Groupes et réseaux de soutien pour les familles confrontées à un diagnostic
Pour de nombreuses familles, le chemin vers un diagnostic peut être long et difficile.
Il peut y avoir de nombreux obstacles en cours de route, notamment:
- Manque d'accès aux soins médicaux, aux spécialistes et aux soins appropriés.
- Manque d'accès aux bonnes informations sur l'éventuel syndrome génétique ou maladie rare à laquelle la famille est confrontée.
- La possibilité d'un diagnostic erroné.
- Être coincé dans un parcours de diagnostic, ne pas savoir où et comment accéder aux bonnes informations ou aux médecins spécialistes et aux tests pour parvenir à un diagnostic.
- Manque de soutien alors que la famille navigue dans une nouvelle réalité et un nouveau futur.
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 Odyssée diagnostique, to a diagnosis and beyond by other patients and their families with the same rare genetic syndrome.
Les groupes de soutien et leurs réseaux sont un élément clé de ce soutien. Ils relient les familles à d'autres familles qui ont vécu des expériences similaires et ils peuvent éduquer, informer et accompagner les familles à travers un diagnostic et au-delà. Beaucoup d'entre eux sont également impliqués dans le travail de plaidoyer pour les patients atteints de maladies rares dans la sphère publique et s'efforcent de sensibiliser davantage aux syndromes génétiques rares spécifiques et aux personnes qui en sont atteintes.
Société 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.
Association nationale pour le syndrome de Down:
This organization engages in advocacy, research, and support for Vers le bas Syndrome 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.
Association du syndrome 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.
Association de sensibilisation au syndrome de Noonan:
This Australian based support group works closely with medical professionals to improve the diagnosis rate while reducing the rate of misdiagnosis for Midi Syndrome 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.
