Rare and Orphan Diseases

Host: Shira Johnson, MD

Guest: Brian Durie, MD

Dr. Shira Johnson welcomes Dr. Brian Durie for a discussion about current diagnostic modalities and therapeutic approaches for multiple myeloma (MM), which have transformed its course into a chronic and often manageable illness.

Host: Mark Nolan Hill, MD

Guest: Joseph Muenzer, MD

Previously, patients could only receive palliative care for symptoms associated with Hunter syndrome, a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Now, a new enzyme therapy is making it possible to prevent Hunter syndrome manifestation, typically occurring as early as year two, which dramatically improves long-term quality of life. How quickly do patients show improvement with enzyme therapy? What are the most common side effects? Join host Dr. Mark Nolan Hill for an interesting conversation with Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading experts on Hunter syndrome.

Host: Mark Nolan Hill, MD

Guest: Joseph Muenzer, MD

Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Initial onset symptoms include inguinal hernias, recurrent otitis, and the common cold, frequently manifesting concurrently as part of a multi-system failure sometime after the first year of life. Because many of these symptoms are common in infants, physicians often do not suspect Hunter syndrome, yet treatment for the disease is much more effective when administered early in its progression. How can we minimize the delay typically associated with diagnosis of Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.

Host: Mark Nolan Hill, MD

Guest: Joseph Muenzer, MD

Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. What are the prinicipal symptoms that would lead a primary care physician to consider Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.

Host: Lauren Streicher, MD

Guest: Marla Mendelson, MD

Marfan Syndrome, an inherited connective tissue disorder, affects 1 in 10,000 to 1 in 20,000 individuals. Women with Marfan Syndrome have a wide range of abnormalities involving the lungs, skin, ocular, musculoskeletal and cardiovascular systems. Today we are joined by Dr. Marla A. Mendelson, an assistant professor of Medicine at Northwestern University’s Feinberg School of Medicine, and director of the Women’s Cardiology program of the Bluhm Cardiovascular Institute of Northwestern Memorial Hospital which has just opened a clinic devoted to the management of women with Marfan syndrome.

Host: Maurice Pickard, MD

Guest: Richard King

In his book “My Maggie,” Chicago sports anchor Rich King writes a powerful, complex, and memorable love story about his childhood sweetheart and wife of 32 years. Diagnosed with hearing loss at the age of four, Maggie wore cumbersome hearing aids and felt the humiliation of being "different." Slowly, an insidious disease later diagnosed as Usher Syndrome robbed her of vision. But she soldiered on, having fought three different cancers, changed careers in the middle of her life and fought to realize her dreams. Maggie King confronted this progressive disease with courage and dignity throughout her career in nursing and later as a strong advocate for the disabled.

Host: Maurice Pickard, MD

Guest: Richard King

In his book “My Maggie,” Chicago sports anchor Rich King writes a powerful, complex, and memorable love story about his childhood sweetheart and wife of 32 years. Diagnosed with hearing loss at the age of four, Maggie wore cumbersome hearing aids and felt the humiliation of being "different." Slowly, an insidious disease later diagnosed as Usher Syndrome robbed her of vision. But she soldiered on, having fought three different cancers, changed careers in the middle of her life and fought to realize her dreams. Maggie King confronted this progressive disease with courage and dignity throughout her career in nursing and later as a strong advocate for the disabled.

Host: Michael Greenberg, MD

Guest: Hugh Rienhoff, MD

Dr. Michael Greenberg speaks with Dr. Hugh Rienhoff about www.mydaughtersdna.org, a website he created to help children with rare or difficult-to-diagnose genetic diseases find proper diagnoses and help.

Host: Bruce Bloom, DDS, JD

Guest: David Teachey, MD

Dr. David Teachey, a practicing pediatric hematologist-oncologist, a world class laboratory and clinical researcher and an Instructor in the Department of Pediatrics, Division of Oncology, at the Children’s Hospital of Philadelphia discusses his new research repurposing pharmaceutical and botanical medicines for diseases like Lupus and ALPS.

Host: Bruce Bloom, DDS, JD

Guest: David Teachey, MD

Dr. David Teachey, a practicing pediatric hematologist-oncologist, a world-class laboratory and clinical researcher and an Instructor in the Department of Pediatrics, Division of Oncology, at the Children’s Hospital of Philadelphia discusses his research breakthrough in treating Autoimmune Lymphoproliferative Syndrome.