Helping families find the critical information and support they need
Serve the growing community of families who have children with severe developmental and epileptic ecnephlaopathies (DEEs) with practical and topical information as well as connections to improve the quality of life of their families.
Nurture the development and expansion of a robust community of families with children with severe DEEs providing accessible connections to information and other families. Provide a cohesive community across etiologies to support both research and advocacy focused on the often very distinct issues affecting families with children most severely affected by DEEs.
Children most severely affected by rare epilepsies and their families are the most isolated of an already marginalized population. Their needs and issues are very often distinct from less profoundly affected children within their disease population. Their voices and needs can often be overshadowed by families with the time, energy and focus to speak out, make connections, and advocate for their more highly functioning children. While these voices are critical, other voices are often lost.
The unimaginable 24/7 pressure of caring for profoundly disabled and medically complex children often means that this population has more in common with families with similarly presenting children with other rare epilepsies than those with the same genetic mutation. It is often difficult and challenging for this population to participate in community programs or activities – and thus there is a notable unmet need for relevant, accessible and flexible resources specifically designed for supporting this population.
At the same time, it appears that a number of the over 30 rare epilepsy organizations have developed some materials and services for and have valuable skills and expertise on topics of interest to this sub-population. Yet rarely are those materials actively shared with families outside their disease-specific population. In addition, with new genetic causes constantly being identified, many of the organizations are nascent and are operating with extremely limited resources.
The vital but under-met needs of this sub-population holds promise for a development of a hub or network of relevant services, tools and references already developed and available through existing rare epilepsy advocacy organizations. By creating a coordinating effort to directly promote open access to relevant webinars, resources, references, and links, this effort can not only expand and enhance support for these families, but offer efficiencies for many existing rare epilepsy organizations in provided needed specialized support benefiting this undeserved population.
The hub concept would be designed initiatives of existing organizations and provide previously inaccessible connections for families in disease groups who have not yet developed programs or resources for this distinct group of children. The hub will be structured, managed and organized to the reach of all existing organizations while actively encouraging all participating families to remain (or become) active in their individual disease-specific communities, particularly registries, research, fundraising, and drug trials. Specifically, this project will be
We believe that this to reducing the isolation of this population by providing this hub with information, support and connection to families experiencing similar challenges. It offers an efficient way to by recognizing that the core mission of most rare epilepsy organizations centers around pursuing research and new treatments for their specific disease while providing support services to families.
While not the initial focus of this effort, this collaborative effort may hold promise for efficiencies and new directions in some research topics. For example, there are promising hypotheses of a possible shared etiology or triggers which contribute to some children being far more profoundly impac
ted than other children with a similar genetic disorder. With the disease-specific funding priorities of nearly all rare epilepsy advocacy organizations, broader collaborations across organizations may hold promise for efficiently addressing these untapped avenues for understanding the severe phenotype of the rare childhood epilepsies. Such cross-cutting research could present an unexplored avenue to the potential development of treatments and strategies specifically to improve the quality of life of the most severely affected children across a range of rare epilepsies.
Working definition of “severe genetic epilepsies”: Seizures are refractory, children are severely developmentally disabled; children are minimally mobile, nonverbal, often with impaired vision, and tend to suffer from many severe comorbidities (e.g. frequent respiratory failure). This definition is in no way meant to be comprehensive or exclusionary. For the purposes of this effort, families can self-select whether the content provided applies to their situation and whether the support provided by this group is useful to them.
A regular on issues relevant to families dealing with severe DEEs be co-hosted by diverse rare epilepsy organizations on topics which they hold expertise and are most relevant to families. The webinars will be recorded so that families unable to attend can view the webinar as their schedules allow.
Provide a to include recorded webinars as well as a comprehensive list of available materials and resources on issues relevant to severe DEEs