Get to Know Dravet Syndrome Foundation Spain (FSD)

About Dravet Syndrome

Dravet Syndrome (DS) is a rare, severe and disabling developmental and epileptic encephalopathy of genetic origin, with approximately 80 percent of affected patients harboring a mutation in the SCN1A gene. First described in 1978 by Dr Charlotte Dravet, it is also known as Severe Myoclonic Epilepsy of Infancy (SMEI). It affects children's developing brains and leaves them with serious neurological consequences. The estimated incidence of this catastrophic disease is 1 in 16’000 births.

The SCN1A gene encodes a sodium voltage channel called NaV1.1. The correct functioning of this channel allows the propagation of electric signals in the brain, which is disturbed in Dravet patients carrying a mutated SCN1A gene. Ninety percent of mutations in SCN1A are de novo, meaning that they are not present in the patient’s parents. However, 4-10% of SCN1A mutations are inherited, with a 50% of probability of being transferred to the children.

Dravet Syndrome Clinical Features

One of the most visible symptoms in DS is epilepsy. Epileptic seizures are episodes of altered brain function in the form of neuronal hyperexcitability. First seizures, usually generalized or unilateral clonic or tonic-clonic seizures, start at the age between 4 and 12 months and may be indiscernible from the regular febrile seizures common in many children. However, unlike the latest, DS initial seizures are usually prolonged and difficult to control, resulting in status epilepticus and requiring patient hospitalization in the ICUs. At older ages, other types of seizures occur, and secondary neurological conditions such as speech and behavioral problems, cognitive alterations, autism spectrum features, sleeping difficulties, orthopedic conditions, dysautonomia, etc. appear to a lesser or greater degree, depending on the patient.

Get to Know Dravet Syndrome Foundation Spain (FSD)

Dravet Syndrome Foundation Spain (FSD) was created in 2011 by a group of struggling parents that decided to support other Dravet syndrome families and fight the disease through research. Since then, multiple approaches to include the patient voice in research and policy development programs have been successfully followed by FSD.

FSD has 3 main pillars:

- Research: FSD is directly involved in DS research. Apart from participating in national and international studies for the development of strategies and formal studies, FSD provides the international scientific community with open-access tools, such as DS animal models. In particular, one of the Dravet mouse models developed by FSD is currently being used in the Epilepsy Therapy Screening Program (ETSP), a NINDS/NIH-funded, preclinical screening program designed to facilitate the discovery of new therapeutic agents for the treatment of epilepsy disorders. We also fund innovative, strategic research projects directly proposed to FSD or awarded via open calls.

- Family support: FSD offers emotional, material and financial support to caregivers. For instance, we just launched a program that offers a whole genome sequencing test to undiagnosed patients at no cost. Importantly, we also offer psychosocial support programs to siblings of DS patients, whose voice is often forgotten. Furthermore, we also provide families with financial relief grants and specific items to cope with the disease, such as anti-suffocation pillows or pulsioximeters.

- Awareness: This is definitely one of our strengths. If you come to Madrid, you may see one of the +250 Dravet public buses, or some of the many cabs that carry information about Dravet syndrome. We also have a number of trucks from the company Transportes Molinero carrying DS information on the sides of the trailers, raising awareness throughout Spain and Europe. We are also very active on social media, where we managed to have more than 65K followers in Facebook. Also, via our RetoDravet platform, FSD puts great efforts in promoting DS awareness through sport and different cultural and social initiatives. Some examples are the more than 90 Spanish towns which lit up in purple their emblematic buildings and monuments to commemorate the international DS awareness day last June 23rd, or the athletes around Spain wearing RetoDravet’s purple sport equipment to raise awareness.

I am especially proud of ...

Our organization was born to boost research, raise awareness and support families. In that context, since several years ago, we are providing a free genetic test to patients who are suspected to have Dravet syndrome. Initially we were providing an epilepsy panel, but this program has evolved, and we are now providing a free whole genome sequencing. Thanks to this program, the diagnostic odyssey has been shortened for hundreds of patients and families.

Excited to REN because...

As part of REN, we look forward to learning from and sharing our knowledge with a whole patient engagement community. By joining forces, we are sure we will be able to achieve our individual and common goals, which are the improvement of regulatory policies and frameworks and the development of novel research programs and therapies.

My journey and motivation...

Dravet Syndrome is a rare, severe and disabling disease, which impacts not only the patient, but also the whole family. However, much disease-modifying research is ongoing, which give us the hope to see better outcomes on our warriors. In this journey of hope, we want to thank each and every individual who is working on projects and iniatitives that have the potential to improve the quality of life of Dravet syndrome patients, and therefore their families.around the world.

By José Ángel Aibar, President of FSD