A statement by Garmitxa:
At Garmitxa, we would like to share with you all the start of a study to identify possible mutations or genetic alterations that could be behind the disease that our children suffer. Should the disease be genetic in origin or if there is a gene that incurs a high risk and can be identified, it could serve as a basis to start designing treatments. However this is slow as it needs plenty of time and hard work.
This study will be carried out by Dr. F. Javier Chaves Martínez, a researcher from the Genotype and Genetic Diagnosis Unit of the INCLIVA Clinical Research Institute in Valencia.
We owe this success, in part, to Helen Warburton and Antonio Maravilla, the people who discovered us by communication means and who told Dr. Chaves about this disease. He said he was interested in our case and immediately contacted Garmitxa and the medical team at the Hospital de Cruces attending Garikoitz , Mikel and Aimar, specifically Doctors Iñaki Irastorza, an associate doctor of Gastroenterology and Child Nutrition at the Hospital de Cruces, and Dr. Carlos Tutau.
Since March 2012, thanks to Dr.Chaves’ hard work and many efforts, his project for this genetic study has been submitted to many bureaucratic proceedings and to different national and regional Ethics Committees. All this effort will be awarded in June 2013 when this project will commence.
Below is a brief explanation of this project by Dr. Chaves himself:
“Although the idea is simple, the work involved is complex. It is based on the notion that if the origin of this disease is genetic, the regions of our genome where the alterations causing this disease are most likely to be found is the exome. These regions produce an mRNA from our DNA (the part of the genome that transcribes to produce RNA, and partly proteins). These regions are where the majority of mutations causing hereditary diseases are found (about 90% of them). The work will consist in sequencing and analysing some 60,000,000 DNA bases in the patients and in identifying those variations which can be related with the disease by comparing their presence in each family (segregation between parents and children, new mutations, etc.) and between different families. With this work, we will identify several of the possible genes and mutations, and then we will be able to verify them in other patients or by laboratory studies”.
Thanks to your huge support and help, Garmitxa is about to fulfil its greatest wish, to start taking steps in this great adventure: research. This study will be done with the three Garmitxa children and also with any other cases that the doctors from the Hospital de Cruces believe it is convenient to work with,and also with their closest relatives.
We are aware that this study will take months, and that the research work will take years, and there is no guarantee that anything will be discovered. However, for all of us at Garmitxa, it is very important to know that we are accomplishing things, we are doing our bit with our work, and that with our efforts and your help, we will manage to improve the life of our children and the life of any new cases that may emerge in the future.
We believe that the work being carried out here from Garmitxa will make it easier in the future for the children and their families who face this disease to move forward on, what Dr. Irastorza called a long time ago, the marathon that fighting this disease with no name implies.
Garmitxa is a non-profit organisation created by two families whose children’s food is based exclusively on an elemental formula because they cannot eat ANY food whatsoever.
GARMITXA’s aims are to:
1. Promote research and a treatment by grouping those affected to work together in fulfilling shared objectives.
2. Guide those affected and their families to face this disease, its origin and to seek research and a treatment.
3. Diffuse and make the public opinion and the Public Administration aware of this particular problem.
4. Collaborate with organisations that seek the same purpose.
5. Improve the quality of life of those children with this disease.
To fulfil these purposes, the following activities will be carried out:
1. Collect public and private funds to cover the families’ expenses and to pay for research.
2. Inform society and the medical world so they are aware of the effect, consequences, etc., of the disease.
3. Award grants, aid and subsidies to people who this disease affects for their health care, treatment and to improve their quality of life.
4. Award grants, aid and subsidies to individuals or legal entities to study the disease, its treatment and cure.
5. Any other activities not expressly mentioned but which could help improve the quality of life of the children who have this disease.
6. Undertake healthcare- and welfare-type actions which address children with this disease.