30th Aug 2008 - Prof Jorge Sequeiros speaking at the MJD Foundation Launch
For more information on Prorf Jorge Sequeiros, visit his blog.
"First of all, I would like to thank the traditional land owners for the invitation and this privilege and rare opportunity to be here. Many thanks to the MJD Foundation for inviting me to its launch and to address the community, and, if I may, a very special thank you to Libby and Gayangwa. Thanks also to Garth Nicholson and John Macmillan for allowing me to share with them this fantastic experience here in Groote Eylandt. Finally, I would like to address Bryan and Kathy, on this very special occasion for them, having just come to the end of a long, long road of great dedication to and serving in this community.
I have been involved with MJD for over 30 years now and have seen many MJD and ataxia associations coming and going. Some are still very incipient and amateur, while others became truly professionalized. A few are very strong in terms of support to the families or even to other associations, and others are yet very prosperous and able to fund medical research. There is no single model and variations are plenty, but all need to be deeply enrooted in their community and involve mainly the patients and their families, those who are more deeply affected by the disease.
But I have also known more than a few that have collapsed and completely disappeared, as it takes quite a large effort to create, but mainly to maintain a foundation like this over a long period of time. Patient associations need and deserve all the support health professionals and researchers can provide. They need financial and other support from their government and health authorities. But, above all, they need the support and collaboration of the patients and families themselves and of the whole community.
Most of the associations I saw disappearing have subsided precisely due to lack of interest or insufficient support from the community and the affected families, because they were unable to involve them as they should. A foundation like this simply cannot live, in the long run, from the exclusive efforts of one person or two, as no one can endure alone such a big effort for most of their lives, no matter how dedicated they are to the families and the community.
MJD is a cruel disease, but much is being done at present to overcome it. It is important to know that we all are getting closer to a treatment every day. Research is made up of small steps, and even a small step may often take a long time; but, with all these small steps together we will get there sooner or later. For this, the researchers and the MJD Foundation will need the support of patients and families affected and of the whole community, the government and health authorities, and from all those who may and must provide it, as those who explore the richness of this country.
Much research is being done (here in Australia, but also in many other countries); and this is because MJD is all over the world, not just here in Groote. You are not alone in this affliction. Many other persons, many other families, are going through similar pain and suffering and a similar struggle to build associations like this in many places. Some of these (in Portugal, UK, Brazil, the US) have sent me photos of many of their local families just for me to bring and show you that MJD is all over the world, but also that they care about you and the creation of the MJD Foundation. Groote Eylandt is very well known to the entire MJD scientific community and patient associations all over the world.
The single most important thing a patient association can do is just being there, to put affected families in touch with others who go through the same problems and similar suffering, and thus break their isolation.
As here in Groote, people in other places have felt shame and guilt about MJD, and have thought that MJD was the result of something bad they once did, or of alchoolism, manganese or other poisoning. It is important to know this is a genetic disease and that there is nothing that people could have done wrong to bring it about, nor anything they can have done to prevent it. MJD just runs in families and passes from one generation to another.
There is still no cure for MJD at this moment, but this does not mean that nothing can be done about it. And it is precisely because there is no cure, that even the smallest things become so important.
People with MJD and other hereditary diseases have been neglected for a long time, in many countries and communities: neglected diseases in neglected persons, often in long neglected communities, where the disease makes the families even poorer and more vulnerable.
MJD does not just affect patients, but the whole family and the entire community. People who come from an affected family, have to face, since birth, the stigma and the burden of the risk of later becoming affected, and of possibly transmitting the disease to their offspring; and here, again, the MJD Foundation can also help significantly.
But one of the greatest burdens falls upon those who have to care for the patients (usually blood relatives or spouses). To the pain of having relatives affected and all the painful efforts of caring for them (often at the cost of their professional and personal lives), it is added the suffering of seeing offspring and other loved ones at risk and then coming down with MJD. Carers also need and must be cared for, and cannot be forgotten by the MJD Foundation.
Medical genetics can now also provide some help for those persons who belong to affected families, and are at risk and want to know if they will get MJD in the future, in order to plan their lives, including having their own family. Implementing a predictive program in the community will be very important for the near future.
Family-centred, community-based and culture-sensitive genetic counselling has been tried before with success in MJD, without decreasing the quality of its services. This should help people cope better with the disease. But, in addition, the responsible and ethical application of these programs may result, on the long run, in a decrease of the incidence of the disease and thus be productive for the whole society. Furthermore, these programs will result in increased attention and better care for patients and relatives, and in a better knowledge about the disease and better means to combat it.
Along these few days, I became more and more convinced that, though culturelly sensitive approaches are needed for this community (e.g, when communicating information about the disease, explaining risk, or exploring openness for predictive and prenatal testing), the main issues arising are not that much different from what we see in other places. But medical geneticists and genetic counsellors know all this well and how to provide cross-cultured approaches and services.
In brief, there is so much the MJD Foundation can do (and will certainly be doing) for MJD patients, their families and carers, to improve quality of life of MJD sufferers, facilitate and promote high quality services in the community and foster research in general. I thus hope the MJD Foundation will be able (even if slowly, but steadily) to fulfil all these roles, and wish you all the best of luck for its future!"