¿Puedes imaginarte si tuvieras que vivir la mayoría del tiempo dentro de cuatro paredes porque los rayos ultravioleta del sol te pueden matar?  Pues, esa es la realidad que me ha tocado vivir a mí y a otros con mi condición alrededor del mundo, y en especial en nuestros países Latinoamericanos.
 
Me gustaría compartir con ustedes un poco sobre la historia de mi vida.  Mi nombre es Fátima Pérez, y soy nativa de la República Dominicana.  A los seis meses de nacida, fui diagnosticada con Xerodermia Pigmentosa, (XP), una rara enfermedad genética y hereditaria que afecta la piel causada por un defecto en la habilidad del cuerpo para reparar las células del ADN dañadas por la radiación ultravioleta y algunas luces artificiales.
 
Debido al desconocimiento sobre Xerodermia Pigmentosa, por más de 30 años viví expuesta a los mortíferos rayos ultravioleta del sol sin protección alguna para mi piel o mis ojos.  En la República Dominicana, ni siquiera los doctores podían ayudarme con mi necesidad médica.  Mi única esperanza para sobrevivir era dejar mi país y venir a los Estados Unidos con una visa médica.  Cuando tenía 4 años de edad, un oncólogo ignorante acerca de lo que significa la Xerodermia Pigmentosa me trató un tumor en mi hombro izquierdo, aplicándome más de 40 sesiones de radiación; negligencia la cual no solamente empeoró cada vez más mi condición, sino que también me pudo haber causado la muerte.  Sabiendo que de haberme quedado en mi país, pude haber muerto en cualquier momento, y después de haber perdido la vista debido a los severos daños en mis córneas causados por los rayos ultravioleta del sol y los terribles tratamientos de radiación, luché por cinco años para llegar a los Estados Unidos.  Vine a este país sintiéndome muy deprimida y muy mal física y emocionalmente.  Mis mejillas estaban ulceradas, mi piel no se regeneraba y tenía ampollas de sangre en mi cara.  Y lo peor de todo fue que en la República Dominicana los doctores nunca me dijeron que debido al daño causado por el sol, yo tenía cáncer de la piel en mis mejillas, brazos y piernas.  Este fue otro golpe duro que recibí a mi llegada a los Estados Unidos.
 
A pesar de todo el dolor y sufrimiento que he tenido que enfrentar durante toda mi existencia, no he permitido que la enfermedad de Xerodermia Pigmentosa se convierta en un obstáculo en mi vida.  ¡Vivo alegre, contenta, feliz y llena de vida!  He superado muchos retos.  He alcanzado metas que muchos pensaban serían imposibles de lograr.  Hace 29 años emigre a los Estados Unidos, me atreví a coger un avión sola para venir a los Estados Unidos después de cuatro fracasos de intentar obtener una visa médica.  Aprendí a escribir y hablar el idioma inglés fluidamente, y con máximo esfuerzo me convertí en Ciudadana Americana.  Aprendí a usar la computadora con un programa especial llamado Jaws, a pesar de que durante mi niñez, en vez de asistir a la escuela como cualquier niño, porque debido a la enfermedad de Xerodermia Pigmentosa, pasé la mayoría de mi tiempo lidiando con médicos y hospitales.  ¿Pero saben qué? En lo primero que me enfoqué a mi llegada a los Estados Unidos, fue en cómo completar mis estudios secundarios.  Y el tratar de encontrar la manera de completar esta meta fue otra jornada muy difícil para mí.  Pero gracias a mi determinación y persistencia, he completado exitosamente mis estudios secundarios por correspondencia. ¡Y cuando me gradué en el 2004 de la escuela Hadley para personas ciegas en Chicago Illinois, fui galardonada como la estudiante más sobresaliente del año!  Y aunque me siento también muy orgullosa de haber recibido otros reconocimientos, mi gran preciado sueño ha sido el haber incorporado la fundación XP Grupo Luz de Esperanza para llevarles información, valentía y coraje a familias quienes sufren de esta devastadora y severa enfermedad.
 
El nacimiento de la fundación XP Grupo Luz de Esperanza, ¡Es para mí un sueño hecho realidad!  Pero debo decirles que la realización de esta organización ha sido uno de mis más grandes retos.  Para mí, esto ha sido una jornada muy difícil.  Yo sabía que la realización de este sueño requeriría tiempo, esfuerzo, sacrificio y muchas veces fue necesario sobreponerme a las voces que me decían: “no, no, tú no puedes hacer eso, tú estás loca, tú nunca lograrás realizar ese sueño.”  Cuando empecé con el proceso de incorporación de esta fundación, Algunas de mis amigas me dieron la espalda, me dijeron que yo estaba loca y que iba a terminar gastando el dinero que no tenía tratando de lograr un sueño imposible.  Aun así, no me di por vencida y seguí adelante  con mi meta sobre cómo incorporar una fundación sin fines de lucro.  Esto no fue una tarea fácil para mí, durante este proceso, lloré, me sentí impotente, sin ayuda, sola y muy frustrada.  Por más de 8 meses estuve lidiando sola con abogados sin ninguna ayuda y tenía en la mesa de mi cocina un grupo de papeles legales que me estaban volviendo loca.  Pero finalmente cuando recibí la carta del Departamento de Rentas Interna (IRS) ¡con el código 501(c) (3) salté y lloré de alegría!  Gracias a mi persistencia y determinación, hoy, ¡la creación de la fundación XP Grupo Luz de Esperanza es un sueño hecho realidad!
 
Debido a la falta de información y el tratamiento adecuado, muchas personas alrededor del mundo están muriendo innecesariamente de esta rara enfermedad de Xerodermia Pigmentosa.  Ellos no saben que existen métodos efectivos para lidiar con la severidad de esta condición.  Y para mí ha sido una gran tristeza saber que no existen grupos de apoyo para personas con XP en América Latina y que además de eso, la información sobre Xerodermia Pigmentosa estaba únicamente accesible para la población de habla inglesa.
 
Con el apoyo de voluntarios y su generosa contribución financiera, la fundación XP Grupo Luz de Esperanza provee información educacional y ayuda a sobrevivir y a mejorar la vida de niños y adultos con XP.  Nuestra página web y todos nuestros materiales son bilingüe.
 
Mi sueño es ayudar a mejorar la calidad de vida de personas afectadas con Xerodermia Pigmentosa y sus familiares.  ¡No me cabe duda que Dios me ha dejado en esta tierra para cumplir con una misión!  Y esa misión es: ¡El llevarle una luz de esperanza a muchas personas con Xerodermia Pigmentosa!

About Congenica:
Congenica is a world-leading developer of genome-based discovery and diagnostic technologies, and has developed the Sapientia genome analysis technology platform that facilitates clinical and R&D decision-making worldwide. A private company, Congenica is backed by leading life science investors including Cambridge Innovation Capital, Amadeus Capital Partners, Parkwalk Advisors, a member firm of IP Group plc, BGI Genomics, Healthlink Capital and Future Planet Capital. Find out more about Congenica at http://www.congenica.com or follow @Congenica. 

About Sapientia™:
Sapientia is a clinical genome analysis software platform that analyzes genome-scale DNA data to produce a comprehensive diagnostic report that can be linked to patients’ symptoms, supporting clinical decision-making about rare genetic disease. The platform is based on pioneering research from the UK’s Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories, and its underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd. Sapientia is also being used in the advancement of personalized medicine by the global pharmaceutical industry to create disease registries, identify patient populations for clinical studies, and support the discovery of novel drug targets and biomarkers.

About UniteGen:
Unitegen is a molecular diagnosis company focusing on precision health services headquartered in Beijing with diagnostic laboratory in Chongqing, China. Founded in 2015, Unitegen team brings experience of R&D, operation, marketing, and sales from health care industry. With investment from Grandhope, a public traded company in China, Unitegen has developed proprietary products covering precision health, precision medicine, and contract research services. www.unitegen.com
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About Beijing 4P Research Institute:
Beijing 4P Health Research Institute is a national non-profit social organization that was initiated by the China Health Promotion Foundation, the National Center for Nanoscience Sciences of the Chinese Academy of Sciences, Radix Healthcare Technology and Nanopep Biotech Corporation, Beijing. Dr. Leroy Hood, an Academician of the Academy of Sciences, Academy of Engineering, School of Medicine, School of Science and Art and Mr. Bai Shuzhon, a former Minister of Health of the General Logistics Department of the Chinese People's Liberation Army and Chairman of the China Health Promotion Foundation, were appointed honorary Deans of the Institute. Mr. Hu Zhiyuan has been appointed as Dean of the Institute, and is a fellow of National Center for Nanoscience, as well as CEO of Nanopep Biotech Corporation, Beijing.

Congenica is at the forefront of integrating genomics into healthcare. The company has developed a platform for utilizing patient-derived genomics data to analyze and interpret genetically inherited diseases by combining patients’ genetic and phenotypic data. Congenica’s platform Sapientia™ is currently being used by hospitals and clinics, diagnostic labs, and pharmaceutical companies, including Great Ormond Street Hospital, London, UniteGen, China and UCB Pharma.

Its nomination was based on its Series B financing round, which had its first close at £8m ($10m) in February 2017 with existing investors Cambridge Innovation Capital plc, Amadeus Capital Partners as well as new investor, Parkwalk Advisors. It then successfully finalized the round in April with additional investments from China-based BGI Genomics (BGI), a recognized global leader in genomics, Healthlink Capital (Healthlink), another well-established China-based life-science investor and Future Planet Capital, a UK-based global innovation fund.

The investment will support the international commercial roll-out of Sapientia, the expansion of customer support as well as further product development and innovation.
The Biotech and Money Awards celebrate funding, finance and investment successes over the past 12 months across the British Life Sciences sector.
Winners of each category are determined 50% based on online voting (can be done here) and 50% on a live voting session during the Awards dinner, which will be held on 14 September in London.

Further details of the Biotech and Money event: Assembly and Awards Gala Dinner
 
Ends
 
Background Information
About Congenica: Congenica is a world-leading developer of genome-based discovery and diagnostic technologies, and has developed the Sapientia genome analysis technology platform that facilitates clinical and R&D decision-making worldwide. A private company, Congenica is backed by leading life science investors including Cambridge Innovation Capital, Amadeus Capital Partners, Parkwalk Advisors, a member firm of IP Group plc, BGI Genomics, Healthlink Capital and Future Planet Capital. Find out more about Congenica at www.congenica.com or follow @Congenica.

About Sapientia™: Sapientia is a clinical genome analysis software platform that analyzes genome-scale DNA data to produce a comprehensive diagnostic report that can be linked to patients’ symptoms, supporting clinical decision-making about rare genetic disease. The platform is based on pioneering research from the UK’s Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories, and its underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd. Sapientia is also being used in the advancement of personalised medicine by the global pharmaceutical industry to create disease registries, identify patient populations for clinical studies, and support the discovery of novel drug targets and biomarkers.

About Biotech and Money Awards 2017
Biotech and Money Assembly and Awards is a 250 person Gala Dinner celebrating the UK’s funding, finance and investment successes in the sector over the last 12 months. Leading lights and emerging stars, C-suite executives, impactful investors and powerful KOLs in the sector will be celebrating at one of London’s finest banqueting halls; Merchant Taylors Hall on 14th September 2017, from 6pm-11pm.
For more information, please visit the website: http://www.biotechandmoney.com/gala-dinner
 
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Set to take place in Boston on October 2 and 3, 2017, the festival encourages filmmakers whose work addresses issues of concern to rare disease patients to submit their film.
[Cambridge, Mass., May 31, 2017] Disorder: The Rare Disease Film Festival (Disorder: RDFF) is a first of its kind event showcasing a myriad of films from around the world that address the challenges of life with a rare disease. Disorder: RDFF expects to screen over two dozen films. The festival aims to increase awareness of these diseases among the general public as well as medical researchers. Originally scheduled as a one day event, the festival has now added a second date to allow for more film screenings through the generous sponsorship of industry leaders including Shire plc, Sanofi Genzyme, and Horizon Pharma.
“We’re proud to support the Rare Disease Film Festival, as we know one of the best ways to raise awareness of rare diseases is through storytelling,” said Yann Mazabraud, North America Head of Rare Diseases, Sanofi Genzyme. “Not only do patients’ stories shed light on the challenges they face, but they also demonstrate the resiliency and hope of the rare disease community and inspire us.”
"We have the privilege to champion underserved patient communities by placing them at the center of all we do," said Flemming Ornskov, MD, PhD, CEO of Shire. "We are thrilled to be sponsoring the Rare Disease Film Festival and encourage any efforts to raise awareness about rare diseases, the patients living with them, and the collaboration needed to find new therapies."
“I’m constantly thinking about how more people need to know about these incredibly inspiring people who persevere through incredible adversity, often doing selfless things for the benefit of others,” said Gail Moore, director of patient advocacy, Horizon Pharma plc. “The Rare Disease Film Festival is so important because it does just that – it’s shining a spotlight on these stories so that more people understand what it’s like to live with a rare disease.”
The Disorder: RDFF was created when two fathers of children with rare diseases – Daniel DeFabio and Bo Bigelow -- met at an advocacy conference and realized they had both made films about their personal experiences. Through this shared experience, they decided to create the first-of-its kind film festival in the United States dedicated to rare disease.
Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter Tess faces. Those same efforts led him to a researcher who is now investigating the disorder and his experience became the basis for his upcoming short film on the USP7 genetic disorder, which will screen at the festival.
"As a parent of a child with a rare disease, I've realized that it's the connections with other advocates that make all the difference. Whether it's another family who knows what you're going through, a filmmaker whose vision perfectly captures your struggle, or a scientist whose cutting-edge research is precisely what you need, these connections spread hope, enthusiasm, and crucial information. That's why we're doing this festival,” explains Bigelow.
Daniel DeFabio's award-winning documentary short film, “Menkes Disease: Finding Help & Hope,” is about the disease affecting his son Lucas, and has screened at numerous festivals and medical conferences. The film is narrated by the Oscar®-nominated actress Mary McDonnell.
“As my documentary toured the festival circuit, I realized in some ways the more ideal audiences were at medical conferences,” said DeFabio, “I began thinking how we could craft a new event to combine the best aspects of a festival with those of a conference.”
As they launch this new endeavor, DeFabio and Bigelow are glad to have the support from some of the leading organizations in Rare advocacy -- NORD, Global Genes, The Mighty and MassBio -- among other groups. DeFabio and Bigelow are not new to running film festivals and advocacy organizations. DeFabio worked for over 20 years in the entertainment industry and founded The Ballston Spa Film Festival, which is now in its tenth year. Bigelow co-founded Maine Rare and is the NORD (National Organization for Rare Disorders) Ambassador for the state of Maine.
As they launch this new endeavor, DeFabio and Bigelow are glad to have the support from some of the leading organizations in Rare advocacy -- NORD, Global Genes, The Mighty and MassBio -- to name a few.
DeFabio and Bigelow are not new to running film festivals and advocacy organizations. DeFabio worked for over 20 years in the entertainment industry and founded The Ballston Spa Film Festival, which is now in its tenth year. Bigelow co-founded Maine Rare and is the NORD (National Organization for Rare Disorders) Ambassador for the state of Maine.
“Events like the RDFF are so important to help raise awareness for the 1 in 10 Americans with rare diseases,” said Lisa Phelps, director of marketing and community relations at the National Organization for Rare Disorders (NORD).
Although film submissions are still being considered, Disorder: RDFF is pleased to already have a few excellent films committed such as the Academy Award® nominated documentary short, “Our Curse,” directed by Tomasz Sliwinski which explores the disorder Ondine’s Curse (aka CCHS); “Imagine” made by a British teenager examining life with Niemann Pick Type C; and the award-winning animated short “Cuerdas” which shows how a young boy with a rare condition fits in at a new school.
Between the film screenings, rare disease researchers, filmmakers, and patient advocates will also share stories from their experience. These discussions have been shown to spark new thinking towards translation applications of current treatments and inspire avenues for new research.
Film submissions are due by June 15th.
More information on the festival, can be found here: www.rarediseasefilmfestival.com.
 Set to take place in Boston on October 2 and 3, 2017, the festival encourages filmmakers whose work addresses issues of concern to rare disease patients to submit their film.
[Cambridge, Mass., May 31, 2017] Disorder: The Rare Disease Film Festival (Disorder: RDFF) is a first of its kind event showcasing a myriad of films from around the world that address the challenges of life with a rare disease. Disorder: RDFF expects to screen over two dozen films. The festival aims to increase awareness of these diseases among the general public as well as medical researchers. Originally scheduled as a one day event, the festival has now added a second date to allow for more film screenings through the generous sponsorship of industry leaders including Shire plc, Sanofi Genzyme, and Horizon Pharma.
“We’re proud to support the Rare Disease Film Festival, as we know one of the best ways to raise awareness of rare diseases is through storytelling,” said Yann Mazabraud, North America Head of Rare Diseases, Sanofi Genzyme. “Not only do patients’ stories shed light on the challenges they face, but they also demonstrate the resiliency and hope of the rare disease community and inspire us.”
"We have the privilege to champion underserved patient communities by placing them at the center of all we do," said Flemming Ornskov, MD, PhD, CEO of Shire. "We are thrilled to be sponsoring the Rare Disease Film Festival and encourage any efforts to raise awareness about rare diseases, the patients living with them, and the collaboration needed to find new therapies."
“I’m constantly thinking about how more people need to know about these incredibly inspiring people who persevere through incredible adversity, often doing selfless things for the benefit of others,” said Gail Moore, director of patient advocacy, Horizon Pharma plc. “The Rare Disease Film Festival is so important because it does just that – it’s shining a spotlight on these stories so that more people understand what it’s like to live with a rare disease.”
The Disorder: RDFF was created when two fathers of children with rare diseases – Daniel DeFabio and Bo Bigelow -- met at an advocacy conference and realized they had both made films about their personal experiences. Through this shared experience, they decided to create the first-of-its kind film festival in the United States dedicated to rare disease.
Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter Tess faces. Those same efforts led him to a researcher who is now investigating the disorder and his experience became the basis for his upcoming short film on the USP7 genetic disorder, which will screen at the festival.
"As a parent of a child with a rare disease, I've realized that it's the connections with other advocates that make all the difference. Whether it's another family who knows what you're going through, a filmmaker whose vision perfectly captures your struggle, or a scientist whose cutting-edge research is precisely what you need, these connections spread hope, enthusiasm, and crucial information. That's why we're doing this festival,” explains Bigelow.
Daniel DeFabio's award-winning documentary short film, “Menkes Disease: Finding Help & Hope,” is about the disease affecting his son Lucas, and has screened at numerous festivals and medical conferences. The film is narrated by the Oscar®-nominated actress Mary McDonnell.
“As my documentary toured the festival circuit, I realized in some ways the more ideal audiences were at medical conferences,” said DeFabio, “I began thinking how we could craft a new event to combine the best aspects of a festival with those of a conference.”
As they launch this new endeavor, DeFabio and Bigelow are glad to have the support from some of the leading organizations in Rare advocacy -- NORD, Global Genes, The Mighty and MassBio -- among other groups. DeFabio and Bigelow are not new to running film festivals and advocacy organizations. DeFabio worked for over 20 years in the entertainment industry and founded The Ballston Spa Film Festival, which is now in its tenth year. Bigelow co-founded Maine Rare and is the NORD (National Organization for Rare Disorders) Ambassador for the state of Maine.
As they launch this new endeavor, DeFabio and Bigelow are glad to have the support from some of the leading organizations in Rare advocacy -- NORD, Global Genes, The Mighty and MassBio -- to name a few.
DeFabio and Bigelow are not new to running film festivals and advocacy organizations. DeFabio worked for over 20 years in the entertainment industry and founded The Ballston Spa Film Festival, which is now in its tenth year. Bigelow co-founded Maine Rare and is the NORD (National Organization for Rare Disorders) Ambassador for the state of Maine.
“Events like the RDFF are so important to help raise awareness for the 1 in 10 Americans with rare diseases,” said Lisa Phelps, director of marketing and community relations at the National Organization for Rare Disorders (NORD).
Although film submissions are still being considered, Disorder: RDFF is pleased to already have a few excellent films committed such as the Academy Award® nominated documentary short, “Our Curse,” directed by Tomasz Sliwinski which explores the disorder Ondine’s Curse (aka CCHS); “Imagine” made by a British teenager examining life with Niemann Pick Type C; and the award-winning animated short “Cuerdas” which shows how a young boy with a rare condition fits in at a new school.
Between the film screenings, rare disease researchers, filmmakers, and patient advocates will also share stories from their experience. These discussions have been shown to spark new thinking towards translation applications of current treatments and inspire avenues for new research.
Film submissions are due by June 15th.
More information on the festival, can be found here: www.rarediseasefilmfestival.com.