Genetic counselors are often part of a clinical team that can help families answer this question. The first step in answering this question is to clearly define what the rare genetic disorder is. Genetic counselors will often collect information about the relationship and health of other family members (called a family history) as well as information about the pregnancy, birth process and early childhood development of a child who is being evaluated. Sometimes genetic counselors will help research the physical findings or learn which laboratories are best able to help make a diagnosis for a family. However, occasionally even with best efforts, it is difficult to clearly define the genetic disorder that a child has.
Regardless of whether a disorder is clearly defined or not,
genetic counselors can often help families obtain support.
Sometimes, it is a matter of identifying local families who have
similar problems with parts of the disorder (such as a hearing or
learning problem). Other times, genetic counselors can help find
families in other parts of a state or even the country, especially
if the condition is rare. Often, genetic counselors will contact
their colleagues or tap into the Alliance of Genetic Support
Groups to help families with questions such as this find each