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Penelope’s Dravet Journey

Last Reviewed 10/09/2020

By Dravet Syndrome UK

The Dravet journey begins

Penelope was born on 22 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.

Exactly six months later, on 22 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 thought, 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 Syndrome, 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.

Joining Dravet Syndrome UK (DSUK)

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.

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.

Photo of Penny

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.

About the Genetics of Dravet Syndrome

For more information about the underlying causes of Dravet Syndrome, visit DSUK’s new online resource, the ‘Genetics of Dravet Syndrome’.

Co-authored by our Medical Advisory Board member, Dr Andreas Brunklaus (a leading expert in this area), the web resource is a comprehensive introduction to the underlying genetic causes of Dravet Syndrome. It provides insights into role of SCN1A as well as other genetic mutations associated with Dravet Syndrome. There’s guidance on genetic testing and counselling, and insights into the latest developments in gene therapy.

About Dravet Syndrome UK

Dravet Syndrome UK (DSUK) is an independent charity dedicated to improving the lives of those affected by Dravet Syndrome through support, education and medical research. We do this by:

  • Supporting families affected by Dravet Syndrome emotionally, practically and financially.
  • Raising awareness and understanding of Dravet Syndrome among medical professionals.
  • Funding medical research to increase understanding of Dravet Syndrome, improve its management, work towards better outcomes and to hopefully one day find a cure.

For more information visit: dravet.org.uk.

We’d like to hear from you. Get in touch to share your experiences of having a genetic condition or supporting someone who does: [email protected].

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