A Rare Disease Diagnosis
My child was diagnosed with a genetic condition: what now?
For many families, a rare disease diagnosis for a child will answer many questions, but at the same time raise so many more. A diagnosis may, in fact, signal the beginning of a journey into understanding more about their child’s condition, how it may affect their mental and physical development, how their child can be supported through their syndrome, and what impact this might have on the rest of the family.
Genetic counseling and support
Genetic counseling and support should not stop with a rare disease diagnosis. The role of a genetic counselor is also to guide families through a diagnosis and all of its implications for the child and wider family. They can provide information, connect parents to specialists and geneticists, and support groups. The life of a child with a genetic syndrome is destined to be one filled with many different medical professionals and possibly treatments too, and it is important families are connected to these specialists as early on in the diagnosis as possible.
Children with a rare genetic syndrome may present with various symptoms that may vary in their complexity and severity. Understanding how to manage their complex medical needs will often require the assistance of a multidisciplinary medical team and a medical support network.
Connecting with other families whose children have received the same diagnosis can immensely help families navigating their new reality. Support groups related to a specific genetic syndrome or rare disease diagnosis are sometimes the first place many parents turn to for help. They can be a wonderful resource in connecting with specialists, understanding more about a condition, and sharing experiences with other parents in the same boat.
For many families, a confirmed rare disease diagnosis will end a diagnostic journey that may have taken years to finish, while at the same time beginning a journey into fully understanding their child’s condition, symptoms, treatments, and options for support. Getting the right support along the way is crucial to ensuring the best quality of life for everyone involved.