RARE Toolkits

Below is a list of all of our current RARE Toolkits.


Who to Tell?

In making a decision about with whom patients might choose to discuss their genetic-based rare disease, one factor to consider is whether the genetic mutation driving the disease is from both parents, one parent, can be carried by siblings, or represents a new mutation.

Though many people may value their privacy and consider their rare disease nobody’s business but their own, there are many reasons why patients or parents of children with a rare disease might choose to share that information with others.


Any medical professional that provides care should be informed of a patient’s rare disease even if the doctor is not treating the patient for that condition. The condition can carry risks for certain procedures or medications and may also explain symptoms that patients think are unrelated to the disease.

Family Members

Family members, particularly those who may share the same genes, should be told if they may be carrying a mutation that can cause a rare disease if they are at risk for having that disease or at risk for passing it on to a child. They might want to seek genetic testing to determine if they too have the mutation.

In discussing a genetic-based rare disease with family members, it is helpful to tell them about a specific test they may want to have performed, provide them with a copy of their test results, and refer them to their genetic counselor. Though the risks are highest for first degree relatives (parents, siblings, children), other relatives may also share an aberrant gene.

Family dynamics vary and for some people these are difficult conversations to have. As much as someone with a rare disease may want someone in their family to be tested, they will not be able to force them to do so. For a variety of reasons, some people will not want to know if they carry a genetic condition.

Explaining a Disease to a Child

Genetic counselors will develop a plan with the parents before an actual diagnosis to determine whether they want the child in the room at the time of the diagnosis or if they want to explain it to them. Genetic counselors can help gauge the child’s level of understanding and what they need to know. They can also help a parent explain to a child why they are getting a certain test and what the results mean.

Children who have a disease will need to know how to live with it and while parents may want to shield their children from unhappy news, they may find their children are more resilient and capable of understanding their condition than they thought. A genetic counselor can help parents work through how to talk to them and what it means to them.

“Parents think the children don’t know things, but they do,” says the genetic counselor Michelle Fox. “For instance, if they are coming to the doctor repeatedly, they do know something is wrong.”

Teachers and Others

There are reasons why patients and their parents may choose to share information with teachers and other about their rare disease. This is not just because of safety issues, but to help them understand certain conditions that have outward manifestations that cause others to have concern either about the individual or their own risks of catching something they don’t understand.