Dear all- it is with great pride that the project I have named “Factor_H” will launch in Mendoza, Argentina on October 12, 2012. This is an initiative that originated during a visit to Rio de Janeiro when I and CHDI clinical started officially the Latin American Network of clinicians and scientists. During this visit, I met with patients and their advocates as well as with Latin American scientists and physicians. In one of the most moving moments in my life, an affected person in a wheelchair approached me after my seminar. He held my hand and asked his wife to translate from Portuguese. While holding my hand, he said to me: “I know you will not be able to help me; it is too late for me, I know. But please, please, help my daughter!”
It was during this moment that I realized that I needed to do more. Science unfortunately works slowly, and until we find effective treatments, there is a need to get involved and do whatever possible to help those in need. Latin America is an area where the prevalence of HD is higher in certain communities than in the general population, including many cases of juvenile HD. Discrimination, inter-marriage, geographical isolation, and poverty have all contributed to a situation where people in those areas lack the most basic needs. Food, clothing, housing, access to care. During this trip to Brazil, I also was influenced by a comment that Asun, the head of the International Patient Association, made during a roundtable discussion about the emerging Latin American Network. She became visible upset when we spoke of how those communities could help us scientists understand HD better by donating samples and collaborating with us. She mentioned that this had happened in the late 80s, early 90s, when the gene was identified because of the involvement of the large community that resides in Venezuela. She also mentioned that in spite of their contribution to scientific research, their living situation had not changed, and many were literally dying on the floor and living in extreme poverty conditions.
It was this trip that marked a turning point in my life. I became convinced that in addition to my role as a scientist, I could do much more. Given the fact that through my scientific work I got to know everyone in the HD field, and I had earned their respect, I had the opportunity to help those affected communities through humanitarian efforts. I started then thinking about what to do, and how to do it. The outcome of this process is “Factor_H”, a social project aimed at helping those most in need in Latin America. “H” stands (in English) for Hope, Huntington’s, Humanity (In Spanish, Hermandad, Huntington’s, Humanidad). These efforts are still nascent, but we are collaborating with Habitat for Humanity to build homes for those in need of more adequate housing, as well as raising funds to build care facilities or schools (depending on the need of each community). Soon, Habitat for Humanity (www.habitat.org) will add a project for HD and a link for people to make tax-exempt donations towards this effort. I am also trying to reach other international NGOs (Unicef etc) for other types of help. I will create a website for the project so people can track our progress and donate money.
The initial areas of focus are located in Venezuela, Colombia, Brazil, Peru, Chile and Argentina. I am planning on visiting these communities in the next few years but I have already been in contact with the local physicians and patient advocates.
Below I explain the goals of “Factor_H”. Read it please!!!
I could not do this alone: I am blessed to have ‘enrolled’ Claudia Perandones and Federico Michelli (doctors form Argentina), Maria Beconi and Celia Dominguez (scientists at CHDI), Rodrigo Osorio (the founder and president of the HD Chilean association), Asuncion Martinez (president of the Internation HD Patient Association), and Juan Negrillo (my childhood best friend and an organizer of large events through his company). Others will help in due course. It is important to note that this initiative is completely independent of CHDI and all of us involved are doing this during our free time!
The ‘launching event’ will include a fundraising concert in Mendoza on October 12, 2012. Maria Volonte (www.mariavolonte.com), a very talented Tango singer and a dear friend, will perform, along with a Tango dance company and Charles Sabine who will speak about his experience of living with HD.
Below is the ‘explanation for Factor_H’
Thanks to all for reading and for your (future) support!!
Introduction and mission for the project
- To enhance the quality of life of the affected communities of Latin America
- To increase awareness at a local level of the communities most affected by HD
- To mobilize local communities and local youth to provide social and medical assistance to affected populations
- To fundraise and publicize the needs of the affected communities.
- To influence legislative issues to facilitate access to government assistance through local governance
What is ‘Factor-H’?
A non-for-profit social project to increase the awareness of people living with and affected by Huntington’s disease, to facilitate social aid to diminish the suffering of local communities in Latin America; An effort to unite socially minded individuals through creative social, journalistic, medical, scientific, and political means to eliminate suffering to those affected by genetic disorders and Huntington’s disease specifically; A movement born in order to mobilize youth in Latin America, and to change the neglect and suffering of those affected by genetic conditions and poverty; A way of bringing a smile, a friendly hand, and a sense of hope to those in desperate need of help.
A project sprung from a desire of physicians, scientists, musicians, affected and unaffected people to change the lives of those suffering from rare genetic disorders and Huntington’s disease specifically.
Introduction to the problem
Huntington’s disease (HD) is a genetic, fatal, and progressive neurodegenerative disease. It affects people with a worldwide prevalence of 0.5-1 per 10,000 people. HD does not discriminate based on ethnicity or gender. It advances slowly, but relentlessly. The disease is caused by mutations in a single gene, called Huntingtin, and the penetrance of the mutation is 100%. If one is born with Huntingtin mutations, today one will die from Huntington’s disease (provide he/she lives long enough). The progression of the disease is variable depending on the type of mutation one inherits. Although less common than the adult-onset Huntington’s disease, a juvenile form of the disease exists, and it is rather prevalent in many Latin American communities.
Latin America holds a special place in the history of HD; in its scientific history. The identification of the mutations causing HD was achieved after an international effort because of the large numbers of related, affected people living in the Maracaibo region of Venezuela. However, after 20 years since the discovery of the gene, the quality of life of affected people in Venezuela and elsewhere has changed very little. It is out of this fact and out of a desire to help these affected communities, that the concept behind ‘Factor-H’ was born. HD is highly prevalent across many communities in Latin America. Geographical isolation and the individual histories of these communities have contributed to a prevalence of the disease that in some cases is 500-1000 times higher than in other regions. The consequences of this high prevalence, and the poverty conditions in which these communities exist, have led to a situation that requires immediate attention. Poverty, ignorance and disease are a terrible combination that leads to inadequate healthcare, nutrition and living conditions. Juvenile HD cases are abundant, and in many instances entire families are incapacitated to care for themselves because so many of the family members are affected.
Factor-H is a project that aims to address the medical and social issues that most hurt people affected by HD in Latin America, through raising awareness, mobilizing communities, and providing infrastructure to help these communities grow with dignity and hope.
A genetic condition renders one unable to change one’s fate; it should not destine someone to a life without hope. A person with special needs requires special attention. Factor-H aims to raise awareness and aid so that one day that special attention is provided regularly, and so that people affected with HD can live productively and with dignity in an environment of respect, care and love.
Location of affected communities (Location, Local Representatives or physician contacts)
Dr. Carlos Cosentino
Dra. Pilar Mazetti
Dr. Mario Cornejo
Huntington Society of Peru
Mrs. Maria Begazo Viza (Arequipa, Peru)
- Patients are dispersed. Main focal point is Santiago de Chile
Rodrigo Osorio: Rodrigo@huntington.cl
Dr. Federico Michelli, email@example.com
Dra. Claudia Perandones
Asociacion Para el Apoyo a los Enfermos de Huntington (APAEH)
Catamarca 19, Rufino (Santa Fé) CP 6100,
Tel mobile: 54-9-3382-578922 ;
Tel : 54-3382-4-28658 03382 4 28658
Email : firstname.lastname@example.org
Website : www.huntingtonargentina.com.ar
Dr. Ernesto Solís Añez
Dr. Olmedo Ferrer Ocando
ASOCIACION VENEZOLANA DE HUNTINGTON
Mrs Aleksa Gonzalez de Zambrano
Tel: +58-212-7517 654; Fax: +58-261 5011
Website : http://avehun-venezuela.webnode.com.ve
- Feira Grande, Maceio; Aparecida Alencar; email@example.com
- Sao Paulo, Dra. Mónica Santoro Hadad, Dra. Vanderci Borges
- Ribeirao Preto, Dr. Vitor Tumas
ASSOCIACAO BRASIL HUNTINGTON
Fundación Huntington Colombia: http://www.fuhcol.blogspot.com.es/