Rare Disease Day 2026:
Together, we stand beside every rare disease journey.

Hang in there, the researchers are trying their best to find the treatment if not the cure!  We all care!

보이지 않는 불확실함 속에서도 환자를 위해 버티고 싸워온 가족분들, 그리고 정답이 없는 현장에서 매 순간 최선의 판단을 고민해 온 의료진 여러분께 진심으로 존경을 전합니다. 느리고 어렵게 느껴지는 과정일지라도, 그 축적된 시간과 많은 노력들이 분명 의미 있는 변화를 만들어가고 있습니다. 저희도 매 순간 최선을 다하도록 하겠습니다.

Rare diseases are like pearls in the ocean—you must dive deep to find them. The path is difficult and exhausting, but thanks to science and research, we are making this odyssey easier to endure, achieving earlier diagnoses and offering support and accompaniment.

Derrière chaque maladie rare se cache une histoire de courage. Aux patients, aux familles et aux chercheurs : votre force inspire et renforce l’espoir d’un avenir meilleur pour tous.

You’re stronger than you think. We’ll work tirelessly to find answers. (ง •̀_•́)ง We’ve got you!!

Defying the Odds, Defining Hope!

희귀질환 환자 및 가족 분들, 더욱 빠르게 진단 및 치료를 받으실 수 있도록 노력하겠습니다. 의료진 분들, 부족한 일손에도 환자들을 위해 고군분투 해주셔서 감사합니다. 존경합니다.

환자들에게 새로운 희망의 길을 만들어주시는 선생님들, 고맙습니다. 쉽지 않은 여정이지만 쓰리빌리언이 든든한 파트너로 옆을 지키겠습니다.

也许前路依旧充满未知，但请记住：世界上有无数颗心，正和你一起向前。今天不只是纪念，更是提醒: 你从来都不是一个人。

희귀하다는 것은 숫자가 적다는 의미일 뿐, 당신의 아픔이 작다는 뜻은 결코 아닙니다.

진단을 받기까지의 긴 시간, 이해받지 못하는 순간들, 경제적/정서적 부담 속에서도 여전히 하루를 살아내고 있는 여러분은 이미 충분히 강한 사람들입니다.

저희는 항상 기억하겠습니다: 당신의 용기를, 가족의 헌신을, 의료진의 노력을, 그리고 포기하지 않는 희망을.

희귀질환은 개인의 문제가 아니라 저희 모두가 함께 고민하고 앞으로 함께 해결해야 할 사회의 과제입니다.

Los pacientes de enfermedades raras han sido un grupo poblacional relegado por muchas décadas. Hoy tienen.uncara y visibilizacion por el esfuerzo de colectivos y asociaciones que se han encargado de hacer evidente la necesidad de diagostco, tratamiento y seguimiento de este grupo poblacional

I am Svyatova Gulnara, a geneticist and professor of medicine. For 43 years of my professional career, I have dedicated myself to helping families have healthy children by preventing disabling hereditary diseases in Kazakhstan.Orphan patients are an indicator for a healthcare system. If the system can help the most complex children, means it can help everyone. The most  importal step is making an accurate genetic diagnosis, which ends the Diagnostic Odyssey. It opens access to correct treatment and rehabilitation, enables communication with other families and international foundations, and allows for prenatal diagnostics.Unfortunately, genomic diagnostics for orphan diseases are not performed in Kazakhstan. Therefore, doctors and our patients are very happy that we entrusted this diagnostics to the 3-billion Center for Genomic Diagnostics in South Korea. Thank you to all the staff at 3-billion for your professional work! I would like to especially note the high accuracy and timeliness of the genomic research conducted, as well as the regular promt consultations and educational support. Your precise diagnosis is the first and most critical step on the path not only to treatment and rehabilitation but also to hope and restored faith in humanity for hundreds of Kazakh families with orphan patients.On «Rare Disease Day», I want to thank the people behind their incredibly complex diagnosis and treatment: doctors, lab technicians, molecular geneticists, rehabilitation specialists. Without your professionalism and dedication to your work, we could not help our patients.My special congratulations - to the parents of orphan disease patients. We understand perfectly the heavy burden on your shoulders – the feeling of helplessness from not being able to help your children, and the endless visits to doctors, tests, and examinations. I want to tell you: never despair, do not lose heart. The most important thing is to know that you are not alone in this world.Believe me, somewhere right now, in a distant country, in an ultra-modern, well-equipped laboratory at a major medical center, a whole team of super-talented scientists is working on diagnosing the disease and inventing a medicine that will help your child and other children. Or perhaps it has already been invented and is undergoing clinical trials, which you don't yet know about because a genetic diagnosis has not yet been made for you.To the thousands of families who have crossed the threshold of my office with hope in their eyes and fear in their hearts.To the mothers who cried upon hearing the diagnosis, only to become the strongest women in the world. To the fathers who fell silent in the face of helplessness, only to later move mountains for their children.To the children with special needs who taught me to see the world with different eyes—brighter, more honest, more real.To all who have entrusted me with what is most precious—their dreams of healthy children, their fears, and their hopes.Remember this: in medicine, "rare" does not mean "hopeless." Today, children with diagnoses considered fatal just 20 years ago are growing, learning, and bringing joy to their parents.Orphan diseases are not a sentence but a challenge—one we can and must confront. Over my 43 years of practice, I have witnessed the evolution in our approach to rare diseases: from complete helplessness to hope and real opportunities to help. The most important thing is not to give up. You are not alone; we will overcome this together. This is our shared journey to victory, and we will walk this path side by side.

As a clinician working with low-prevalence monogenic diseases, I have seen firsthand how meaningful reaching a diagnosis can be. My experience using 3billion has supported my diagnostic work through reliable molecular interpretation, helping patients and their families gain clarity, reassurance, and real opportunities to improve quality of life.

모두가 행복했으면 좋겠습니다. 그리고 모두가 행복해질거라 믿습니다. 각자의 자리에서 최선을 다해서 노력하면 언젠가 그 날이 오리라 생각합니다. 힘내주셔서 감사합니다.

The path to discovering an accurate diagnosis in our patients is never easy. It can take weeks, months, years or even decades. It is very difficult to see the journey and the stress that hundreds of families go through for an answer. It is very difficult to understand the pain and frustration that many people suffer day by day when they see their loved ones without a clear diagnosis and that is why the work of geneticists, laboratory technicians, cytogeneticists, bioinformatics, administrative and all the scientific team around must focus on trying to provide the highest possible quality of life, from the time the door of the office is opened until the samples arrive at the laboratory for analysis, but above all take the time to listen to them. Together let's celebrate on this day that union between colleagues and our patients so fundamental for the support and knowledge about the origin of all these rare and ultra rare conditions that, without a doubt, in a future that we approach year after year, will help us allow not only an early diagnosis but also a treatment, much more personalized medical follow-up and the cure of many of them.

Cuando algo es raro, la empatía debe ser común.

Les maladies rares ne sont pas une fatalité. En participant activement à leur diagnostic vous limitez les errances cliniques des patients et vous participer à  la promotion de l'innovation clinique et thérapeutique  personnalisées

In a world of billions, you may be 'one in a million,' but you are never alone. Your rarity is your strength, and your courage is our inspiration.

Life is beautiful please save it by understanding the genetic spectrum of your loved one's

함께라면 외롭지 않습니다. 당신의 내일을 우리가 함께 응원합니다.

You are not alone! Here we are as clinicians and scientists, trying to get closer to a quicker diagnosis and proper treatment. Thanks to the patients for letting us learn about your experiences and thanks to all staff involved in attending those patients with rare diseases.

You're just amazing just the way you are❤️

환자와 가족, 그리고 의료 현장에서 최선을 다하는 분들의 하루하루를 응원합니다!

On Rare Disease Day, I want to express my deep respect for patients and families living with rare conditions, and for the healthcare professionals who walk this journey with them. Every diagnosis represents not only a challenge, but also resilience, courage, and hope. Progress in rare diseases is built step by step—through listening, collaboration, and perseverance. Together, we continue to move rare disease care forward.

Ser "raro" es solo ser único. En este rompecabezas del mundo, cada pieza distinta es vital. Tu lucha nos une a todos, porque lo extraordinario es parte de nuestra esencia común. #DíaEnfermedadesRaras

On Rare Disease Day, we unite in strength, resilience, and hope. To every individual living with a rare disease: your courage in the face of uncertainty inspires far more people than you may ever realize. To families and caregivers: your love and unwavering support are powerful forces that make an extraordinary impact every single day. And to fellow healthcare professionals: your dedication, compassion, and commitment to listening, learning, and advocating bring light to complex journeys.While each rare disease may affect only a few, together this community is millions-strong. Progress is advancing, awareness is growing, and hope remains real. You are not alone—today and every day, we stand with you.

Aunque el camino sea largo y difícil, tenemos nuevas maneras de llegar al diagnóstico y asesoramiento correctos. No dejen de luchar y de busEl diagnóstico es el principio. Sin el, solo estaremos andando en círculos.Necesitamos una guía, un objetivo claro con metas y loUna enfermedad rara puede representar un gran desafío para las personas que la padecen, así como para sus familiares. Sin embargo, la lucha constante para su reconocimiento, estudio y el desarrollo de nuevas terapéuticas está dando frutos poco a poco, cambiando la vida de miles de personas. En este mes de las enfermedades raras sigamos luchando juntos para promover su difusión en los medios de comunicación, concientizando así al mundo.s estudios moleculares junto al asesoramiento de su médico genetista son el medio. 3Billon ha hecho posible que más personas puedan tener acceso a estas herramientas por medio de su convenio con la Fundación Teletón México.car la paz que necesitan y que solo un diagnóstico correcto puede ofrecerles. Las enfermedades raras no son tan raras si sabes buscarlas

No disease is rare once it happens to you.

As physicians, we learn resilience every day from our patients living with rare diseases.Your courage drives science forward and reminds us A las personas que viven con una enfermedad rara: no están solos.Eres my valioso, sin importar el diagnóstico. Recuerda que aún en los momentos mas difíciles tu vida es valiosa y siempre habremos muchas personas dispuestas a ayudar.Aunque a veces parece que no hay esperanza, recuerda que eres mas fuerte de lo que imaginas. Gracias por no rendirte y seguir adelante.why medicine exists.

Before the introduction of molecular diagnostics services by 3billion.Inc, the Pakhtun population in northwestern Pakistan was one of the most underserved ethnic groups for rare genetic disorders. Through a generous collaboration with 3billion.Inc, nearly three hundred patients with rare neurogenetic, ophthalmogenetic, musculoskeletal, and dermatogenetic diseases have now been successfully diagnosed. This represents a significant contribution by 3billion.Inc to humanity and medical science. By enabling accurate molecular diagnosis, this work helps reduce the future disease burden and paves the way for premarital and prenatal testing.

More collaboration and near cooperation between deparments which challenge rare diseases will bring more good progression in the treatment of the diseases.

3billion, will continue to be a reliable partner of rare disease diagnosis, to strengthen your dedication and commitment to the cause of saving those who are going through diagnostic journey.

Let's reach out and support people with rare diseases so that they can look ahead and move forward into a brighter future!

Rare does not mean alone — a journey of patient and physician, using advances in genetics and medicine to turn knowledge into hope and support every step.

A ti, decirte que tu resiliencia es el motor que nos da la energía y la esperanza para seguir escribiendo tu historia. En el día de las enfermedades raras, celebramos tu valentía y recordamos que nadie es invisible cuando nos mantenemos unidos.

Rare diseases also matter because they affect people who have families, dreams, and a life that deserves to be lived with dignity.

Hoy reconocemos la fortaleza de cada persona que vive con una enfermedad rara y de sus familias, que enfrentan desafíos médicos, emocionales y sociales con una resiliencia admirable.

I invite to all my collegues, the health workers, to recognize that they can not identify the diagnosis in all their patients. It is normal in rare disease, and it is the first step to reduce the time to get a diagnosis... Every health workers can recieve help from other members of the health team... remember you are not alone, and working together in rare diseases is the best option foy our patients.

De repente, como padres de un pequeño con un diagnóstico, nos encontramos en un abismo. En un bucle del que parece imposible salir. Hay miles de preguntas, pero no hay respuestas.Hay una familia que apoya, pero a veces no entiende. Hay médicos que no van más allá. Pero también existe ese médico que cree que se puede hacer más, que decide profundizar, indagar, buscar con el único fin de llegar a una respuesta certera.Y cuando esa respuesta llega, a veces no lo es del todo, porque se trata de algo raro, poco frecuente, desconocido. Y justo ahí, en la rareza de lo que no se entiende, encontramos el nombre de lo que somos.Ese nombre llega gracias a una pelea sin fin, a una familia que sostiene, incluso cuando duda, y a un médico que supo que se podía hacer más para llegar al diagnóstico.Por eso, de padre a padre: no te canses. Lucha. Aférrate. Ten fe, incluso cuando ya no sepas de dónde sacarla.Como familia, apoya. Solo apoya de manera íntegra, sin juzgar. Haz saber que estás ahí.Y acerca de los médicos podría hablar de buenos y malos, pero hoy elijo hablar de los que buscan el origen, de los que no se conforman. Nosotros tuvimos la fortuna de encontrar a uno de ellos, y gracias a esa insistencia hoy conocemos el diagnóstico de nuestra hija. Viviremos eternamente agradecidos por ello.Porque todos los pacientes merecen que alguien quiera llegar al origen de lo que sucede.Y recuerda NADIE está exento a lo raro, y no es tan raro cuando es a quien amas con todo lo que eres.

In this special day I am sending my warmest regards from the South of Chile to the whole Community involved in Rare Diseases, including patients, families, and health care professionals. A special metion to those People Living with Undiagnosed Diseases (PLWUD) who we still have a debt with in finding their diagnose. Let’s work Stronger Together!

To everyone living with a rare disease: you are seen, you matter, and your fight is real. Every diagnosis is more than science—it’s hope, relief, and a path forward.

Llegar al diagnóstico

Las enfermedades raras ya no es un dilema, en los momentos actuales ya hay forma de diagnosticarla y muchas ya tienen solución, es importante la ayuda del genetista clínico para resolver las dudas y buscar la mejor forma de arribar un diagnóstico

Ser los médicos que hacen visible lo invisible, lo imposible, posible y brinda una esperanza mas alla del diagnóstico, eso realizamos junto a 3Billion y la Genómica avanzada. ¡Todos somos raros!

Las enfermedades raras son mas fáciles de diagnosticar gracias a 3 billion.

Rare diseases are low in prevalence but high in impact. Behind every diagnosis, families face uncertainty, delays, and emotional strain. Awareness means support, empathy, research, and hope.

In the world of rare disease, a diagnosis is the bridge between uncertainty and empowerment. Using 3billion has shown me that when we combine cutting-edge genetics with clinical compassion, we don’t just find variants—we find HOPE AND PEACE. To my colleagues: keep pushing. To the families: keep believing. We are proving every day that diagnosis is possible, and together, we are changing the world, one genome at a time.

On Rare Disease Day, let’s remember our responsibility to recognize them. As physicians, early recognition can change the life of the patients with rare diseases.

"Alone we are rare, together we are strong."

En un mundo globalizado y complejo, veo un camino de luz importante que nos conduce con mucha claridad, hacia la comprensión de las enfermedades raras y, por ende su aceptación, esto ha inducido a la investigación de las mismas y la búsqueda incesante de soluciones .  Confiamos en la guía del Espíritu Santo de Nuestro Señor Jesús, para que con pasos firmes, se logre finalmente determinar los tratamientos adecuados., que permita a los seres humanos, nacer, crecer y desarrollarse con total bienestar; instó al mundo, no estigmatizar a las personas que padecen una enfermedad rara, y y aceptar las diferencias que conducen a un a una convivencia totalmente en paz.