Hear from the experts in our conversations on a very rare genetic disorder: Multiple Sulfatase Deficiency. We cover MSD diagnosis, new treatment options, and how to connect with the MSD community.

Experts in this episode include:

*Rachel Wyatt: Genetic Counselor at UT Health San Antonio.

*Lars Schlotawa, MD: Pediatrician and child neurologist based in Goettingen, Germany.

*Mauricio De Castro, MD: Physician, scientist, and Associate Director for the Air Force Medical Genetics Center.

*Amber Olsen: Executive Director and Founder of the United MSD Foundation, and mother to Willow, diagnosed with Multiple Sulfatase Deficiency.

Hear from the experts in our conversations on a degenerative nerve disease: Charcot Marie Tooth. We cover CMT diagnosis, new treatment options, and how to connect with the CMT community.

Experts in this episode include:

* Michael Shy, MD - Professor of Neurology at the University of Iowa.

* Shawna Feely, MS, LGC - Genetic Counselor with a specialty in neuro-genetics and CMT.

* Elizabeth Ouellette - CMT advocate, and mother of Yohan, who was diagnosed with CMT1A in 2003.

More resources and information for you: raredisease.com/cmt

Hear from the experts in our conversations on a chromosomal disorder: 22q Deletion Syndrome. We cover 22q Deletion Syndrome diagnosis, new treatment options, and how to connect with the 22q Deletion Syndrome community.

Experts in this episode include:

*Emily Palen, genetic counselor and coordinator of the 22q Developmental Specialty Clinic at Geisinger’s Autism and Developmental Medicine Institute (ADMI).

*Scott E. Hickey, MD, clinical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children's Hospital.

*Kisha Bonnell, mother of a child diagnosed with 22q Deletion Syndrome.

More resources and information for you: raredisease.com/22q

Hear from the experts in our conversations on a genetic neurodegenerative disorder: Huntington's Disease. We cover HD diagnosis, new treatment options, and how to connect with the HD community.

Experts in this episode include:

*Fallon Brewer, M.S., CGC - Lead genetic counselor at the University of Alabama at Birmingham.

*Hope Heller, LCSW-C - Clinical social worker and program coordinator for the MedStar Georgetown University Hospital Huntingtons Disease Care Education and Research Clinic.

*Dr. Victor Sung, MD - Associate Professor of Neurology at the University of Alabama at Birmingham, Director of UAB Huntington's Disease Clinic, and Co-Director of UASOM Medical Student Neuroscience Module.

*Tyler Orem - From the Team Hope Walk program at HDSA. Senior student in neuroscience at the University of Alabama at Birmingham.

More resources and information for you: raredisease.com/huntingtons

Hear from the experts in our conversations on a rare genetic disease: Ehlers-Danlos syndrome. We cover EDS diagnosis, new treatment options, and how to connect with the EDS community.

Experts in this episode include:

*Kelly Bontempo, a Genetic Counselor and Faculty Member at the Graduate Program in Genetic Counseling at Northwestern University.

*Jan Delariman a Senior Occupational Therapist at Lutheran General Hospital.

*Patricia Shimanek, PT, a physical therapist with expertise in EDS.

More resources and information for you: raredisease.com/eds

Hear from the experts in our conversations on a rare genetic disease: Lynch Syndrome. We cover Lynch Syndrome diagnosis, new treatment options, and how to connect with the Lynch Syndrome community.

Experts in this episode include:

*Heather Rocha, a Genetic Counselor at Geisinger Medical Center in Danville, Pennsylvania.

*Dr. Julie Woods, MD, a Medical Oncologist at Geisinger Medical Center in Danville, Pennsylvania.

*Dr. Julie Hergenrather, PhD, Psychologist at the Geisinger Health System in Danville, Pennsylvania.

More resources and information for you: raredisease.com/lynch

Hear from the experts in our conversations on a rare genetic disease: Neurofibromatosis. We cover Neurofibromatosis diagnosis, new treatment options, and how to connect with the Neurofibromatosis community.

Experts in this episode include:

*Robert J. Hopkin, MD, an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center, in the University of Cincinnati College of Medicine.

*Dr. Bruce Korf, MD, PhD, a medical geneticist, director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham.

*Emily Sites, LGC, a genetic counselor with a specialty focus in Neurofibromatosis, and coordinator of the Neurofibromatosis Clinic at at Nationwide Children's Hospital in Columbus, OH.

*Annette Bakker, PhD, President of the Children's Tumor Foundation and Board Member at NYBIO.

More resources and information for you: raredisease.com/nf

Hear from the experts in our conversations on a rare genetic disease: Trisomy 13.  We cover Trisomy 13 diagnosis, new treatment options, and how to connect with the Trisomy 13 community. 

Experts in this episode include: 

*Brenna Bentley, a genetic counseling student completing her masters at The University of Alabama at Birmingham.

*Dr. John C. Carey, MD, professor and Vice Chair of Academic Affairs, Department of Pediatrics, at the University of Utah.

*Erin Froehner, executive director for the Hope for Trisomy organization, and mother of a child afflicted with Trisomy 18.

More resources and information for you: raredisease.com/trisomy13

Hear from the experts in our conversations on a rare genetic disease: Klinefelter Syndrome.  We cover Klinefelter Syndrome diagnosis, new treatment options, and how to connect with the Klinefelter community. 

Experts in this episode include: 

*Brenna Bentley, a genetic counseling student completing her masters at The University of Alabama at Birmingham.

*Dr. Adrian Dobs, lead physician at the Johns Hopkins Clinical Research Network.

More resources and information for you: raredisease.com/ks

Hear from the experts in our conversations on a rare genetic disease: Fabry Disease.  We cover Fabry disease diagnosis, new treatment options, and how to connect with the Fabry community. 

Experts in this episode include: 

*Jessica Bucher, a board-certified genetic counselor and graduate of Northwestern University

*Dr. Jaime Barea, he is a clinical geneticist at the University of California-San Diego.

*Lut de Baere.  She is the President of the Fabry International Network and gave us a deeper look at their organization, which supports patients diagnosed with Fabry disease with events, resources, updated information and much more.

More resources and information for you: raredisease.com/fabry