Mac’s Story 

My son Mackinley, was born three and a half years ago after an uneventful pregnancy and birth. He developed normally until the age of eight and a half months when he suffered his first and only tonic clonic seizure.  I had only read and heard about seizures and knew how to respond (you know all that DR ABC stuff!) That’s well and good in theory. In reality, I thought my beautiful baby boy was dying. Needless to say, the vague memories of past first-aid courses went straight out the window, as well as minding my language in front of the kids! 

From that memorable day on, Mac has suffered daily myoclonic jerks, usually averaging about 50 per day. He also had episodes of not being able to function – he appeared only semi-conscious and couldn’t talk, walk or do practically anything for up to 20 minutes at a time. And so began the long and winding journey for my husband and I, family and friends, to find out exactly what his problem was and, more importantly, how to treat and manage it. 

At 3 years old, after a battery of tests, it was suggested that Mac had a very rare metabolic disorder known as GLUT 1 Deficiency Syndrome. In layman’s terms, this is a disorder whereby sufferers show normal blood glucose reading yet low glucose readings in the CSF. Subsequently, a reduced amount of glucose is able to enter the brain, and considering glucose is the brain’s major source of fuel, this then leads to impaired functioning. Mac displays classic symptoms of GLUT1 DS, those being seizures, speech delay, gross motor delay and learning difficulties. Besides all that he is a typical three and half year old boy who generally runs amok! 

Now for the miracle cure! Well, there isn’t one. Anti-convulsants, in general, don’t do much to control the seizures. And even if they did, they don’t address the problem of somehow getting fuel to the brain. This is where the Ketogenic Diet comes into play. Through the diet, which is extremely high in fat and low in protein and carbohydrate, the body burns fat which in turn makes ketone bodies. These ketones are able to enter the brain and are used as an alternative source of fuel, thereby allowing the brain, to a certain degree, to function more appropriately.  

Mac began the diet in hospital, fasting for 2 days. (Loads of fun for everyone, trying to avoid the food trolley 5 times a day!) We then returned home, rearranged the pantry so that Mac couldn’t see anything remotely edible, and started cooking, reading every minute detail on the back of every packet, weighing food, calculating, more cooking, trying to get Mac to eat the food, listening to mountain-loads of whinging and more cooking! His seizures reduced by half. This was at least something. It was very difficult to manage accurately, as most of us are aware 3 year-olds won’t eat what they don’t want to eat! (Don’t have to be a rocket scientist to work that one out!) We continued this version of the diet for 5 months, but it varied so much from day to day. Mac would have a good day of only 10 seizures or he might have a bad day (and night) of 150 seizures! 

That brings us to where we are currently. It was suggested, to my initial disbelief, that to get the diet more accurate, Mac would have a gastrostomy,  whereby he would become tube-fed. We agreed to this and for the last 4 weeks Mac has been fed oil (straight cooking oil!!) and milk formula (high fat, carbohydrate free) into the tube, straight into his stomach. This has reduced the seizures even more. He currently only has about 10 myoclonic jerks a day, his speech has improved, his balance and coordination are better and he generally functions pretty well for a kid with a disorder. Whilst this has been quite successful in our minds, it has been fairly difficult dealing with a child who has 3 years of eating habits to overcome. The great thing about feeding via the tube is that we don’t have to “fight” with Mac every time he needs a feed. We are hoping that in the very near future we will be able to add some “real” food to his diet, possibly meat and other protein-only foods.  

This all takes a lot of calculating and constant changing to keep up with necessary growth and we are lucky enough to have an experienced and knowledgeable dietitian, with whom we can keep regular contact. We are also trialling another anti-convulsant aimed at the leftover seizures, as we feel the diet is probably working at its maximum potential. I do know of other children for whom the diet completely controls their seizures. Unfortunately, this hasn’t happened for Mac. But 80% control is noting to be sneezed at and I am slowly coming to accept that Mac may never actually be seizure-free. 

The road ahead, like for many other parents living with epilepsy, is long, winding and uncertain. But what I do know is that I am so lucky to have such a special kid as Mac.