Like cancer, epilepsy is NOT a single disease. It is a spectrum of underlying causes, experiences, severities, and outcomes.
As we celebrate National Epilepsy Awareness Month (NEAM) - we strive to raise awareness of the fast growing rare causes of the epilepsies or rare epilepsies.
While epilepsy is not rare, there are a growing number of rare causes of epilepsy. Rare diseases are defined as conditions that impact fewer than 200,000 persons. Rare causes of epilepsy include new genetic diagnoses, as well as structural, infectious, metabolic, and immune causes as well. With improved genetic testing and imaging, many people are able to get diagnosed earlier as infants or young children. Understanding the specific cause of your epilepsy informs decisions about treatment, management, and care.
Despite progress in diagnostics, 50% of all people diagnosed with epilepsy do NOT know the underlying cause.
Whether you are newly diagnosed or living with epilepsy for a long time, it is critical to advocate to identify the underlying cause. Ask your care providers about genetic testing and for a referral to an accredited Level 3 or 4 epilepsy specialty center where they have more experience and diagnostic tools. This is especially true for treatment resistant epilepsy no matter what your age.
Persons diagnosed with rare epilepsies are often dealing with treatment resistant seizures and multiple comorbidities. These may include:
cognitive concerns like memory or learning disabilities,
developmental delays and skill losses or declines,
psychiatric concerns including depression, anxiety, and Autism Spectrum disorders,
behavioral concerns including rages, and
medical concerns across language; mobility and motor; sleep; respiratory systems ; gastrointestinal, feeding and digestive disorders; migraines and more.
The most severe epilepsies that are characterized both by seizures (often drug-resistant, multiple types, starting early), as well as encephalopathy (significant developmental delay or even loss of developmental skills) are called Developmental & Epileptic Encephalopathies (DEEs).
For loved ones living with rare, refractory, severe or complex epilepsy, their quality of life may be severely impacted by more than just the seizures. The toll on caregivers may be significant as well.
The Rare Epilepsies are a fast growing part of the larger epilepsy community and we stand in solidarity with all persons touched by epilepsy this November. If you are diagnosed with a rare epilepsy, find your community among the Rare Epilepsy Network's 70+ rare epilepsy members.
If your disease is not represented by one of our member organizations, we want to connect with you too at email@example.com