Rare Disease Connection

Hear from the experts in our conversations on CHARGE Syndrome (CHD7). We cover CHARGE Syndrome diagnosis, new treatment options, and how to connect with the CHARGE Syndrome community.

Experts in this episode include:

*Meg Hefner, MS: Genetic counselor at Saint Louis University School of Medicine, and special advisor for the CHARGE Syndrome Foundation.

*Timothy Hartshorne, Ph.D.: Psychologist and chair of the CHARGE Syndrome foundation advisory board, and parent to a child with CHARGE syndrome.

*Donia Shirley-Douglas: Parent Liaison.

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

Hear from the experts in our conversations on a rare genetic disorder: Neurofibromatosis type 2 (NF2). We cover NF2 diagnosis, new treatment options, and how to connect with the NF2 community.

Experts in this episode include:

*Oliver Adunka, MD, FACS: Director of Otology, Neurotology and Cranial Base Surgery, Department of Otolaryngology, Head and Neck Surgery, at The Ohio State University Wexner Medical Center.

*Lauren Hanrahan: Ambassador for NF2 Bio Solutions, and recently diagnosed with NF2.

* Nicole Henwood, MD: Physician, President and CEO of NF2 Bio Solutions, and parent of a child with NF2.

More resources and information for you: https://raredisease.com/nf2

Hear from the experts in our conversations on a complex genetic condition: Prader-Willi Syndrome (PWS). We cover PWS diagnosis, new treatment options, and how to connect with the PWS community.

Experts in this episode include:

*Bri Dingmann, MS, LCGC: Genetic counselor at Seattle Children’s Hospital

*Virginia E. Kimonis, MD: Clinical geneticist at UC Irvine School of Medicine.

*Amanda Atkins: Licensed marriage and family therapist. Her eldest son, Asher, has Prader-Willi Syndrome.

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

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

Experts in this episode include:

*Judith Fridovich-Keil PhD: Principal investigator in the Fridovich-Keil lab at Emory University.

*Anne Kozek, MS, RD, LDN: Registered dietitian at the Ann & Robert H. Lurie Children's Hospital of Chicago.

* Brittany Cudzilo: Outreach Coordinator for the Galactosemia Foundation, and mother of three daughters, the youngest of which has Classic Galactosemia.

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

Hear from the experts in our conversations on a rare neuro-genetic disorder: Angelman Syndrome (AS). We cover AS diagnosis, new treatment options, and how to connect with the AS community.

Experts in this episode include:

* Lynne Bird, M.D. - Clinical geneticist and professor at UCSD School of Medicine.

* Regina Uribe - Parent advocate of Angelman Syndrome. Her daughter, Natalia (4.5 years old), was diagnosed with Angelman Syndrome when she was 3.

* Paula Evans - Parent advocate and Chairperson of FAST (Foundation for Angelman Syndrome Therapeutics).

More resources and information for you: raredisease.com/angelman-syndrome

Hear from the experts in our conversations on an extremely rare genetic disorder: Hermansky-Pudlak Syndrome. We cover HPS diagnosis, new HPS treatment options, and how to connect with the HPS community.

Experts in this episode include:

*Lauren Giannetti Sferrazza MS, LGC - Certified and Licensed Genetic Counselor at Myriad Genetics.

*Donna Appell, R.N. - Executive Director and Founder of the Hermansky-Pudlak Syndrome Network.

*Heather Kirkwood - COO and Chief Communications Officer at the Hermansky-Pudlak Syndrome Network.

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

Hear from the experts in our conversations on a rare genetic disorder: TANGO2-related metabolic encephalopathy and arrhythmias. We cover TANGO2 Disease diagnosis, new treatment options, and how to connect with the TANGO2 Disease community.

Experts in this episode include:

*Seema Lalani, MD - Clinical geneticist at Texas Children's Hospital, and professor at Baylor College of Medicine.

*Jayme Gilmore, DPT - Pediatric Physical Therapist.

*Lindsey Messerschmidt, CCC-SLP - Licensed Speech Pathologist, and mom of three children born with TANGO2.

More resources and information for you: raredisease.com/tango2

Hear from the experts in our conversations on a type of fatty acid oxidation disorder: VLCAD. We cover VLCAD diagnosis, new treatment options, and how to connect with the VLCAD community.

Experts in this episode include:

*Erika Beckman, MS: Genetic Counselor in Seattle, WA.

*J. Daniel Sharer, PhD: Director of the Biochemical Genetics Laboratory at UAB.

*Deb Lee Gould, MEd: Director of the FOD Family Support Group.

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

Hear from the experts in our conversations on a genetic disorder: Duchenne Muscular Dystrophy. We cover Duchenne diagnosis, new treatment options, and how to connect with the Duchenne community.

Experts in this episode include:

*Ann Martin, MS, CGC - Certified genetic counselor with Parent Project Muscular Dystrophy, and Director of The Duchenne Registry.

*Edward C. Smith, MD - Pediatric Neurologist at Duke University Hospital.

*Debra Miller - CEO and founder of CureDuchenne.

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

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

Experts in this episode include:

*Rebecca Sheedy - Genetic Counselor at Autism and Developmental Medicine Institute, Geisinger.

*Elizabeth M. Berry-Kravis, MD, PhD - Pediatric neurologist in Chicago, Illinois.

*Peter Todd, MD, PhD - Neurologist, and researcher at the University of Michigan Medical School.

*Gregg Harper - Former Mississippi State Representative and father of Livingston, his adult son who has Fragile X syndrome.

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