Grupos y redes de apoyo para familias que enfrentan un diagnóstico
Para muchas familias, el camino hacia un diagnóstico puede ser largo y difícil.
Puede haber muchos obstáculos en el camino, que incluyen:
- Falta de acceso a la atención médica, los especialistas y la atención adecuados.
- Falta de acceso a la información correcta sobre el posible síndrome genético o enfermedad rara que enfrenta la familia.
- La posibilidad de un diagnóstico erróneo.
- Estar varado en un viaje de diagnóstico, inseguro de dónde y cómo acceder a la información correcta o especialistas médicos y pruebas para llegar a un diagnóstico.
- Falta de apoyo mientras la familia navega por una nueva realidad y futuro.
Ensuring families have access to the right medical care is, of course, essential. But equally important is that families are supported through their diagnostic journey, or in some cases their Odisea diagnóstica, to a diagnosis and beyond by other patients and their families with the same rare genetic syndrome.
Los grupos de apoyo y sus redes son una parte clave de este apoyo. Conectan a las familias con otras familias que han pasado por experiencias similares, y pueden educar, informar y acompañar a las familias a través de un diagnóstico y más allá. Muchos de ellos también están involucrados en el trabajo de defensa de los pacientes con enfermedades raras dentro de la esfera pública y se esfuerzan por crear más conciencia sobre síndromes genéticos raros específicos y las personas afectadas por ellos.
Sociedad MPS:
Providing support for families and patients with MPS (Mucopolysaccharide), Fabry, and related disorders. This UK-based support group was founded in 1982 and aims to further research and treatment into rare genetic syndromes and their symptoms.
Asociación Nacional para el síndrome de Down:
This organization engages in advocacy, research, and support for Síndrome de Down patients and their families. This US-based association is committed to furthering public policy on Down syndrome and educating both families and the general public about down syndrome.
Asociación de Síndrome de Williams:
This association for Williams syndrome was established in 1982. It provides both day to day support for patients and their families, as well as more long term education, research, and advocacy for the syndrome. They also offer support for specific educational strategies to help Williams syndrome children in school.
Asociación de Concientización sobre el Síndrome de Noonan:
This Australian based support group works closely with medical professionals to improve the diagnosis rate while reducing the rate of misdiagnosis for Síndrome de Noonan families. They support both medical professionals and families in coming to a Noonan syndrome diagnosis and managing the care of those affected with the syndrome.
Connecting patients and their families with the tools and support to ensure they receive a faster, more accurate genetic analysis and diagnosis is essential in improving the outcomes for individuals with a rare disease. Support groups and genetic counselors worldwide are offering crucial and critical services for families, and the public, as they advocate for the needs of rare disease patients.
A professional will enrich one’s understanding of certain rare genetic syndromes including Aarskog-Scott syndrome and others. Booking a session with a genetic counselor will be incredibly beneficial in supporting you and your loved ones in fully understanding the diagnosis and targeting pathways for treatment.
