Cornelia de Lange syndrome
What are the first steps after an initial diagnosis of Cornelia de Lange syndrome?
Getting a diagnosis of Cornelia de Lange syndrome can be overwhelming for a family. Because it is a relatively rare disorder, most families have not heard of Cornelia de Lange syndrome prior to their family member being diagnosed. The first step to take once the diagnosis is made is to have a visit with a medical geneticist or genetic counselor to learn about Cornelia de Lange syndrome, the implications for the family, and how to manage the medical and developmental issues that may affect the individual with Cornelia de Lange syndrome. Medical geneticists and genetic counselors can help ensure that an appropriate management and treatment plan is in place for the affected individual, as well as provide resources for more information for the family from trustworthy sources.
In addition, families may wish to connect with CdLs support and advocacy groups such as The CdLs Foundation that may help with daily living questions related to living with Cornelia de Lange syndrome.
The National Society of Genetic Counselor "Find a Genetic Counselor" online directory can be used to locate genetic counselors throughout the United States and Canada.