Endocrine issues are deeply personal to every one of us. They represent our masculinity, our femininity. They impact our weight, our height and how we look. As our boys with Duchenne grow and develop into adolescents, they and their parents are faced with these intensely personal and complex issues. The purpose of this meeting was to engage with experts to develop information related to these issues that parents and their sons might use with their physicians to encourage (or insist) upon a referral to an Endocrinologist.
Endocrine issues are significant in Duchenne and to date, there is very little information. Parents have expressed concern about small stature, delayed puberty, and bone fragility. Weight and chronic steroid use negatively impacts all of these concerns. Experts in Neurology, Endocrinology, Cardiology, Orthopedics, and Psychology were invited to participate. These specialists were separated into working groups with the goal of developing information sheets for families focused on each area, describing the concern, what monitoring and/or tests might be suggested or recommended, the frequency of those tests, and treatment options that might be considered.
Prior to this meeting, working groups had been established across the four areas:
They were instructed to develop a white paper (draft) for families, providing information and outlining options. This draft white paper would be shared with the group for debate and discussion and would be finalized during the meeting.
The format for this meeting included keynote speaker Rick Guidotti, an amazing speaker and professional photographer, who opened the meeting with the question, “What is beauty?” Rick spent his early career photographing supermodels. His life changed when he saw a young girl with Albinism and started thinking about the concept of beauty. Who is beautiful? And by whose standards? Through the lens of his camera, he began to redefine beauty, capturing individuals with rare diseases with the goal of changing medical textbooks with frightening photos of a ‘condition’ to photographs of individuals with a condition, capturing the soul of the person with the condition. Because Endocrine issues seem to predominate adolescence, we invited Rick to photograph some of our beautiful young men.
To keep our eyes on the ball, to understand what is important and relevant to young men with Duchenne, we invited four young men to participate on a panel. We invited each of them to comment on these issues and offer advice to the experts.
Quick hits on these areas include:
36 hours later, information sheets across the four areas are finalized and ready for final editing/formatting and signoff. We expect to have final sign-off in the next 60 days and then they will be ready for dissemination.
PPMD will share these information sheets the minute they are available.
Pat Furlong, Founding President, CEO
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