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Medical Students Learning About Rare Diseases from Parents

OCTOBER 02, 2017
James Radke
Harmony 4 Hope, the non-profit organization that uses music to help rare disease patients, is branching out into spoken word.

The organization announced their fall storytelling tour that will bring caregivers and patients with rare diseases to medical schools in the hope of educating medical students about the many challenges that rare disease patients face.

Rare disease patients and parent advocates will speak to students on Tuesday, October 3 at Northwestern University Feinberg School of Medicine and Friday, October 13 at Rush University Medical Center,

Joining the Storyteller Series will be Todd and Corin Chapman who will be talking about their 3-year-old son, Max, who was diagnosed with as Zellweger spectrum disorder [also known as peroxisomal biogenesis disorder (PBD)] at 14 months of age.

 Zellweger spectrum disorders often result in severe, life-threatening complications early during infancy. This degenerative disease affects multiple organs, and Todd and Corin will educate the medical students about how the disease has affected Max’s body, including his vision, hearing, liver, muscle and bone strength, and general physical development.

Also part of the storyteller series will be Adrienne Provost, mother of a child with epidermolysis bullosa. Epidermolysis bullosa patients have extremely delicate skin, often referred to as “butterfly skin,” because it becomes fragile – like the wings of a butterfly – and can fall apart at the touch. 

Sara Kennicott, a parent advocate for Batten disease, will also be part of the series. Sara lost her daughter to Batten disease earlier this year. 

Batten diseases are a group of lysosomal diseases in which substances called lipofuscins abnormally build up in the body’s tissues, including the brain, eye, muscle, and many other parts of the body.

Dr. Stephen Mack will be in the series to talk about his daughter Isabella, who lives with Joubert syndrome, a rare genetic disorder leading to abnormal brain development and characterized by decreased muscle tone, difficulties with coordination and intellectual disability.

The Storyteller Series should provide medical students with the personal stories they need to better recognize and understand some of these rare diseases.

The series is sponsored by Retrophin Pharmaceuticals.

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