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Guía metabólica and the Rare Diasease Day 2012

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Guía metabólica joins the celebration of the Rare Disease Day on February 29th,2012. …

Guía metabólica joins the celebration of the Rare Disease Day on February 29th,2012.
http://www.guiametabolica.org

Published in: Health & Medicine, Education
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  • Percepción de los pacientes con ER: Estudio de 2500 pacientes con enf. crónicas. Los pacientes con ER (8,2%) tenían la percepción de mayores pérdidas de oportunidades sociales y económicas así como desventaja en cuanto a asistencia médica. (van Weely, 2006) Complejidad: Diagnóstica: a veces el diagnóstico es un reto, son enfermedades cuyo conocimiento entre los médicos es limitado, no se piensa en ellas, se retrasa el diagnóstico y hay además dificultades para acceder a servicios especializados. Terapéutica: Carencia de tratamientos etiológicos y de inversión farmacéutica Afectan a un proyecto de vida normal de quien la padece pero también de sus familias y entorno. Percepción de los pacientes con ER: Estudio de 2500 pacientes con enf. crónicas. Los pacientes con ER (8,2%) tenían la percepción de mayores pérdidas de oportunidades sociales y económicas así como desventaja en cuanto a asistencia médica. (van Weely, 2006) Complejidad: Diagnóstica: a veces el diagnóstico es un reto, son enfermedades cuyo conocimiento entre los médicos es limitado, no se piensa en ellas, se retrasa el diagnóstico y hay además dificultades para acceder a servicios especializados. Terapéutica: Carencia de tratamientos etiológicos y de inversión farmacéutica Afectan a un proyecto de vida normal de quien la padece pero también de sus familias y entorno. Estudio de 2500 pacientes con enf. crónicas. Los pacientes con ER (8,2%) tenían la percepción de mayores pérdidas de oportunidades sociales y económicas así como desventaja en cuanto a asistencia médica. (van Weely, 2006) Diagnóstica: a veces el diagnóstico es un reto, son enfermedades cuyo conocimiento entre los médicos es limitado, no se piensa en ellas, se retrasa el diagnóstico y hay además dificultades para acceder a servicios especializados. Terapéutica: Carencia de tratamientos etiológicos y de inversión farmacéutica Afectan a un proyecto de vida normal de quien la padece pero también de sus familias y entorno.
  • Percepción de los pacientes con ER: Estudio de 2500 pacientes con enf. crónicas. Los pacientes con ER (8,2%) tenían la percepción de mayores pérdidas de oportunidades sociales y económicas así como desventaja en cuanto a asistencia médica. (van Weely, 2006) Complejidad: Diagnóstica: a veces el diagnóstico es un reto, son enfermedades cuyo conocimiento entre los médicos es limitado, no se piensa en ellas, se retrasa el diagnóstico y hay además dificultades para acceder a servicios especializados. Terapéutica: Carencia de tratamientos etiológicos y de inversión farmacéutica Afectan a un proyecto de vida normal de quien la padece pero también de sus familias y entorno. Percepción de los pacientes con ER: Estudio de 2500 pacientes con enf. crónicas. Los pacientes con ER (8,2%) tenían la percepción de mayores pérdidas de oportunidades sociales y económicas así como desventaja en cuanto a asistencia médica. (van Weely, 2006) Complejidad: Diagnóstica: a veces el diagnóstico es un reto, son enfermedades cuyo conocimiento entre los médicos es limitado, no se piensa en ellas, se retrasa el diagnóstico y hay además dificultades para acceder a servicios especializados. Terapéutica: Carencia de tratamientos etiológicos y de inversión farmacéutica Afectan a un proyecto de vida normal de quien la padece pero también de sus familias y entorno. Estudio de 2500 pacientes con enf. crónicas. Los pacientes con ER (8,2%) tenían la percepción de mayores pérdidas de oportunidades sociales y económicas así como desventaja en cuanto a asistencia médica. (van Weely, 2006) Diagnóstica: a veces el diagnóstico es un reto, son enfermedades cuyo conocimiento entre los médicos es limitado, no se piensa en ellas, se retrasa el diagnóstico y hay además dificultades para acceder a servicios especializados. Terapéutica: Carencia de tratamientos etiológicos y de inversión farmacéutica Afectan a un proyecto de vida normal de quien la padece pero también de sus familias y entorno.
  • Organismo de investigación: Misión: Investigación monográfica sobre una patología o problema de salud concreto. Grupos de investigación, sin contigüidad física. Centrados en un área específica común, coordinándose entre sí para la consecución de unos objetivos científicos que difícilmente podrían plantearse en un contexto de ejecución más restringido. Organismo de investigación: Misión: Investigación monográfica sobre una patología o problema de salud concreto. Grupos de investigación, sin contigüidad física. Centrados en un área específica común, coordinándose entre sí para la consecución de unos objetivos científicos que difícilmente podrían plantearse en un contexto de ejecución más restringido.
  • Menos de una quinta parte de las enferemdades raras tienes registros de pacientes. Son registros iniciads por pacietne so por investigadores, pero muchas veces son específicos de cada país, no homogéneos. Pero los estilos de vida los son cada vez más. The world has become smaller. The present and the future show that health and disease are universal and can come anytime and from anywhere. Dp Dator No sólo deberían ser comunes para tods lo países, inclusos para las diferentes enferemedades raras se deberían establecer datos comunes…cultural obstacles, not technical obstacles: Open-science community for rare diseases orphan drugs legislations con incentivos económicos, dedicated funds todo ellos en un marco de Colaboración internacionalCompañias farmacéuticas: Aprender sobre enferemdades raras puede llevar a hallazgos para otra enferemdades más comunes: - Mutaciones en el gen Glucocerebrosidadsa (Enf De Gaucher) y FR Parkinson. - Convulsiones neonatales familiares benignas (canales de K voltaje dependientes): desarrolo de fármacoas antiepilépticos con estos canales como diana,
  • Los pacientes con enfermedades raras como modelos para otro tipo de enfermedades:
  • Primera infancia probabelemente mayor vulnerabilidad, se fragua la personalidad. Adolescencia
  • Inborn Errors of Metabolism (IEM) is a very heterogenous group of more than 500 diseases. Although they are all different in clinical presentation and evolution, prognosis, biochemical features and type of inheritance, they share some characteristics.
  • They usually appear early in life, normally during childhood. They are considered rare diseases because they affect fewer than 5 people out of 10,000. Furthermore, empowerment is essential for patients with rare diseases, which are chronic, difficult to manage, rare and largely disregarded by research, the medical community and policy makers . This process of empowerment is essential for the
  • The relation between e-patients and e-doctor is in our case modified by the participation of some mediators, 2 mediators. But, curiously, more elemnts give, as a result, a very powerful connection in our case. The first element is the hospital. The incorporation of the hospital gives the possibility of managing more inputs than the medical/nutritional staff alone. The second element is probably the most important: e-cargiver, but very particular e-caregivers.
  • They are normally parents with a young child suffering an IEM, and then they probably are in the third, fourth or fifth decade of their lives, which increases the likelihood of their being Internet users. Furthermore, parents acting as e-caregivers could be more active and participative for two powerful reasons. The first one is related to affection; maternal and paternal relations are possibly the strongest, perhaps even more than filial, conjugal or fraternal ones. The second one is due to the disconcerting situation of a child suffering a chronic illness. Chronic or severe diseases are probably more easily accepted when they affect elderly people. When they involve children this may lead to uneasiness and generates numerous questions that need responses, making the e-caregiver more participative, involved and commited.
  • There is probably an excess of health information on the Internet (a phenomenon usually known as “infoxication”). This is especially true for prevalent diseases. However, regarding rare diseases there is a lack of information, particularly easy-to-understand information. We aim to offer relevant and up-to-date information in easy jargon.
  • Guiametabolica.org aims to create an interface for people involved in IEM, mainly parents, by facilitating access to information and contact with professionals and other similar patients, and by offering a platform for developing support groups.
  • The Guiametabolica.org technical and editorial team is made up of one specialist in clinical biochemistry, one nutritionist, one child neurologist, one mother representing families and patients’ associations, one journalist specialized in social media and the Internet, and one expert in online audiovisual media and webmaster.
  • The target audience is patients, patients’ families, patients’ associations, professionals, teachers, friends, physicians, nurses, researchers…
  • The estimated target population is about 62,000 people, considering that Spanish is used in the website and based on the incidence of IEM.
  • (1) Scientific information in easy jargon about clinical features, biochemical traits, genetics, treatment and prognosis of more than 60 IEMs. They are also presented in a leaflet format for easy printing
  • (5) 150 specific recipes for controlled diets in proteins, carbohydrates and fat. Recipes are prepared by our dieticians but also submitted by visitors, and displayed only after a nutritional evaluation.
  • Translated abstracts (from English into Spanish) of more than 200 articles with scientific contents and medical advances, as well as monographic articles about medical issues.
  • (4) 32 geo-resources including hospitals, patient associations, specialized shops…
  • 6 stories for children in which IEM patients are the leading characters.
  • Through the comment field Guiametabolica.org offers a chance to pose medical/nutritional questions to our clinical team. Guiametabolica.org also provides a chance to share experiences among families. All the comments are supervised by our medical/nutritional staff.
  • Every month, a newsletter is published and sent to the registered user database
  • We have had, on average, 9 weekly consultations that have been handled by the nutritional/medical staff, involving all 495 comments all told. Requests to contact other parents represent 8.9% of the comments
  • Perfil que se repite: padres de niño pequeño buscan padres de niño grande y al propio paciente adulto
  • A recently begun study is evaluating the impact of Guiametabolica.org on e-patients and e-caregivers’ feelings and self-perceptions as well as their developed skills and abilities, as a measure of their empowerment process. We sent a recently prepared questionnaire to registered users and offered it on the website as well, with the aim of assessing the usefulness of Guiametabolica.org, focusing on four major domains: (1) epidemiological characteristics of users, (2) participation on the website, (3) users’ evaluation of contents, and (4) changes in the daily life and feelings of users. Regarding information about IEM, 96.5% of users discovered new information or increased their knowledge. Concerning changes in daily life, 51.8% changed or developed at least one new habit. In relation to the events suggested in our website, 50.0% attended at least one event. Regarding feelings of solitude, 76.4% of the visitors acknowledged that they felt less lonely and 69.1% realized that they were doing well when getting in touch with others in the same situation. We have to admit that online questionnaires are definitely not the best way to assess a websites’ impact on life because they may have several biases. More accurate evaluating tools will be required in the future
  • In summary, poor communication contributes to disparities in understanding of disease, probably related to differences in health literacy. These disparities in understanding of disease may affect health status and interfere with the empowerment process. Specific IEM websites, especially 2.0 tools and online support groups, should be considered as a possible complement to more traditional professional approaches. Their contribution lies in the effect they have on people’s general well-being while not interfering with traditional care.
  • Transcript

    • 1. www.guiametabolica.org Neurometabolic Unit HSJD andDepartment of Innovation and Research
    • 2. Rare diseasesDefinition EU: 1) Any disease that affects a small percentage of the population,they affect fewer than 5 people out of 10,000 2) Dissabilities altering life quality and life expectancyThere are 5.000 to 8.000 different diseases (WHO)
    • 3. Rare diseasesParadox of rareness ardsAll together may affect 6-8% of the s of Spani million ansgeneral population than 3 de E urope More illions m orld N ear 30 n the w ons i 35 0 milli
    • 4. Common features1. They are chronic, difficult to manage, rare and largely disregarded by research, the medical community and policy makers Aymé S. The Lancet 2008;371:96292. Near 80% of rare diseases have a genetical basis. Then, the majority of them will appear during the childhood.
    • 5. ProblemsIn the diagnosis:Sometimes is a real challenge.Knowledge about this kind of diseases is limited among physicians (GP,pediatricians…).If doctors do not think about rare diseases they are not going to diagnose them.There are delays in the diagnosis.
    • 6. ProblemsIn the management:Patients with RD must be referred to big Units, expert doctors in each disease.Geographical mobility.In the therapy:In general, there is a lack of investment in therapies for rare diseases, it is notprofitable.
    • 7. ProcessProgressive awareness of society and of social policies, mostly due to patient’sorganizations power.Priority in the Health Programs in the EU 2004: Rare Disease Task Force with participants from patientsorganizations. 2013: Every state in the European Unit must have adopted a national strategy for rare diseases.
    • 8. Process2007: CIBERER Project, Centre for Biomedical Network Research on Rare Diseases
    • 9. Needs... manyInternational registries of patients:No single country has sufficient numbers of patients to do generalizable research.…cultural obstacles, not technical obstacles: Open-science community for rare diseases!CollaborationInternational collaboration Patients Clinical and basic researchers Politics Pharmacy Companies
    • 10. From the rarity... To be a model Then, they are a group of very empowered patients among the others. RD patients have fight a lot to be recognised and treated in the way Nowadays, they are a model for other they need kind of patients who are looking for improvements in the diagnosis and treatment for more common diseases
    • 11. Pediatric Rare Diseases “The essence of Pediatrics: growth and development” R.S. Illingworth Physical point of view: weight, height…. Emotional point of view: Children with rare diseases are going to grow being different, but we want to help them to be secure, with self- esteem, self-efficacy.
    • 12. Empowerment through Health 2.0 tools inInborn Errors of Metabolism
    • 13. - Very heterogenous group - More than 500 diseasesDiseñado por Donald E. Nicholson, The University of Leeds,Inglaterra. http://www.iubmb-nicholson.org/gif/InbornErrors.html
    • 14. IEM Common Characteristics1. They usually appear early in life, normally during childhood2. They are considered rare diseases (< 5/10,000) Visitors profile
    • 15. MediatorsE-PATIENTS E-CAREGIVERS Medical Staff Hospital Medical Staff
    • 16. Mediators 1. Healthy persons, 30-to-50 years old E-CAREGIVERS 2. Strong affection 83% 3. Disconcerting situation of a child suffering a chronic illness More participative, involved and committed
    • 17. Resources Easy-to- understand Information for information? IEM Health Information AIM 1 To facilitate the access to information - Quantity - Quality (easy jargon)
    • 18. Rare diseases, minoritary diseases AIM 2 To create an interface for people involved in IEM - contact with professionals and other similar patients, - offering a platform for developing support groups.
    • 19. Methods We developed a frequently-updated 2.0 website in Spanish
    • 20. Our teamGuiametabolica.org team:• one nutritionist,(2) one specialist in clinical biochemistry,(3) one child neurologist,(4) one mother representing families and Patients’ Associations,(5) one journalist specialized in social media and the Internet,(6) one expert in online audiovisual media and webmaster.
    • 21. Target audiencePatients, patients’ families,patients’ associations, teachers,friends, physicians, nurses, researchers…
    • 22. Target audienceConsidering that Spanish is used on the websiteand based on the incidence of IEM.Target audience 62.000 people
    • 23. Content (1) Scientific information in simple language about more than 60 IEMs.
    • 24. Content(2) Scientific information in simple language about clinical more than 60 IEMs.(2) More than 70 tips and recommendations for daily life
    • 25. Content(1) Scientific information in simple language about clinical more than 60 IEMs.(2) More than 70 tips and recommendations for daily life(3) 160 specific recipes for controlled diets (proteins, carbohydrates, fat)(4) 16 complete menus
    • 26. Content(1) Scientific information in simple language about clinical more than 60 IEMs.(2) More than 70tips and recommendations for daily life (3) 160 specific recipes for controlled diets (proteins,carbohydrates, fat) (4) 16 complete menus(5) Translated abstracts of more than 200 articles with scientificcontents and medical advances, as well as monographic articles aboutmedical issues.
    • 27. ContentGeolocated resources
    • 28. Content Stories and games
    • 29. Comment field Medical/nutritional Supervised by our questions Medical/Nutritional staff Share experiences among families
    • 30. Newsletter Every month, a newsletter is published and sent
    • 31. Results From May 2010 to December 2011: 198,702 visits coming from more than 100 countries, 558,381 pages views during 2:19 minutes on average. About 70% of the visits came from America, especially Latin American countries.
    • 32. Map view of Guiametabolica.org (Google Analytics, Dec 20)
    • 33. Comment field On average, 9 weekly consultations Total of 677 comments Requests to contact other parents represent 17% of the comments
    • 34. Results About the comments: 25% On the disease itself(process dx, monitoring bq, research…) 10% On special situations or diseases associated 15% Questions about nutrition / special diets 17% Requests for contact with other families 15% Gratitude, an expression of loneliness, anxiety… 13% Telling personal experiences, tips, recommendations, reflections… 6% Practical topics: travel, shopping, support for taxes…
    • 35. Preliminary evaluation of impact 81 completed questionnaires; 73% users visit Guiametabolica at least 1/week, 34% regularly write comments/questions 83% 8% 5% e-caregivers health professionals e-patients
    • 36. Preliminary evaluation of impactChanges in daily life and feelingsDiscovered new information or increase their knowledge___________96.5%Changed or developed at least one new habit____________________51.8% Do we offer new information?Acknowledged that they felt less lonely___________________76.4% We present information ↓ Feelings of lonelinessRealized that they were doing well when getting in touch with othersjargon same in easy in the ↑ Self-efficacysituation_______________________________________69.1% ↓ Level of self-criticism ⇑ Empowerment
    • 37. Conclusion: Take home a messageSpecific IEM websites, especially 2.0 tools and online support groups, shouldbe considered as a complement to more traditional clinical approaches, asthey improve patients and caregivers’ general well-being while not interferingwith traditional care.
    • 38. Future projects ... NowTranslation: Increase our target audience
    • 39. Future projects ... NowE-rare: “e-Patients generating Collective Intelligencefor the Biomedical Advance on Rare Diseases” #LoweResearch

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