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Arlo’s Story – Living with Dravet syndrome

Last Reviewed 4/12/2018

By Dravet Syndrome UK

My son Arlo was born in late October 2007, on his due date. He was a good size and we were thrilled to meet our little boy and take him home. For our first Christmas, we went to my parents’ and spent a wonderful day with the family. On Boxing Day, Arlo woke up and wasn’t himself, he had a cold, was very clingy and sleepy. I knew something wasn’t right, so when I went to have a shower I asked my husband to stay with him rather than just listen through the baby monitor. While I was in the shower Arlo had his first tonic clonic seizure (a type that affects the whole brain) –  it lasted 20 minutes.

At first, my husband asked my mother if his shaking was normal. She turned as white as a sheet and said ‘no!’. We called an ambulance. This was the first of our many trips to the hospital. There was no follow-up medical attention as a result of this first seizure; Arlo had used what the doctors called his ‘get out of jail free’ first seizure card, dismissing it as a one-off irregularity.

Arlo continued to have what we later learned were called ‘focal seizures’. His eyes would deviate to one side and I couldn’t draw his attention. He had a seizure of this type about once a fortnight. The episodes would often last 30 minutes and I would take the bus up to the hospital, but by the time I was seen he had returned to normal. This recurred, until one day when he was five months old he had another tonic clonic seizure, this time lasting about 30 minutes.

After this, Arlo started to be treated for epilepsy. He was sent for an electroencephalogram (EEG) and Magnetic resonance imaging (MRI) scans as well as blood tests. Our care was transferred to Great Ormond Street Hospital (GOSH). They worked hard to establish a cause, and although they were very open with us at all stages, all of the presented possible causes were depressing. At this point all of his seizures were triggered by fever or infection and his temperature didn’t have to be particularly high to cause a seizure onset.

During this period, Arlo would suffer very serious seizures resulting in status epilepticus (continuous epileptic fits without regaining consciousness in between) 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. I became convinced that this was Arlo’s condition.

Receiving the official diagnosis of Dravet syndrome was neither quick nor easy.

Arlo’s doctors were convinced that he was still developing and therefore it couldn’t be Dravet syndrome. After the genetic analysis of his blood revealed that he had an exon deletion in the SCN1A gene (a typical marker of Dravet), the doctors tried to say he had generalized epilepsy with febrile seizures plus (GEFS+). However, 18 months after his bloods were taken, when Arlo had just turned three and a half, 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 did have Dravet syndrome!

At first, the diagnosis was a relief. As strange as it may seem, to know the cause of 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.

Being surrounded by families whose children and teenagers had and were going through similar experiences and to compare notes and experiences was refreshing, enlightening and comforting. To these other families what we were going through wasn’t weird, they simply understood. It also helped us come to terms with facing the future, and to learn a little of the anticipated progress of the condition.

Arlo has always been a fussy eater and we were warned by his doctor that he may need a feeding tube at some point. We were horrified and in denial about the very prospect.  But when he was five, he stopped eating altogether and had to have an emergency gastrostomy to fit a tube. I can categorically say that this was the single best decision we have made for him.  It took away the stress and worry of him eating and in particular getting his medicine in him when needed.  Especially after a rough night of seizures for him.

Arlo started crawling at five months and was walking and talking by a year old. It wasn’t until he was 14 months that I started to notice differences between him and his peers. By the time Arlo was two, it was clear that he wasn’t developing at the rate of the other children. For us, this was one of the hardest parts of the condition to come to terms with. To see all his peers overtaking 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.

Arlo is now 11, his prolonged seizures have subsided, but he does have seizures every night and is still awake for many hours each night. He is very onerous to care for and requires one on one care 24 hours a day, which takes its toll.  We are very worried about how puberty will affect his seizures and behaviour and there is always lurking the latent spectra of sudden unexpected death in epilepsy (SUDEP).  But he is the most wonderful, happy, loving, funny boy. He enjoys watching his iPad, swimming and listening to nursery rhymes and trying to blow out candles on birthday cakes (whether or not it’s his birthday). When he’s happy he can’t contain his 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, she is now seven but he still calls her “Baby”.  We love him!

About Dravet Syndrome UK:

Dravet Syndrome is a rare neurological condition causing severe, difficult to control seizures, alongside varying degrees of learning disability and other issues, such as autism, mobility problems, speech difficulties and feeding problems. Dravet Syndrome UK is the only charity dedicated to changing the lives of those affected by Dravet Syndrome in the UK.  They have three aims: supporting families practically, emotionally and financially, raising awareness and funding vital research. Find out more here.

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