Biblioteca de KrabbeConnect
¡Una biblioteca de recursos a su alcance!
Esta biblioteca se estableció para informar a los pacientes, sus cuidadores y otras personas sobre la investigaciónes realizadas sobre la enfermedad de Krabbe. La investigación científica mejora las herramientas del diagnóstico y avanza los tratamientos, sin embargo, los artículos publicados a menudo resultan en barreras al acceso y dialectos médicos. La biblioteca, que actualmente se encuentra en las etapas iniciales, aliviará este obstáculo al brindar acceso a artículos publicados, transformados amablemente a un contexto ententible para el paciente por KrabbeConnect, para garantizar que quienes viven con la enfermedad de Krabbe estén conectados a la investigación científica.
Revistas Médicas
Kofler J, Beltran-Quintero ML, Rugari A, et al. Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15-Year-Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation. Front Mol… CONTINUE
Page KM, Ream MA, Rangarajan HG, et al. Benefits of Newborn Screening and Hematopoietic Cell Transplant in Infantile Krabbe Disease [published online ahead of print, 2022 Jan 18]. Blood Adv…. CONTINUE
kIsabel C. Yoon, Nicholas A. Bascou, Michele D. Poe, Paul Szabolcs, Maria L. Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.Blood 2021; 137 (13): 1719–1730 Click… CONTINUE
Bradbury AM, Bagel JH, Nyugen D,et al. Krabbe disease successfully treated via monotherapy of intrathecal gene therapy. J Clin Invest. 2020. Click here to view publication Background Although effective therapies… CONTINUE
Vander Lugt et al, Reduced-intensity single-unit unrelated cord blood transplant with optional immune boost for nonmalignant disorders. Blood Advances 2020; 4 (13): 3041-3052 Click here to view publication Background Historically,… CONTINUE
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM,… CONTINUE
Pannuzzo, G, Graziano, ACE, Avola, R, Drago, F, Cardile, V. Screening for Krabbe disease: The first 2 years’ experience. Acta Neurol Scand . 2019; 00: 1– 7. Click here to… CONTINUE
Nicholas Bascou, Anthony DeRenzo, Michele D. Poe and Maria L. Escolar Bascou et al. Orphanet Journal of Rare Diseases (2018) 13:126 Click here to view publication Background Natural history studies… CONTINUE
Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols and Maria L. Escolar Orphanet Journal of Rare Diseases 2019 14:46 Click here to view publication Background Krabbe disease is a rare neurological disorder caused by… CONTINUE
Matthew D. Wright, Michele D. Poe, Anthony DeRenzo, Shilpa Haldal, Maria L. Escolar. Developmental outcomes of cord blood transplantation for Krabbe disease; a 15-year study Neurology Aug 2017, 10.1212/WNL.0000000000004418; DOI:10.1212/WNL.0000000000004418…. CONTINUE
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Videos
How did this happen? How did my child inherit Krabbe disease?
You’re not alone in asking this question. This is one of the most common questions asked when one learns that their child or loved one has been diagnosed with Krabbe disease. To learn more about how an individual inherits Krabbe disease, follow the link to a short video about autosomal recessive inheritance.
A 3-minute video with Krabbe disease expert, Dr. Joanne Kurtzberg, and 4 amazing transplanted Krabbe disease patients. We’re so thankful for transplant to help patients with this rare neurological disease live a better life. Yet, it’s important we share this video as transplanted patients need additional therapies to ensure they can continue living their best life.
Dragon and Lana, parents of Nikola, sit down with KrabbeConnect, to share their Krabbe disease journey. Krabbe disease is a rare neurological disease that results from the loss of the protective covering (myelin sheath) surrounding nerve cells. Dragon and Lana, residents of Virginia, share their story with the hopes of further educating the medical community and others about the need for nationwide newborn screening to allow Krabbe disease patients to live their best life. KrabbeConnect extends their deepest gratitude to the Grujicic and Studio Center for this educational video.
Please join us live on October 10th, 2020 for our, “A Million Dreams,” gala as KrabbeConnect highlights patient stories, embraces the generosity of our corporate sponsors, pays tribute to those patients diagnosed with Krabbe disease, and fundraises to the max to reach a day in which each patient can live a life free of Krabbe disease. As we gather safely from our homes, we want our community to know we are working harder than ever to unify work to #curekrabbe disease. KrabbeConnect cannot make this happen alone. We need the Krabbe disease experts, clinicians, researchers, family warriors, friends of the foundation, and our very important corporate sponsors to help change the lives of those born with this devastating disease. We guarantee you will leave this event feeling inspired, altruistic, and eager to follow our journey to success–A CURE!!
“Together” is a song written by board member, Dawn Laney, and performed by Marc Gunn. It originally aired on October 10, 2020 during the “A Million Dreams Gala.”
Mapas de Recursos y Mapas del Proceso del Paciente
El mapa de las etapas que encuentra del paciente con la enfermedad de Krabbe funciona simplificando las dos vías de la enfermedad de Krabbe: la sintomática y la presintomática. La vía sintomática se relaciona con pacientes que reciben el diagnóstico de la enfermedad de Krabbe porque presentan síntomas clínicos como reflujo ácido severo, rigidez muscular, convulsiones, pérdida de hitos de desarollo, debilidad de las extremidades inferiores y más. La vía presintomática se refiere a los pacientes identificados mediante pruebas de detección del recién nacido o con antecedentes familiares de enfermedad de Krabbe. Ambas vías proporcionan un análisis sistemático de los pasos y las opciones para el tratamiento, el seguimiento y la atención de apoyo. El Mapa de Recursos de Apoyo para la Atención al Paciente funciona para proporcionarles a los pacientes, sus cuidadores y la comunidad médica una idea de lo que está disponible para ayudarlos a lo largo de su viaje con la enfermedad de Krabbe. Estos recursos están destinados a brindarles a nuestras familias recién diagnosticadas y a quienes trabajan en la comunidad médica la capacidad de comprender sus opciones de tratamiento y navegar rápidamente por los recursos de apoyo en una pequeña cantidad de tiempo.
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