As I received the job of case manager for Mrs. Trosack I began to visualize in my mind what all
needed to be accomplished before her and her husband’s appointment with me. I know I will need as
much information to properly inform my patients of any genetic anomalies which they may have. I
have noticed from the patient’s chart she is from Irish descent but the husband is from Polish descent.
The Irish history could be relevant for a Tay-Sachs diagnosis, but the husband’s history is not. There is a
rare possibility that they are one of the general populations that has just acquired this genetic problem.
I would like to gain additional history from the husband before we meet if at all possible. For now I will
contact Mrs. Trosack’s PCP, her OB, and the lab that completed the CVS.
Mrs. Trosack’s OB Dr. Zimmerly or his nurse, the laboratory that did the CVS, Mrs. Trosack’s PCP
or his nurse, the high-risk prenatal MD if one has been assigned and myself, Mrs. Trosack’s case
manager are all pertinent to ascertaining as much information to help with her care. My search for
information would be with Mrs. Trosack’s primary care physician. Talking with this doctor could shed
light on things that the patient may have overlooked or deemed inconsequential. Many patients talk
with one health care worker and say one thing and talk with another and you get one more piece of
information that could help with a diagnosis. Does the PCP know more of the patient’s linage or family
Mrs. Trosack’s OB could bring more information about the patient’s inability or difficulty in
having children. He may also know why if any reasons for the couple putting off children until now. Has
the patient completed any fertility treatments? Has the patient had any miscarriages? Has the patient
been through a transfusion for...