In 2019, the number of families living with Dravet Syndrome that DSUK supports grew to over 500. The Podmore family joined us in August 2019, shortly after 20-month year old Penelope was diagnosed with Dravet Syndrome. Carrie, Penelope’s mum, tells us about the family’s Dravet journey so far and how support from DSUK has helped to make a difference.
Penelope was born on the 22nd December 2017. It was a very normal delivery and Penny was a happy healthy baby. Adam and I couldn’t wait to take her home to meet her two older siblings, Ruby and Teddy, and enjoy our new addition to the family.
The Dravet journey begins
Exactly six months later, on the 22nd June 2018, I witnessed Penny’s first seizure. At first sight, it wasn’t obvious. I had never seen a seizure before and my first thoughts, with her being so young, was that she was having some sort of heart problem. We called an ambulance and the seizure stopped just as the paramedics arrived. It was 13 minutes long. She had a slight fever (37.8). Having two older children, I wouldn’t have batted an eyelid at that figure. She gave no signs of viral illness and ate well all day.
We went to Sheffield Children’s Hospital where she was checked over and we were discharged. It was thought Penny had a febrile seizure and that she had tonsillitis. However, it was a warm day and so, knowing what we know now about Dravet, we think this was probably most likely to be the trigger. On that day, our Dravet journey began.
Diagnosing Dravet Syndrome
A few days later we were back up at the hospital. She was having focal seizures in clusters. I started to flit around the internet to see what I could find. I found Dravet Syndrome and was devastated. I knew this was what Penny had. She ticked all the boxes.
In November 2018, Penny suffered a particularly tough seizure. She was intubated and placed in intensive care for the first time (unfortunately not the last). At this point the consultant agreed to a genetic test for the SCN1A gene. In August 2019, the results came back positive - Penny has a SCN1A mutation.
Although this confirmation of what we already suspected was difficult, it also made things a lot easier. With the letter of diagnosis, we were able to join DSUK (I had looked at their website time and time again before the diagnosis) and gain access to the wealth of knowledge available via the Facebook Parents and Carers Forum.
DSUK provided us with a grant from their Seizure Monitor Fund for a Pulse Oximeter, which monitors Penny’s heart rate and oxygen levels and alerts us to potential seizures.
In November 2019, we attended the DUSK Conference in London. We left the day feeling very positive, as it became apparent that there are professionals fighting to get a better understanding of our children’s condition and to find a way to better manage it. There is activity happening behind the scenes all the time, and I would highly recommend attending a future conference, if you can get there.
We have recently booked the Center Parcs weekend and cannot wait to meet other Dravet children, parents and siblings. Sometimes, it can be quite an isolating condition and no matter how hard people try, they never fully understand what a Dravet family goes through on a daily, hourly and sometimes minute by minute basis. This is what makes the Center Parcs weekend so special, there are lots of people there who are in the same situation as you and your family.
Our other two children, Ruby and Teddy, were nominated by family members for the DSUK Super Sibling award and recently were awarded with a certificate, a lovely Dravet bear and an amazon gift voucher. The excitement for them was immense when they received something through the post with their names on. They are both such valuable members of ‘Team Pod’, so this really gave them some great encouragement to keep up the good work.
Penny today - an amazing little girl
Penny is doing well at the moment. She is on the Ketogenic diet and three other medicines. She goes to nursery three afternoons per week and we are putting things in place ready for when she starts school. She’s walking and saying the odd word. She isn’t as developed as her peers, but we have come to terms with that and we are pushing her forward as best we can.
For all that Penny goes through, a lot of the time you would never know she has Dravet Syndrome. She’s a very happy little girl and very much loved by us all.
Our advice to any recently diagnosed family would be that it’s not all doom and gloom, once you get your head around it. It’s not what we would choose for our children, and you will have your good days and your bad, but they will amaze you every single day.