Unraveling Family Histories
Presented at Patient, Family and Friends Day
Fourth International Workshop on Alport Syndrome
April 15, 1999, in Salt Lake City
Presented at Patient, Family and Friends Day
Fourth International Workshop on Alport Syndrome
April 15, 1999, in Salt Lake City
When a new family is added to the Alport study, one of the first things the coordinator needs to do is gather as much information about family members as possible. Most frequently this is obtained through phone conversations; it may also include e-mail, FAX, and U.S. mail correspondence. For those who are participants in the study, you know we may inquire about spouses, siblings, children, grandchildren, grandparents, great grandparents—as far back family records or memories will allow. All of this may help to determine the pattern of inheritance, and give a clue concerning possible relationships to other families, and to uncover the elusive, longed-for mutation for a given family.
Maiden names and family history records may be the key to some family connections; cause of death, death certificates, even hearsay on illnesses or cause of death of great, great grandma may be helpful; medical records, biopsy reports, stated diagnoses related to Alport can be useful.
An important point to remember is the confidential nature of any information provided. This is, at times, a matter of considerable concern to some families or specific individuals in a family. Information about any specific participant or a total family is not available to others—insurance companies being the major concern of some participants—unless, in addition to a general consent form signed initially, we contact you personally and request an additional written permission.
Occasionally, individuals may share sensitive information which is not common family knowledge and they do not want it divulged to others. Sometimes there are family members who do not wish to participate or be contacted or involved in any way with the study. Sometimes there are individuals who are upset or offended because they have not been asked to contribute or participate in some way.
All of these things are considered and respected by the staff. For the most part, the cooperation and participation of families has been excellent and rewarding for our research.