The calendar year is dotted with awareness days and weeks for a wide range of conditions, from the most well-known to the most rare.
This month’s awareness campaign for Dravet syndrome (which culminates in an international day of awareness on June 23) falls into the latter category.
“Nurses have an under-recognized value in making a positive difference for people living with rare diseases”
But are these awareness days really important? Especially to non-specialist nurses who might not regularly see patients with rare diseases?
In my opinion, the answer is not only an emphatic “yes”, but also that nurses have an under-recognized value in making a positive difference for people living with rare diseases. The Dravet syndrome awareness campaign is a great example of why this is so.
Dravet syndrome is a complex, life-limiting epilepsy that also includes a wide range of comorbidities, including learning disabilities, autism, ADHD, challenging behavior and difficulties with speech and language, mobility, food and sleep.
Although officially a “rare” condition, occurring in approximately 1 in 15,000 live births, Dravet syndrome is one of the most common genetic epilepsies, as well as one of the most resistant to treatment.
In recent years, advances in scientific understanding and more accurate genetic testing (more than 85% of patients have a variation in the SCN1A gene) have improved the diagnosis of Dravet syndrome.
But awareness is needed to draw attention to these advances if they are to bring tangible benefits to as many patients and their families as possible.
It’s awareness and education that has helped dismantle harmful myths, like the misperception that Dravet is a childhood syndrome or that seizures go away in adulthood.
This is not the case; Although Dravet syndrome begins in early childhood, people with Dravet syndrome will have very complex lifelong needs and will rarely live independently into adulthood.
Fortunately, we are now seeing more adults with Dravet syndrome than ever before, due to a combination of improved retrospective diagnosis in adults and older children, earlier diagnosis in infancy, and the use of specifically targeted anti-epileptic drugs.
This means that nurses from all fields, not just pediatrics or epilepsy and neurology specialties, will potentially encounter patients with Dravet syndrome.
Nurses have a crucial role to play in supporting both the patient and their family after diagnosis. Collaborative multidisciplinary care is essential if individuals are to survive and thrive while living with this catastrophic condition.
At Evelina London Children’s Hospital (ELCH), we have set up a specific Dravet Clinic for children and young people with Dravet Syndrome to ensure a holistic approach to meeting all the needs of the young person with Dravet Syndrome.
Raising awareness of Dravet syndrome among all colleagues involved in their care is essential to the success of this approach.
“Nurses have a crucial role to play in supporting both the patient and their family after diagnosis”
Whilst we have been able to spread our knowledge among our pediatrician colleagues within the South East Thames Network Group (Setpeg), there is now a need to ensure that our adult colleagues are more aware of the very specific needs of these young people as they lead to adulthood.
With this in mind, we are working closely with teams at King’s College Hospital and the National Hospital for Neurology and Neurosurgery (NHNN), Queen Square, to support the transition.
However, there remains a significant need for increased awareness and understanding of Dravet syndrome in the adult population to ensure improved and equitable services across the UK.
For these people, who unfortunately can have a very poor quality of life without access to appropriate care, awareness really matters. As frontline healthcare professionals, nurses are well positioned to make a positive difference.
If you would like more information about Dravet Syndrome or if you come across a patient who has a diagnosis (or a possible diagnosis) of this disease, please contact Dravet Syndrome UK, the charity behind the campaign to outreach this month (I also act as a medical advisor to this organization).
As well as providing education and awareness, Dravet Syndrome UK offers emotional, practical and financial support to affected families. Their website is a great place to start with a wealth of helpful information and resources.
Amanda Tomalin, RGN/RSCN, BSc (Hons) Child Health, MSc Epilepsy, is a Clinical Nurse Specialist in Pediatric Epilepsy at Evelina London Children’s Hospital and Medical Advisor to Dravet Syndrome UK