Grupos e redes de apoio para famílias que enfrentam um diagnóstico
Para muitas famílias, a jornada para o diagnóstico pode ser longa e difícil.
Pode haver muitos obstáculos ao longo do caminho, incluindo:
- Falta de acesso a atenção médica, especialistas e cuidados corretos.
- Falta de acesso às informações corretas sobre a possível síndromes genética ou doença rara que a família enfrenta.
- A possibilidade de diagnóstico incorreto.
- Ficar preso em uma jornada de diagnóstico, sem saber onde e como acessar as informações corretas ou especialistas médicos e testes para chegar a um diagnóstico.
- Falta de apoio enquanto a família navega por uma nova realidade e 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 Odisséia Diagnóstica, to a diagnosis and beyond by other patients and their families with the same rare genetic syndrome.
Os grupos de apoio e suas redes são uma parte fundamental desse apoio. Eles conectam famílias a outras famílias que passaram por experiências semelhantes e podem educar, informar e acompanhar famílias durante um diagnóstico e além. Muitos deles também estão envolvidos no trabalho de defesa de pacientes com doenças raras na esfera pública e se esforçam para criar mais consciência sobre síndromes genéticas raras específicas e os indivíduos afetados por elas.
Sociedade 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.
Associação Nacional para Síndromes de Down:
This organization engages in advocacy, research, and support for Baixa Síndromes 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.
Associação de síndromes 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.
Associação de Conscientização sobre a Síndromes de Noonan:
This Australian based support group works closely with medical professionals to improve the diagnosis rate while reducing the rate of misdiagnosis for Noonan Síndromes 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.
