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 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 to guide families through a diagnosis and all of its implications for the child and the wider family. They can provide information, and connect parents to specialists, geneticists, and support groups.

The life of a child with a genetic syndrome may often 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.

Medical Care

Genetic disorders in children may present with various symptoms that vary in complexity and severity. Understanding how to manage these complex medical needs will often require the assistance of a multidisciplinary medical team and a medical support network. 

Support

Connecting with other families whose children have received the same diagnosis can help families navigate 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 for connecting with specialists, understanding 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 mark the start of 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. 

A rare disease diagnosis can assist families in understanding and navigating genetic syndromes and rare diseases, including Williams syndrome and others, navigating the journey ahead can be challenging. To support you in this process, the Child Development Checker app is an invaluable resource. It helps assess your child’s developmental and genetic concerns, providing early and accurate insights essential for effective interventions.

Additionally, the “Connect to an Expert” feature ensures you have access to experienced genetic professionals for personalized guidance and support. Empower your child’s health management using the Child Development Checker app today, and connect with experts whenever you need them.