Resumen
¿Qué es la epilepsia?
Epilepsy is a chronic seizure disorder. Las convulsiones son una interrupción de la comunicación eléctrica en el cerebro. Provoked seizures result from damage or inflammation caused by another condition such as stroke, infection, or electrolyte disturbance. Unprovoked seizures do not have a known cause.1
Hay muchos tipos diferentes de convulsiones. Focal (partial) seizures, which begins in one brain hemisphere, can be simple or complex depending on whether or not the patient loses consciousness during the seizure. Generalized seizures, which begin in both hemispheres of the brain, can be classified as absence, tonic, atonic, clonic, myoclonic, or tonic-clonic. The types of seizures depends on what kind of symptoms occur during the seizure.
Epilepsy syndromes are diagnoses which describe the combination of specific type of seizures, symptoms, and/or underlying genetic cause. Different types of seizure disorders respond to various seizure medications.
Examples of some seizure disorders treated by specialty medication dispensed by Accredo are below:
Dravet Syndrome (DS) is a severe form of epilepsy which appears in the first year of life in infants. More than 80% of patients with DS have a mutation in the SCN1A gene, a gene for the sodium ion channel. The sodium ion channel is important in the conduction electrical signals of any tissue including the brain. Seizures are often triggered by high body temperature, ataxia, sleep disturbances and other health problems.
Infantile spasms (also known as West syndrome) usually occur between 3 and 10 months of age. The spasms may look like a violent jackknife movement or just a mild twitch. El tratamiento con medicamentos es necesario para controlar las convulsiones y, con suerte, detenerlas completamente. Incluso con medicamentos, es posible que se desarrolle otro síndrome epiléptico o una discapacidad intelectual.
Lennox Gastaut Syndrome (LGS) is a difficult to treat form of epilepsy that usually presents in infancy or early childhood. Children with LGS may experience different types of seizures (atonic, tonic and atypical absence seizures), cognitive disabilities and delays in development. LGS is resistant to many ant-seizure medications but research is still continuing to identify new therapies.
Tuberous Sclerosis Complex is a rare genetic disease which leads to the growth of non-malignant tumors, called hamartomas, on various organs of the body. Mutations in the TSC1 or TSC2 genes have been known to lead to Tuberous Sclerosis, these mutations can happens for unknown reasons or be inherited as autosomal dominant trait. Most cases are from new gene mutations in individuals with no family history of the disease.
¿Cuán frecuente es la epilepsia?
Todos los años, 150.000 personas son diagnosticadas con epilepsia. In the United States, 3,4 million people have epilepsy: 3 million adults and 470.000 children. At least 1 million people have uncontrolled Epilepsy.2
Dravet Syndrome only accounts for 0,17% of all epilepsies. Dravet Syndrome is a rare disease that only affects 0,0064% of individuals in the United Stated, but approximately 80-90% of those individuals have a SCN1A mutation.3
Infantile spasms is estimated to occur in 3 per 10.000 live births in the United States and accounts for 30% of all infant epilepsy cases. It is slightly more common in males, with 60% of the cases. It affects approximately 2.500 children in the United States every year.4
Lennox Gastaut Syndrome is believed to account for 1-4% of all childhood epilepsy, usually affecting children between 2- 7 years of age. It is slightly more common in males and estimated to occur in 2 per 100.000 children every year.5
Tuberous Sclerosis Complex affects between 40.000-80.000 Amercians. It is diagnosed in approximately 1 in 6,0000 newborns in the United States. All races, ethnic groups and genders are equally affected.6
¿Tiene preguntas relacionadas con su terapia para la epilepsia?
Puede ponerse en contacto con el equipo de atención neurocientífica de Accredo, en cualquier momento, de día o de noche, los siete días de la semana.
Centro de Servicio al Cliente las 24 horas
- 1"Epilepsy | MedlinePlus." MedlinePlus Trusted Health Information for You, 2017. https://medlineplus.gov/epilepsy.html Accessed 15 February 2023.
- 2"Facts & Statistics About Epilepsy" Epilepsy Foundation, 2019. https://www.epilepsy.com/what-is-epilepsy/statistics Accessed 13 February, 2023.
- 3"Dravet Syndrome." National Organization for Rare Disorders, 2020. https://rarediseases.org/rare-diseases/dravet-syndrome-spectrum/ Accessed 15 February 2023.
- 4"West Syndrome." National Organization for Rare Disorders, 2019. https://rarediseases.org/rare-diseases/west-syndrome/ Accessed 13 February 2023.
- 5"Lennox Gastaut syndrome." National Organization for Rare Disorders, 2020. https://rarediseases.org/rare-diseases/lennox-gastaut-syndrome/ Accessed 15 February 2023.
- 6"Tuberou Sclerosis" National Organization for Rare Disorders, 2020. https://rarediseases.org/rare-diseases/Tuberous%20Sclerosis/ Accessed 15 February 2023.
Síntomas
What are the symptoms of a Seizure?
Seizure symptoms differ greatly by seizure disorder and person by person. They can be subtle or dramatic. Someone affected by a seizure may be unaware the seizure occurred.
- pérdida de la consciencia o del conocimiento; inconsciencia,
- confusión temporal, mirada fija,
- hormigueo o mareo,
- movimientos bruscos incontrolables de los brazos y las piernas,
- movimientos repetitivos,
- rigidez muscular; pérdida del control muscular;
- cambios emocionales, como miedo, ansiedad o déjà vu,
- pérdida de la función intestinal o de la vejiga,
- cambio en los sentidos (gusto, olfato, vista, audición, tacto),
- temblores,
- morderse la lengua.
¿Cómo se diagnostica?
- Una prueba de ondas cerebrales (electroencefalograma, EEG) para buscar cambios en las ondas cerebrales.
- Blood tests to look for any medical disorders causing the seizures
- CT scan or MRI to look for any abnormal areas in the brain, such as a tumor or infection
- Physical exam and screenings to assess motor, thinking, memory and speech skills, helps determine which areas of brain are affected
Medicamentos
Epilepsia
Los siguientes medicamentos especializados están disponibles en Accredo, una farmacia especializada en epilepsia.
Financiación de su atención
Es posible que haya asistencia financiera disponible para ayudarlo con los costos de sus medicamentos, incluidos programas de los fabricantes y programas comunitarios. Los especialistas de Accredo están disponibles para ayudarlo a encontrar un programa que funcione para usted.
Recursos económicos comunitarios
- Epilepsy Foundation Patient Assistance 800-332-1000
- Acthar Patient Assistance Program
- Epidiolex® Copay Savings Program
- Programa Sabril® SharePlus
- Vigabatrin (Amneal Vigabatrin Savings Program)
- Vigabatrin (Dr. Reddy’s CoPay Card Programs)
- Vigabatrin (PAR Patient Assistance Program) 833-PAR-HELP
- Vigabatrin (Teva Patient Assistance Programs)
Orientación financiera
Los medicamentos de especialidad que salvan vidas pueden ser costosos. Conozca en este video cómo los equipos Accredo ayudan a las personas a encontrar formas de costear el medicamento que necesitan para sobrevivir.
Encuentre apoyo
Organizaciones dedicadas a la epilepsia
Hay muchas organizaciones que apoyan la investigación y promoción de la epilepsia. Consulte a continuación algunas de estas organizaciones.
Organizaciones de apoyo
- Epilepsy Foundation
- Organización Nacional de Trastornos Poco Frecuentes (National Organization for Rare Disorders, NORD)
- Intractable Childhood Epilepsy Alliance
- Child Neurology Foundation
- LGS Foundation Inc.
- Dravet Syndrome Foundation Inc.
- TSC Alliance
Organizaciones gubernamentales
Conozca al equipo
El equipo de atención de epilepsia de Accredo se dedica a servirle y entiende la complejidad de su afección. Nuestros médicos clínicos expertos están disponibles 24 horas al día, los siete días de la semana para responder a cualquier pregunta.
Por qué lo hacemos
Accredo brinda apoyo a pacientes con afecciones crónicas y complejas, y los ayuda a vivir mejor su vida. Mire nuestro video para conocer por qué hacemos lo que hacemos por nuestros pacientes.