Tapping expertise from Mass General for Children (MGfC), the Myhre Syndrome Foundation (MSF) launched its inaugural conference on July 10 - 11, 2021. The two-day virtual meeting included a Family Conference followed by the Scientific Symposium. Together, they focused on patient education efforts, outlining the rare disease’s effects on a person’s body and recommendations on symptom management, and latest clinical findings.
Myhre syndrome is a rare disease, defined by the defined by Food and Drug Administration as a condition that affects less than 20,000 people in the United States. The exact number of people with Myhre syndrome in the US is not known, but a rough estimate is about 250 individuals, 42 of whom have been evaluated at MGfC’s Myhre Syndrome Clinic. The genetic disorder is characterized by short stature, varying degrees of intellectual, social and learning disability and problems with the heart, airways or skin. People with Myhre syndrome also have characteristic facial features, such as small eyes, prominent nose, small mouth or prominent chin. But, not all people have all of the features and there is a wide spectrum of involvement.
The meeting included individuals with Myhre syndrome and their families, and medical professionals spanning 19 countries. Angela Lin, MD, co-director of the MGH Myhre Syndrome Clinic and co-director of the Turner Syndrome Program, presented the keynote coaching session, “Your Child (or You) Have Myhre Syndrome - Now What? Learning About This Rare Syndrome and Creating a Personal Care Team” and provided a major research review for attendees.
Presentations from Mass General experts encompassed the whole Myhre patient’s unique needs, from social, mental and physical health. As one of the only specialty clinics in the world, MGH’s Myhre Syndrome Clinic, led by Lin and co-director Mark Lindsay, MD, of the Pediatric Cardiology Program, is home to the leading clinical and research advances.
Experts from various departments at MGfC also presented on the patient care and research underway. Featured faculty speakers included T. Bernard Kinane, MD, chief of Pediatric Pulmonary Medicine and director of the Pediatric Sleep Program and Pediatric Cardiopulmonary Exercise Laboratory, Sylvia Fogel, MD, a psychiatrist at the Lurie Center for Autism, Jessica Riggs Garton, PT, DPT, OCS, CLT and Brigette Jason, PT, DPT from the Physical Therapy Department, and Michael Cohen, MD, director of the Multidisciplinary Pediatric Hearing Loss Clinic at Mass Eye and Ear. In her talks, Dr. Lin thanked the entire Myhre Syndrome Program staff, including the new Clinical Research Assistant, Eleanor Scimone, who did not present at the conference but are vital to the multispecialty team.
The virtual conference concluded with a renewed sense of partnership between patients and providers, enhanced international outreach, updating clinical guidelines, and the hope of another conference.