Arlo would suffer very serious seizures resulting in status epilepticus about once a month. Often these seizures would last for over an hour and a half.
During this period, Arlo would suffer very serious seizures resulting in status epilepticus about once a month. Often these seizures would last for over an hour and a half. I have lost count of the number he endured. By the time Arlo was two, I had independently researched complex epilepsies and discovered Dravet syndrome. After further reading, I became convinced that this was Arlo’s condition.
We discussed the likelihood of this with his doctors and they told us that they didn’t think he had it because he was developing. He was not on a normal developmental track but there was progress. We were still waiting for the gene mapping of his blood tests to come back, so it was a relief for us that the doctors didn’t think he had it. We thought, at least he hasn’t got Dravet!!! 18 months after his bloods were taken, when Arlo was just three, we received a call from his consultant at GOSH who told us that Arlo had tested positive for the SCN1a gene mutation. He had an exon deletion. He had Dravet Syndrome!!!
At first, the diagnosis was a relief. As strange as it may seem, to know finally what had been causing these terrible seizures was a relief. One of our first actions was to contact the Dravet Syndrome UK charity. It was about a month before the annual Center Parcs trip so we thought we would go along and meet other families. The weekend began as a real shock. We looked at our little boy who was slightly delayed and saw these older children/adults who looked very disabled to us. However, it was also the most amazing weekend.
Being surrounded by families whose children and teenagers had and were going through similar experiences and to compare notes and experiences was refreshing and enlightening and comforting. To these other families, what we were going through wasn’t weird, they just understood. It also helped us come to terms with facing the future, and to learn a little of the expected progress of the condition.
Arlo is now the most wonderful, happy, loving, funny little boy who can scarcely speak, displays autistic behaviours, currently doesn’t eat solid food, is awake for 3-4 hours each night, and lacks any sense of any danger. He enjoys watching cars drive by on local busy roads, swimming and hearing nursery rhymes. When he’s happy he can’t contain his the joy and it spills out of him in the form of flapping his arms. He has a younger sister, Coco, who absolutely adores her older brother.
Arlo was crawling at 5 months, and walking by a year. He started speaking at one year old too. It wasn’t until he was 14 months that I started to notice difference between him and his peers. By the time Arlo was two, it was clear that he wasn’t developing like the other children. For us, this was one of the hardest things to come to terms with. To see all his peers over taking him and leaving him behind was extremely stressful. But it was only us that found it painful to realise he was on a different track to his friends, he was not bothered one bit. But we minded.
There is a kind of grief associated with the discovery your child will never live independently. After meeting other families with Dravet, and once Arlo was in a safe and appropriate environment for him at his special school, we came to terms with the delay. Now Arlo has a place where he belongs and he enjoys going, and anyone who spent a day with this child would leave in no doubt that, other than the daily seizures, he lives a blissful and fulfilled life, and long may that last.