that have achieved seizure free has been relatively small.

However, having said that parents have reported few seizures, increase in awareness and a better quality of life.  CDKL5 UK have worked closely over the years with Matthews Friends, the Ketogenic Diet Therapies charity in the UK.  There are a number of dietaries which are currently in use:

Classical Ketogenic and MCT Diet
Modified Atkins Diet
Low Glycaemic Index
Tube feeding the Ketogenic Diet 
A comparison of Dietary Treatments

For more detailed information about dietary therapies for epilepsy visit the Matthews Friends website here.

Personal Experience of the Ketogenic Diet

Before Evie started on the ketogenic diet I had my doubts. It all sounded very complicated and thought it would just take over and going out and away would be a nightmare. In the build up to starting the diet the information came in fast and the papers built up and I talked myself into not being able to do it.

I didn’t really understand it and I didn’t know anyone else who had tried it. It turned out I was making it seem a lot worse than it actually is.

When we went for the first appointment my mind was put at ease. The dieticians for me were great, explaining things well so I can could understand it and so could my family who I took with me, I thought in the case the more ears the better and also for when they would look after Evie they would have more of an understanding.

I just told myself it would be like getting up to prep bottles like I did when Evie was born except  I would be getting up and weighing out her meals for the day, it would soon become way of life which it has. I am a very organised person, which I think with this kind of diet really helps.

Evie has never been a fussy eater and would always try new things which helped, in the lead up to starting I tried a few meals out on Evie to see what she would and wouldn’t like.

When we started the diet GOSH where great, they were always at the end of the phone or email. For the first 2 months I think I spoke to them nearly every day one way or another!

They initially said to give the diet a go for 3 months, check her blood keto levels every day with a finger prick test (which I hated, still do) and we will find a ratio which suits her best. 3+ months went past and there was no change, she was still having tonic-clonic seizures, they said to give it another few months but I said I would give it another month and that would be it.

I remember being out shopping with Evie and she suddenly had a really bad seizure, luckily before rescue meds was needed she came out of it. That was it for me; I was ringing the hospital and coming up with a new plan. But after that seizure there were no more tonic-clonics, so we monitored her and things did improve, yes she has absences and spasms but to me that is better than the tonic-clonics.

So we continued on with the diet, regular checks at GOSH, regular weighs in and blood checks and it became way of life pretty quickly. She does pretty much have the same meals everyday but she doesn’t complain and she always eats them.

As I said before I am organised, once you are established on the diet you can cook and freeze meals and I prep what I can for the week ahead especially with Evie being at school now. School are also extremely good and only give her what I take in and they keep her own squash at school.

There are things that seem extreme, like certain toothpastes, squashes and certain double creams but you soon get used it. And then there’s the pots! You will have more plastic pots than you could ever imagine!

Evie has now been on the diet for 2 ½ years and I feel it’s time to wean her off. Why? Because over the last 2 ½ Evie has changed so much and I want to see that the diet I still the right way forward for her. Yes there is a chance of some bad seizures coming back and she has had the odd one here and there but if they come back then the diet will also come back in play. I feel she is missing out on different textures, flavours and the opportunity to try and chew.

She will be weaned off the diet like she was weaned on, gradually, slowly and will be monitored by weight and keto blood levels. We are currently on the first stages on coming off so fingers crossed it goes smoothly.

If you are thinking of trying the ketogenic diet but you are unsure then I personally would say give it a go but that’s because it worked for us. At least you would have tried it and if doesn’t work you can cross it off, like any of the epileptic drugs out there, they don’t work for everyone. Its finding what’s best for your little fighter.