We are a normal family, female worker without any antecedent with any kind of rare disease, that we have run into in life with a great milestone, etc..
Since they were diagnosed in our youngest daughter, the Ivet, our life has done a ride and we have gone from full happiness, to a very large. To know that she has the days counted, know that you won’t be able to do anything that we do, (the most simple of all, nor drink water if it’s not with added), or understand things or express themselves, or walk, or run, or climb mountains …. What limitation more immense.
She is totally dependent on someone that care, that help you in everything, everything and everyone. But within their limitations, and within their own world, we believe that she is happy.
We look, we see, feel loved, it gets really happy when it comes to the common cuckoo of Dallas, the day nursery where care and love each other very much, not only the educators that are wonderful, but also children. They have a very important role in your life, have an instinct that we do not have the adults, know well that it is different and the care, shelter, and most important of all is that they have in mind for everything.
Our goal is without a doubt that she does not suffer, you smile and be happy all the time to be with us and for this reason we have no other path than that of the investigation. To improve the lives of children suffering from MSD not only with love and the constant attention that we give all who surround ourselves, but also with research advances and with full hope in a better future for her and for all the children suffering from MSD.
Best of all is that science already know how they can “cure” the disease, but that lack of resources is not thrown forward projects like what we want to promote us. Gene therapy is a technique that locates the defective gene and replaces it with the correct gene in order to cure genetic diseases, such as MSD.
We want to get resources to investigate, to move forward and to save rare disease pareixin in the future of our society, whether it be with the prevention or care, in particular the who we are at home, which is the MSD – Multiple Deficit of Sulfactasa.
