Guía metabólica and the Rare Diasease Day 2012

www.guiametabolica.org Neurometabolic Unit HSJD andDepartment of Innovation and Research

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)

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

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.

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.

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.

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.

Process2007: CIBERER Project, Centre for Biomedical Network Research on Rare Diseases

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

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

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.

Empowerment through Health 2.0 tools inInborn Errors of Metabolism

- Very heterogenous group - More than 500 diseasesDiseñado por Donald E. Nicholson, The University of Leeds,Inglaterra. http://www.iubmb-nicholson.org/gif/InbornErrors.html

IEM Common Characteristics1. They usually appear early in life, normally during childhood2. They are considered rare diseases (< 5/10,000) Visitors profile

MediatorsE-PATIENTS E-CAREGIVERS Medical Staff Hospital Medical Staff

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

Resources Easy-to- understand Information for information? IEM Health Information AIM 1 To facilitate the access to information - Quantity - Quality (easy jargon)

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.

Methods We developed a frequently-updated 2.0 website in Spanish

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.

Target audiencePatients, patients’ families,patients’ associations, teachers,friends, physicians, nurses, researchers…

Target audienceConsidering that Spanish is used on the websiteand based on the incidence of IEM.Target audience 62.000 people

Content (1) Scientific information in simple language about more than 60 IEMs.

Content(2) Scientific information in simple language about clinical more than 60 IEMs.(2) More than 70 tips and recommendations for daily life

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

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.

ContentGeolocated resources

Content Stories and games

Comment field Medical/nutritional Supervised by our questions Medical/Nutritional staff Share experiences among families

Newsletter Every month, a newsletter is published and sent

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.

Map view of Guiametabolica.org (Google Analytics, Dec 20)

Comment field On average, 9 weekly consultations Total of 677 comments Requests to contact other parents represent 17% of the comments

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…

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

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

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.

Future projects ... NowTranslation: Increase our target audience

Future projects ... NowE-rare: “e-Patients generating Collective Intelligencefor the Biomedical Advance on Rare Diseases” #LoweResearch

Guía metabólica and the Rare Diasease Day 2012

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Guía metabólica and the Rare Diasease Day 2012 Presentation Transcript