Lucy has Dravets syndrome (SCN1A gene) – it is a catastrophic epilepsy condition that is extremely resistant to treatment. She is also diagnosed with an intellectual disability and co-morbid ASC and ADHD.
In clinical studies, the most well documented and proven combination of drugs include valproic acid (Epilim), clobazam, and Stiripentol. Lucy is on these 3 drugs plus a ketogenic diet – Modified Atkins Diet(MAD). This combination has been beneficial to Lucy as her seizures are more controlled and she is able to enjoy her life within the limitations of her condition.
We had hoped to be able to stop her drugs whilst on the MAD but it proved too difficult in terms of seizure control; we were, however, able to reduce the drugs to the minimum, hence limiting the side effects.
Lucy was diagnosed with Dravet Syndrome at the age of 3, after numerous seizures resulting in status epilepticus and sometimes weekly admissions to ITU. Excitement, over-heating and illness are still seizure triggers for Lucy but if she is managed well, in terms of diet and treatments, she can have a good quality of life.
As a child, Lucy was on a huge amount of medication, Phenobarbitone, Clonazepam, Epilim and Stiripentol. Even with this amount of medication she would still have status seizures and had terrible side effects from the amount of drugs. We continued to research, to try to find something better for Lucy – which is when we started to read about the ketogenic diet. Being in a provincial hospital nobody knew about the diet. We did, however, find out that Plymouth hospital had a ketogenic dietician – we requested a referral and started our keto journey. Lucy was 9 years old.
The result was almost immediate – she was filmed for South West TV prior to starting the diet where she was viewed to be having almost constant seizure activity.
After a month on the diet she was a totally different child and was filmed again being able to participate more in life; start ballet lessons, learn to read and write and have a much more quality of life.
To be scientific, we requested an EEG to see if it made a difference to her trace. It resulted in showing that the sub-clinical seizure activity had disappeared! Lucy still had seizures but they were less frequent and didn’t always require hospitalization and admission to ITU.
When she was transferring to secondary school (special school) at 11 years old, we decided to stop the diet as it ‘might be easier’ for them to manage! Her medication had to be increased significantly to control her seizures resulting in toxicity. Her hair started falling out, she could barely lift her head and she was like a zombie.
We took the step to re-start the diet – her medication was halved and she has been on the MAD ever since. Over the years we have experimented and refined various recipes. Lucy now enjoys a wide and varied diet and is able to prepare many of the keto meals herself. Friends and family have also joined in the process and often have ‘Lucy friendly’ food prepared for her when visiting. Initially, it is hard work but the rewards are significant.
She is now 20 years old and is moving into supported independent living.