Seven Questions To Ask in a Variant Family Reunion

Many people with the same variant have a common ancestor (that’s why we call these meetings “family reunions”). Whether or not members of a group are actually related, they can still learn from each other and define a relationship for themselves. 

In the LMNA group, several people had no relatives with the variant—in their cases, the mutation was not inherited. Others had close relatives with the same diagnosis. One member explained that her family was not good at keeping its health history, so she didn’t know if her disease was inherited. Even with this range of backgrounds, the group was still able to share their personal health stories.

Talking to family members about health concerns often requires support from a team. A family reunion group can be that team.

One LMNA group member said that many of her relatives weren’t interested in learning about the variant. Another told the story of her mother, who wasn’t diagnosed until adulthood and was seen as lazy while growing up. Sharing those stories gave group members validation as they handled the difficulties of health and prevention conversations.

Comparing symptoms can build a greater understanding of the illness, especially for rare diseases.

In the LMNA group, everyone had a unique set of symptoms, some more severe than others.

“That’s one of the things that’s difficult about our disease,” one member said. “Nobody really knows what to look for.” Doctors may not recognize rare or mild complaints as related to the illness. The members of the group quizzed each other: Anyone else have neck issues? When did they start? They tried to identify shared symptoms that were not already included in scientific descriptions of their disease.

“There are more people in this call than in half the papers on LMNA,” a member noted.

Talking about treatments can help all group members make more informed decisions for themselves. Doctors use guidelines to treat diseases associated with mutations, but not every doctor interprets those recommendations the same way. Knowing about different interpretations can help patients advocate for themselves at their own doctors’ offices. Group members can also cheer on each other’s screening and prevention treatments.

Members of the LMNA group who had opted for surgeries and physical therapy shared their experiences, including side effects. They talked about whether the results were what they expected. Others who were considering those treatments were able to take those experiences into consideration.

Multiple people in the meeting had undergone a certain preventative procedure. One member’s cardiologist, however, didn’t think it was necessary. A group member shared a scientific paper showing the benefits of the procedure so others could pass on that data to their doctors.

Some people in a group may know sources of information that others find helpful. Some may have access to the latest research.

One member of the family reunion group told the others about a useful blog by a writer with a LMNA mutation in their family.

Telling diagnosis stories can help people explore the effects the disease has had on their lives.

For LMNA group members, the stories highlighted the variety of their experiences.

Groups shouldn’t forget to chat and get to know each other. Family reunions are also for sharing successes and bright spots in all aspects of life—as people, not just patients. Distant cousins and others with the same variant who meet through ConnectMyVariant can become good friends.