1. Guía metabólica: empowerment through health
2.0 tools in inborn errors of metabolism
Mercedes Serrano#1, Jaume Pérez-Payarols*2, Júlia Cutillas*3, Jordi Fàbrega*4Manuel Armayones**5 M Antònia
Vilaseca#6
Neurometabolic Unit, Hospital Sant Joan de Déu, U-703 Barcelona, Spain and Centre for Biomedical Research on Rare
Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain
1
mserrano@hsjdbcn.org
6
vilaseca@hsjdbcn.org
*
Innovation & Research and Communication Departments,Hospital Sant Joan de Déu, Barcelona, Spain
2
jpayarols@hsjdbcn.org
3
jcutillas@hsjdbcn.org
4
jordi@hsjdbcn.org
**
Psychology and Educational Sciences Deparment. Internet Interdisciplinary Institute (IN3) Psinet Research Group.UOC,
Barcelona, Spain
5
manuelarmayones@uoc.edu
Abstract— Inborn errors of metabolism (IEM) is a very affecting people’s general wellbeing, not interfering with
heterogenous group of more than 500 diseases that mainly traditional care.
appear during childhood and are considered rare diseases. The
effectiveness of Web-based interventions on patient I. INTRODUCTION
empowerment, that is essential for patients with rare diseases Inborn Errors of Metabolism (IEM) is a very heterogenous
due to different reasons, has been recently proven. group of more than 500 diseases. Despite they are all different
Guiametabolica.org aims to create an interface for people in clinical presentation and evolution, prognosis, biochemical
involved in IEM, trying to facilitate the access to information, the features and type of inheritance, they share some
contact with professionals and other patients and offering a
characteristics. They usually appear early in life, normally
platform to develop supporting groups. We also present in this
paper preliminary results about impact on patients’ life. We during the childhood. They are considered rare diseases
developed a frequently-updated 2.0 website in Spanish which because they affect less than 5 people in every 10,000.
offers clinical and scientific information in easy jargon, tips and Furthermore, empowerment is essential for patients with rare
recommendations for the daily life, geolocated resources, specific diseases, which are chronic, difficult to manage, rare and
recipes for controlled diets in proteins, carbohydrates and fat, largely disregarded by the research or the medical community
and stories and games for children. Through the comment field and policy makers, this process of empowerment is essential
Guiametabolica.org offers the possibility to ask for them [1] [2]. Empowerment is the “process of increasing
medical/nutritional questions to clinical professionals, and capacity of individuals or groups to make choices and to
provides the opportunity of sharing experiences among families.
transform them into desired actions and outcomes”. The
In the last 18 months we have registered 132,391 unique visitors,
157,830 visits, and 456,993 page views with average time on site World Health Organization (WHO) has described
of 3:02 minutes. More than 60% of the visitors came from empowerment as a “pre-requisite for health”. The
different parts of America, especially Latin-America. We have effectiveness of Web-based interventions on patient
had 9 weekly consultations that have been replied by the empowerment in chronic diseases has been recently proven,
nutritional/medical staff involving, all together, 495 comments. specially referred to achieving self-efficacy, mastery and
Guiametabolica.org has been widely considered for Spanish- control [3]. On the other hand, online support groups reduce
speaking IEM patients and their environment as a source of feeling of loneliness and social isolation.
information. Participation is high probably due to the profile of Guiametabolica.org aims to create an interface for people
our users; most of them are young e-caregivers with very high
involved in IEM, mainly parents, trying to facilitate the access
level of implication. The impact on patients’ feelings and self-
perception is currently being evaluated. Preliminary results show to information, the contact with professionals and other
changes in their habits, but notorious improvement in their similar patients and offering a platform to develop supporting
senses of loneliness and self-efficiency. In conclusion, we groups. Guiametabolica.org aims to use internet as a tool for
acknowledge that poor communication contributes to the health IEM patients’ empowerment.
literacy related disparities in understanding of disease and health
status interfering with the empowerment process. Specific IEM II. METHODS
websites, specially 2.0 tools and online support groups, might be We developed a frequently-updated 2.0 website in Spanish
considered as a possible supplement to more traditional offering the following contents:
professional approaches. Their contribution lies significantly in

2. (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 in order to be printed.
(2) Translated abstracts (from English into Spanish) of
more than 200 articles with scientific contents and medical
advances, as well as monothematic articles about medical
issues.
(3) More than 70 tips and recommendations for the daily
life.
(4) 32 geo-resources including hospitals, patient
associations, specialized shops,…
(5) 150 specific recipes for controlled diets in proteins,
carbohydrates and fat. Recipes are elaborated by our dieticians
but also sent by visitors and only displayed after a nutritional
evaluation.
(6) 6 stories for children in which IEM patients are the
leading characters.
Through the comment field Guiametabolica.org offers the
possibility to ask medical/nutritional questions to our clinical
team. Guiametabolica.org also provides the opportunity of
sharing experiences among families. All the comments are
supervised by our medical/nutritional staff. Every month, a
newsletter is edited and sent to the registered user database
(n=753, 18th November, 2011).
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 communication and
audiovisual media.
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 the incidence of IEM.
A recently began study is evaluating Guiametabolica.org
impact on e-patients and e-caregivers’ feelings and self-
perception as well as their developed skills and abilities, as a
measure of their empowerment process. We sent to the
registered users and we offered in the website a newly
elaborated questionnaire to assess the utility of
Guiametabolica.org including four major domains: (1)
epidemiological characteristics of users, (2) participation in
the website, (3) users’ evaluation of contents, and (4) changes
in their daily life and feelings.
III. RESULTS
From May 1st, 2010 to October 31st, 2011 we have
registered 157,830 visits, and 456,993 page views with
average time on site of 3:02 minutes. More than 60% of the
visitors came from different parts of America, especially
Latin-America (Fig. 1, Fig.2, and Fig.3).

3. Fig. 1
Map view of Guiametabolica.org and top ten countries regarding visits to
the website (from Google Analytics, 18th November, 2011).

4. B. Preliminary evaluation of impact
Regarding the preliminary evaluation of impact, to date, we
have analysed 65 completed questionnaires.
1) Visitors profile
Among the responders, 80.0% are e-caregivers, 4.6% are e-
patients and 7.7% are health professionals (physicians,
researchers,…). Regarding frequency, 72.3% of users visit
Guiametabolica.org at least once per week. The most common
way to get in touch with Guiametabolica.org was through the
medical staff of the Hospital Sant Joan de Déu (44.6%), who
acts as the main prescribers. Among the visitors that have
Fig. 2 Evolution of Unique Visitors of Guiametabolica.org from Google
Analytics (18th November, 2011)
answered the questionnaires, 83.0% are registered visitors.
2) Participation in the website
Of all the responders, 33.8% regularly write
comments/questions. Among those who do not write, there are
a number of reasons: 20.9% is because they do not require it
but they would write if they need to, 11,9% is because of
shyness and 7.0% do no feel comfortable sharing data on
internet. In none of the answers the selected reason was lack
of trust in the answer.
3) Users’ evaluation of contents
Helpfulness of the different categories of contents were
scored (1-to-4) by the users. The most useful contents in a
decreasing order resulted: medical/nutritional responses to
comments (mean: 3.48), specific recipes (mean: 3.47),
Fig. 3 Evolution of Visits of Guiametabolica.org from Google Analytics (18th scientific/medical information (mean: 3.38), and tips and
November, 2011) recommendations for the daily life (mean: 3.30). Comments
from other patients, tales and games and geolocated resources
were considered as quite useful (mean: 3.07, 3.07 and 2.89,
A. Comment Field respectively).
We have had, on average, nine weekly consultations that 4) Changes in daily life and feelings
have been replied by the nutritional/medical staff, involving Regarding information about IEM 96.5% of users have
all together, 495 comments. Requests to contact with other discovered new information or have increased their
parents represent 8.9%of the comments (Table I) knowledge. Concerning changes in daily life, 51.8% has
changed or introduced at least one new habit. In relation to the
TABLE I events suggested in our website, 50.0% have attended at least
TYPE OF USERS’ CONTRIBUTIONS (18TH NOVEMBER, 2011) one event. Regarding solitude, 76.4% of the visitors
Number Contributions acknowledge that they feel less lonely and 69.1% realize that
Comments/Questions/Answers they are doing well when getting in touch with other in the
same situation.
119 Medical/nutritional questions
163 Medical/nutritional responses from
nutritional/medical staff
55 Medical/nutritional responses from other users
IV. CONCLUSIONS
44 Requests to contact with other patients/caregivers To our best knowledge this is the first website 2.0 focused
114 Other kind of intervention on IEM facilitating information about several IEMs and online
Recipes consultations with medical/nutritional staff.
135 Guiametabolica staff In general terms, there is probably an excess of health
25 Users/ Fundación Alicia/ Consumer Eroski information on the internet (phenomena usually known as
Geo-resources “infoxication”). This is especially true for prevalent diseases.
22 Guiametabolica staff However, regarding rare diseases there is a lack of
9 Users information, particularly in terms of easy-to-understand

5. information. Guiametabolica.org offers relevant and updated In summary, poor communication contributes to disparities
information in easy jargon that is, in fact, considered as one of in understanding of disease, probably related to differences in
the most useful contents by our visitors. As Barak et al stated, health literacy. These disparities in understanding of disease
a sense of personal empowerment is often achieved by may affect health status and interfere with the empowerment
acquiring relevant information and knowledge, especially process.
when information is acquired through direct access to relevant Specific IEM websites, specially 2.0 tools and online
sources [4] [5]. Moreover, successful communication may be support groups, might be considered as a possible supplement
especially important for patients with chronic medical to more traditional professional approaches. Their
conditions, such as IEM patients [6]. contribution lies significantly in affecting people’s general
Taking into account the low incidence of IEM, our wellbeing, not interfering with traditional care.
estimated target population is very limited. However, our
results after 18 months of work show that Guiametabolica.org
has been widely considered for Spanish-speaking IEM
patients and their environment as a source of information. ACKNOWLEDGMENT
One important fact to analyze is the high percentage of The authors want to thank Fundación Alicia and Consumer
visits coming from Latin America. We believe that our role in Eroski for their contribution with receipts and menus. Support
some of those developing countries has to do with the limited was received from the Biomedical Network Research Centre
resources that they probably have for health in general and on Rare Diseases (CIBER-ER, ISCIII).
particularly for rare diseases.
Users of Guiametabolica.org are very participative. To
explain this fact, we would like to remark the particular
profile of our users; rather than e-patients, they are mainly e- REFERENCES
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