Mr. Michael McLaughlin - Blepharophimosis

December 2, 2011- Mr. Michael McLaughlin, Senior Director of Regional Development at the University of Notre Dame and family members address Professor Kasturi Haldar's BIOS60565 class (Photo: Wall, 2011)

Mike McLaughlin and members of his family visited with the CRND's class on Developing Health Networks in Rare and Neglected Diseases to teach students about Blepharophimosis and share their perspectives as a family with several members affected by this rare genetic condition. Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is inherited as an autosomal dominant pattern (50% chance of inheritance). It is characterized by a complex eyelid malformation: eyelids that are narrow horizontally (blepharophimosis), a skin fold (lower eyelid) on the sides of the nose (epicanthus inversus), and drooping of the upper eyelids (ptosis). Numerous corrective operations beginning in early childhood are required to attain proper vision and eyelid functionality.

Mr. and Mrs. McLaughlin, both outgoing speakers brought an ample measure of good humor, which was shared by all the family, to narrating their multi-generational history. Mrs. Patty McLaughlin (also UND staff), who does not have BPES, has played a significant role in researching the condition and she related her journey of discovery to class. Mr. McLaughlin shared his experiences growing up with BPES (inherited from his father) and the kinds of choices he made to overcome many social and medical challenges. The resilience of the McLaughlin family in undergoing many surgeries was a compelling feature of the story and provided students with a window into the kinds of resources - medical, financial, emotional, and spiritual - required to ameliorate a rare disease. Mr. McLaughlin's surgeries occurred later in life and he remarked on the considerable difference these operations made on the way people naturally responded to him. Current medical advances have enabled surgery to begin correcting features of BPES much earlier (often between the ages of 3-5). The timing of surgeries is, of course, critical to outcomes in children.

Throughout class, students joined in a relaxed Q&A with the very generous McLaughlin clan. As Mr. William Wall, class videographer summarized, "Mike and Patty are both gifted storytellers and gave the class an intimate and honest view of a rare disease's impact on a family." The visit of the McLaughlin family to CRND is deeply appreciated.

 

 

 

 

 

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