Jessica’s Story

Our little girl Jessica, age12, was diagnosed with Ring20 Chromosome Syndrome in August 2015, following a period of seizure activity that commenced in February 2015. A condition where there is just over 100 diagnosed cases in the world. Prior to this, Jessica was a very fit and active little girl.

Almost overnight, seizure activity increased to circa 40 per day which put such a massive strain on her body. This, combined with a number of different AED (anti-epileptic drug) combinations left Jessica with little confidence, where she spent most part of her day asleep.

Jessica’s seizures consisted of tonic, complex partial, absence/status, non-convulsive and nocturnal (sleep).

Behaviour during these next few months was also extremely challenging. The reality of frequent and aggressive seizures, AED side effects and an abnormal sleeping pattern, all resulted in months where Jessica was unable to attend school. This all contributed to the rapid decline in Jessica’s behaviour.

To date, we have not had to consider the use of emergency AED’s, as Jessica has remained semi-conscious throughout all of her seizures. Status seizures have also lasted no longer than 30 minutes.

During October 2015, in consultation with Jessica’s Neurologist, we made the decision to withdraw as many of the AED’s as possible and to explore alternative treatment methods. This decision was made based on the fact that until the mechanisms underlying the way seizures are generated in Ring20 are understood, Neurologists cannot successfully prescribe specific AED’s to target these seizures.

On the 12th November 2015 we commenced our ketogenic diet journey. With the support of our Neurologist and Dietician at the Royal Hospital for Children, Glasgow, we embarked on our keto journey, knowing that a lot of patience would be required.

Having considered all versions of this medical diet, which is high in fat and low in carbohydrate, we agreed to try the MCT version, thus allowing a higher percentage of carbohydrates to begin with. Jessica adapted well to her change in diet, much better than what we had anticipated. For Jessica, there was no tolerance for any ad-hoc eating, the loss of all her normal food choices and treats, and every meal having to be weighed and consumed with a 50% fat content. We cannot begin to tell you how proud we are of our little girl.

During the first 3 months of commencing the diet, we struggled to obtain a constant state of ketosis, a normal metabolic process. This is when the body doesn’t have enough glucose for energy, it burns stored fats instead and this results in the build-up of acids called ketones within the body. This change to the metabolic process has shown to help with seizure control in many different types of epilepsy.

(Jessica on finishing her first keto meal)

After 6 months, we startedto see an improvement in visible seizure control and it was clear that the diet was having a positive impact on Jessica’s quality of life. We can’t emphasise enough that we got our little girl back, her energy levels improved, she was much brighter and alert and was back to being the active little girl she once was, playing with her football teams and attending her dance classes once again. We realise however that the diet can only be tolerated by the body for a limited period and as such, we require a long term treatment for the syndrome.

(Jessica signing for Gartcairn for her 5th season)

Since commencing the diet, Jessica’s visible seizure activity has now reduced on average to 10/15 visible status seizures per day and the duration of each seizure has considerably reduced. Status seizures that previously could last up to 30 minutes have almost disappeared and complex partial seizures tend not to last any longer than 30 seconds. Night time seizures can still be sporadic but again the volume has significantly reduced. The cluster seizures that we faced every morning no longer exist.

The challenge we have though, is the inability to control one particular seizure type, non-convulsive status epilepticus, which can be described as unnoticed seizures or a ‘twilight’ state of confusion or lessened awareness. These seizures are difficult to recognise and can be mistaken for an absence seizure.

EEG monitoring shows this abnormal seizure pattern for Ring20 patients, with trains of slow waves and sharp spikes over the frontal region of the brain. This abnormal pattern can last for days or weeks and can result in a lessening of learning ability and behaviour problems.

(Jessica’s overnight EEG monitoring her brain activity)

We embarked on our keto journey with a realistic expectation of better seizure control, but at no point believed we could eradicate seizure activity completely knowing the challenge stated above.

Alternative treatment which is effective to varying degrees in Ring 20 patients, is that of a Vagus Nerve Stimulation (VNS Therapy). This involves implanting a medical device under the skin, similar to a pacemaker that delivers a mild electrical current to the brain via the vagus nerve. Again this is a treatment that may help reduce the frequency and intensity of seizure activity, but again does not treat or address the abnormal brain function and development associated with this syndrome.

What is Ring 20…

Ring20 Chromosome Syndrome is a progressive and rare disease that causes intractable (untreatable) epilepsy and to varying degrees disables sufferers to the point of being unable to walk /talk and or are severely regressed in development with severe to moderate learning difficulties and other co-morbidities.

For more information about Ring 20 – please visit our friends at: www.ring20researchsupport.co.uk