Why should you keep filling out surveys about life with Dravet syndrome? Repeated requests to fill out surveys can start to feel repetitive and when results take months or years to be released, it may feel like your input is not making a meaningful difference. However, I would like to encourage you in today’s blog post that the patient-community voice is one of the absolute most important aspects in pushing research and knowledge surrounding Dravet syndrome (DS) forward.

Researchers can use a mouse or a fish to model the genetics and certain aspects, like seizures, of DS. Yet, as has been discussed often in the DSF Research Reviews, these animal models are not tiny humans, and not every aspect of DS can be studied in this way. Hence, it is of great importance that the patient community participate in research efforts that broaden the understanding of the full picture of DS. In this case, the caregiver voice is often the only window into the realities of living with DS. While experience sharing and the human connection is often what hooks people in positions of power to listen and put their efforts behind a cause, there needs to be data to support that what is presented as one individual’s experience is representative of the larger patient community’s needs. The personal story sharing and the research data can then be used in combination to affect policies, programs, and procedures that impact outcomes for the entire community.

Researchers need to gather direct information from large numbers of patients and/or caregivers to best understand all the complexities of a particular disease. For example, these types of studies, once published to the general public, can be used to determine what important outcomes should be measured when testing a new therapy in a clinical trial, or even guide what types of therapies might be candidates for potential treatments. While seizures have been the obvious and most easily measurable target in DS, it is clear from research using surveys of the community, including one study headed by DSF under the PCOR intiative, that many of the other comorbidities and aspects of DS are as impactful to daily life as the seizures themselves (Villas et al 2017, DOI: 10.1016/j.yebeh.2017.06.031; Knupp et al 2017, DOI:10.1016/j.pediatrneurol.2017.06.008; Nabbout et al 2019, DOI: 10.1111/dmcn.14186). Understanding both the seizure and non-seizure aspects of DS, and being able to present the proportion of patients affected by each comorbidity, directs researchers and clinicians in their understanding of DS and the best courses for treatment that will most improve quality of life overall. Another scenario in which surveys can be used is to guide community support services. An example would be the Sibling Survey conducted by Zogenix (recently published here), which informed about the ways siblings are impacted by DS and guided the development of VIP Sibling Kits to provide support to siblings of those affected by DS. Whether informing basic research efforts, directing outcome measurements in clinical trials, influencing policies through government agencies, or impacting the development of support programs, the power of patient and caregiver input is unmatched.

Today I have two survey opportunities for you to consider lending your voice to:

  1. A research study for caregivers of someone who has epilepsy and/or a genetic neurodevelopmental disorder. The University of Pennsylvania and Children’s Hospital Philadelphia (CHOP) are conducting the study because their researchers recognize a need for proper diagnosis and treatment of symptoms associated with neurodevelopmental disorders as well as the associated effects on patient quality-of-life. If you agree to take part in this study, you will be asked to answer questions about your demographics as well as your child’s medical history and quality of life. If you agree, the questionnaire will take about 20 minutes. The survey can be found here.
  2. A research project that asks about family history and experiences to better understand the challenges and concerns of parents of children with Dravet syndrome. The study is being led by Eric Johns, a graduate student in the Genetic Counseling Training Program at Emory University School of Medicine. The ultimate goal of this study is to improve the quality of counseling that can be provided to families of individuals with Dravet syndrome. You are invited to participate in the research project if you meet the following criteria: (1) Biological parent of at least one child who has/had a diagnosis of Dravet syndrome, (2) 18 years of age or older, (3) English-speaking resident of the United States. Upon completion of the survey, you will be offered a $20 gift card as compensation for your time until funds run out. The survey can be found hereThere is no direct benefit associated with participation in this study. Please feel free to contact eric.johns@emory.edu with any questions or concerns you may have regarding this project.