Rhys’s story

After a normal pregnancy, Rhys was born two weeks early, in May 2010. It was hard not to notice the large birthmark on his little face but it wasn’t a major concern to me as I was just so pleased to meet him. What I was not aware of is that a birthmark, especially one in the position of Rhys’s, could be a visual indication of a rare neurological condition called Sturge Weber Syndrome.

Our paediatrician kindly made us aware that he would like to conduct further investigations and so, at 6 weeks old, Rhys had an MRI scan that later confirmed that he did indeed have Sturge Weber Syndrome and so our journey began.

We learnt that the condition, which affects 1:50000 people, had no known cause but could result in abnormal blood vessels on the skin, brain and eyes and could cause onset of seizures and glaucoma. We tried to continue life as normally as possible as there was the chance that Rhys may not have seizures at all but unfortunately, during a family holiday to Spain when he was 13 weeks old, he had his first seizure, followed by the next, and the next…

Doctors found it incredibly difficult to control his seizures and he stayed for a few weeks in the intensive care unit in Valencia Hospital. With seizures returning every time he moved from I.V. medication to oral, we flew home on a private medical flight and were in our local hospital for another few weeks before he was
stable enough to come home.

Over the next year, Rhys was constantly playing catch-up with the dosage of medication to his weight and ended up on a combination of three different anti-epileptic medications. Despite this, he was still having regular seizures so, after careful consideration and investigations, he underwent his first functional hemispherotomy neurosurgery (disconnection of the right hand side of his brain) when he was 14 months old at Great Ormond Street Hospital.

Following the surgery, Rhys’s seizures subsided and he went from strength to strength. He learnt to walk, seemed happy and came off two of his medications but sadly, after a year, we saw the telltale signs that he was having seizure activity again.

We tried, with the help of Great Ormond Street Hospital, to find the right combination of medicines to relieve him of the worsening seizures but, although he would sometimes go for days without a seizure, he was likely to have one at any given time.

It was out for dinner with friends one night that one of them mentioned that her son was on the Ketogenic Diet to control his seizures. I had heard of the diet before but didn’t know much about it. Hearing her talk about it and given that we were failing to manage Rhys’s seizures well on medication, I asked the specialist team caring for him for a referral to the dietitians which they were happy to do.

Rhys was weighed, examined and tested for his suitability for the diet and, as he was, we were given his ‘prescription’ and access to all the supplements he would need. We were also given the Matthew’s Friend’s website for help, support and advice. I got home and meticulously planned meal after meal for Rhys in anticipation of his start date. I will be honest and say that it did seem incredibly overwhelming at first. This is what reminded me to take a look at the Matthew’s Friends website. Here I found lots of inspiration and the opportunity to request a starter box. We found, on its arrival that it was just so thoughtful, containing useful utensils, pots and a set of accurate scales as well as treats that Rhys would still be allowed once the diet commenced. We didn’t know at that time,
how much we ended up relying on some of those things!

We continued the Ketogenic Diet for around six months and stopped due to it being discovered that Rhys could have his hemispherotomy surgery re-done. Prior to the diet, Rhys was having as many as 10 clusters of drop seizures a day. Once he was achieving good ketone levels regularly, his head seemed clearer and the length of time per day that he was having seizures decreased by a half to three quarters and he was never hungry.

I soon knew all of the weight allowances for the common items in his food choices and challenged myself to match his meals with the rest of the family. When we ate out, I prepared him food to take along and, more often than not, he was not aware that he wasn’t eating from the restaurant menu. He did not miss sweets and treats as he was allowed sugar free jelly and I baked him ketogenic cupcakes and biscuits and made ketogenic cocoa truffles and ketogenic chocolate yoghurt.

At the time of going on the diet, Rhys had tried so many medications and this offered an alternative. It is known that Sturge Weber Syndrome is notorious for difficult-to-control epilepsy so we were genuinely grateful to be making some difference for him on a daily basis. We are so thankful and pleased now to say that Rhys is doing fantastically well following his latest operation so long may it continue this time.

Emma says…..

Once again another fantastic and inspirational  story. Well done Rhys – your KETOSTAR award and prize is on its way to you. For those of you who would like to know more about Sturge-Weber Syndrome then please visit www.sturgeweber.org.uk