Friday, 24 April 2015

Undiagnosed

I have a son.
He can't walk.
And I don't know why.

He is five years old.
He can't sit up.
And I don't know why.

His name is Hugh.
He can't talk.
I don't know why.

His hair is dark.
He can't eat.
And I don't why.

His eyes are brown.
He can barely see.
And I don't know why.

He smiles a lot.
He forgets to breathe.
I don't know why.


Hugh is happy; he smiles and laughs all the time.  He loves being outside in the wind and listening to music and singing.  He likes little tastes of chocolate and he loves his big brother Sean.

He is profoundly disabled.

I don't know why.
The Doctors don't know why.

Hugh is undiagnosed.








Monday, 13 April 2015

Weaning off the Ketogenic Diet

Hugh's Food.

Just over three years ago I started chronicling the start of Hugh's journey on the ketogenic diet. He'd had epilepsy for 15 months and in that time progressed from having one seizure a month to well over thirty a month. Each of these seizures caused him to stop breathing for prolonged periods of time and we were resuscitating him frequently. He'd lost and subsequently regained the ability to smile and lift his head and he'd gone from drinking milk from a bottle to being fully tube fed, never regaining the ability to swallow safely. 70% of people diagnosed with epilepsy can control their seizures with medication, for the remaining 30% the chance of finding a drug to work significantly decreases with each new drug that fails. Hugh, typically, was in the 30% and having tried five different anti-epileptics and combinations of ant-epileptics, each with their own horrible side effects, he'd reached a point of being labelled 'medically intractable' that is his epilepsy could not be controlled by drugs. 

The ketogenic diet was our last hope. We were virtual prisoners in our home, Hugh and I. Rarely venturing anywhere except to hospitals. Even at that, routine appointments meant someone else had to drive me there so I could sit in the back to check Hugh was still breathing. He couldn't be left alone for a second and at this point, other than Stephen and I, no one else was trained to look after him. The diet was the light on the horizon, the hope for the future, offering us a way out of the epilepsy hell in which we lived. 
It was discovered a long time ago that when people with epilepsy were starved there was a reduction in seizure activity. Starvation as a treatment model doesn't really work though! But the ketogenic diet appears to mimic the effects of starvation, by providing large quantities of fat for the body to break down and use as energy which in turn produces ketones. These ketones somehow affect the brain and can have an anti epileptic effect. In some, the diet eliminates seizures altogether, so that the patient can be weaned off their anti-epileptic medication and still remain seizure free. 

For Hugh, seizure free never really happened. However we had a huge reduction in the frequency and severity of seizures he was having. Rather than resuscitating him on an almost-daily basis, he now only requires mouth to mouth every three months or so. The longest he has gone without stopping breathing is 9 months- this is something we could have only dreamed of prior to the diet. Hugh still has frequent seizures, most days in fact, but they rarely need any medication to stop them and other than comforting him and checking that he's safe, there's little we need to do for them. More importantly they don't affect his breathing or his heart rate and for the majority of them, he isn't really bothered by them. 
The drug weaning was less successful. We tried to reduce the amount of Phenobarbital he was on and his seizures went into overdrive, worse than ever before. At one point he stopped breathing for a full 16 minutes. His drug dose hasn't changed since!
But on the whole, the ketogenic diet has been a resounding success.
However, the diet itself is not supposed to be a long term solution. Children generally don't stay on it for longer than two years... And Hugh's been on it three. No one really knows the long term effects of a high fat, low carbohydrate diet on the body, but it's clearly not a balanced diet. Recent studies have shown that prolonged use of the diet can lead to problems in bone density resulting in an increased risk of fractures, particularly in non-mobile children like Hugh. Clearly this is a complication we would like to avoid.
So the time has come to begin the slow wean off the diet and hope that the frequency and
The kit to test Hugh's ketones
severity of Hugh's seizures do not increase. We are very gradually introducing small amounts of carbohydrate to his diet and testing his blood daily to check the effects on his ketones and blood sugars. To put it into context: prior to weaning Hugh's daily carbohydrate allowance was approximately that of half an apple- told you it was a low carb diet- and we are gradually increasing it by about the same amount of carbs as a small carrot once a week! It's a slow and carefully monitored process. 
Up until yesterday - we've been weaning for a couple of weeks now- Hugh was still in 'ketosis', that is to say his ketones were still at the optimal level for seizure control. Now however they have dipped, ever so slightly below that level. As you can imagine, 'seizure watch' has stepped up in its intensity and I'm watching him like a hawk. We're all on high alert and ready to respond should his seizures start creeping up in severity or frequency, but we're really hoping that won't happen. In fact, although I'm nervous, I'm cautiously optimistic about what this could mean for Hugh. The high fat diet hasn't helped Hugh's tummy troubles and he's been on a huge amount of medication for reflux and constipation, I'm hopeful coming off the diet will ease those symptoms and enable us to reduce the medications he's on. Plus not being restricted by the amount of carbohydrates he can eat opens a whole new world of tastes for him- chocolate in particular!!! He loves chocolate, but it's far too high in carbohydrate to allow him much. Sean will have to keep a tight hold of those Easter eggs if this weaning works out OK.
Which one shall we share first Hugh?
I'll keep you all updated with his progress of course, but in the mean time please keep Hugh in your thoughts and prayers and join us in hoping for a successful, seizure free wean from the diet.