Gaucher Voices

From Isolation to Impact: Advocacy in Action

Real experiences. Real voices. Real advocacy. This RareDisease Day, discover how patients and caregivers turn lived experience into action. In the world of rare diseases, a diagnosis is often like asolitary journey. But with the IGA, it's a family journey. And from isolation,we go into a global movement. This is why in this podcast we are exploring avery interesting subject of advocacy in action. And we are not just talkingabout policies, about medicines, we are talking about moments that change ourlives. We have amazing leaders from the Gaucher community who have turned theirpersonal experience into a catalyst for change. In this podcast, you will hear from: Vesna Aleksovska, Gaucher patient, moderating theconversation, Republic of North Macedonia, IGA Developmental Programme Sintia Tamele is a mother of two, and her firstbornhas Down syndrome. She is a biologist, public health professional, Mozambicanactivist, and founder of AMODORA (Associação Moçambicana de DoençasRaras), where she leads advocacy, inclusion, and support initiatives for peopleliving with rare diseases and their families. Aviva Rosenberg is a health care attorney based inPennsylvania. She has practiced health law throughout the United States andtaught as an adjunct professor at several universities. Aviva was diagnosed with Gaucher disease at age 27, following 20 years ofsymptoms with no answers. Her son, Eli, also has Type I Gaucher disease.Aviva’s passion is educating about genetic diseases and screenings and talkingabout her personal journey with Gaucher disease, including the need to shortenpatients’ diagnostic results. Maurice Moure is a German Type 3 Gaucher patient,father of a 3-month-old daughter and second chairman of the German Gaucherpatient’s organisation. Kate Theochari, Gaucher patient, mother, and nowgrandmother, has been advocating since 1997. She endured a hard 12-year journeyto diagnosis and fought for reimbursement for Lysosomal Diseases in Greece.Founder of the Greek Lysosomal Diseases Association "Solidarity”, built astrong Lysosomal empowered patient community in. Greece. Has been in theInternational Gaucher Alliance since 1999 Lemnos and serves on the boards ofRare Diseases Greece and the Greek Patient Umbrella Organization. Kate saysthat today, Patient organisations prioritize evidence-based advocacy, policyinfluence, and structured, professional approaches — a significant evolutionfrom the past.

Vivir con la enfermedad de Gaucher en América Latina Central

El podcast “Viviendo con la Enfermedad de Gaucher en América Latina Central” fue realizado gracias a María Alejandra Tornero, líder de Gaucher en IGA. Dr. Gustavo Kantor inició la reunión presentando el objetivo de discutir el manejo de la enfermedad de Gaucher en diferentes países. * Ricardo, de 78 años, compartió su experiencia de diagnóstico hace 7 años, descubierto durante exámenes pre-quirúrgicos por plaquetopenia. Comenzó el tratamiento en 2018 y logró mejorar sus niveles de plaquetas. * Rigoberto Maldonado, de 47 años, de Guatemala, fue diagnosticado a los 13 años después de presentar sangrado en las encías y moretones. Aunque recibió diagnóstico rápido, enfrentó dificultades para acceder al tratamiento por su alto costo. * Marta, madre de Candy de Guatemala, relató el diagnóstico de su hija a los 6 meses, destacando las dificultades en el sistema público y cómo lograron acceder al tratamiento mediante un amparo legal. * Agustín, de 26 años de Argentina, lleva 20 años con tratamiento y recibe infusiones domiciliarias cada 15 días, aunque menciona la constante lucha con el seguro social para mantener la medicación. * Alexandra GAllese, de Perú, explicó el sistema de cobertura en su país, donde el acceso al tratamiento se da a través del seguro social o el ministerio de salud, aunque con procesos administrativos que pueden demorar hasta un año. * Emilse Peña, de Argentina, habló sobre su experiencia con el diagnóstico y el tratamiento. * Elsa, de Guatemala, compartió la historia de su hija Jacqueline, destacando las dificultades iniciales para obtener el diagnóstico y tratamiento, pero finalmente logrando acceder a la atención necesaria. * Ezequiel Torrilas y erónica de Argentina hablaron sobre su historian de diagnóstico y tratamiento.

Living with Gaucher Disease in Africa

In this episode, Prof. Christian Hendriksz talks about the challenges and progress made in Africa regarding diagnosis, management and treatment, together with Emma (GD patient from Kenya), Laurence (GD parent from Rwanda) and  Roselyn Odero (Gauhcer Leader at IGA and a patient advocate from Kenya).

Pregnancy and Gaucher disease - what you need to consider

In this episode, Prof. Shoshana Revel-Vilk of the Shaare Zedek Medical Center in Israel, speaks with three women with Types 1 and 3 Gaucher disease about their experiences of pregnancy and childbirth, and the issues they needed to consider before deciding to get pregnant. If you have any questions, Prof. Revel-Vilk is happy to try to answer them You can contact her at srevelvilk@gmail[dot]com

Switching from ERT to SRT

In this episode, three patients in different parts of the world speak with Prof. Derralynn Hughes about their experience in switching from Enzyme Replacement Therapy to Substrate Reduction Therapy. This switch requires careful monitoring and is not always successful as you will hear in this episode.