One day, my husband and i, Fortunatus, Elisabet, we decided to have a child, with the maximum that this decision poses to any couple who is estimated. At the end of August 2015 was born a beautiful girl. Ivet is, it is our privilege necessary and of all who surround it. The initial moments were magical and we enjoy to the fullest.
When the two years we were told that it does not happen in the child age, the world we collapsed behind the words of the Doctor. Which day harder: we knew we had to fight a very hard!
The Ivet has a defective gene, SUMF01. This gene produces a protein, which in the case of our daughter, does not occur or occurs incorrectly, which causes the disease Sulfactasa, which in scientific nomenclature multiple Deficits, it is MSD.
The Ivet is 3 years old and was born of two divorced parents. His father has two sons, 18 and 24 years old. I have 3 more, 15, 14 and 10 years. The five brothers of the Ivet, they love each other and help, i love you and will help you in everything you need. We are not a conventional family, but we like the family that we are, and the fact of being so many, not only did we have been scared ever, but has encouraged us in all of our decisions and way of life that we have been making our own.
What frightens us, is the challenge that we have now in front of them: a degenerative disease inside your home, a small helpless girl with immense difficulties to achieve their day to day, a day to day becoming more complicated for her and for us. We are already suffering the devastating effects of the disease, she doesn’t feel well, has ceased to walk, has to leave to get right, has stopped crawling, etc. We need the scientific breakthrough to stop the degeneration because the disease has no brakes and she will lose little by little the skills that you are, the ability to swallow, the view, the function of its organs will deterioraran, your brain will severely they will abuse… the life expectancy of children suffering from MSD, is 10 years.
Currently there is no cure, nor any approved treatment to stop the process, but it is working with the research gene therapy by MSD, this therapy is scientific progress necessary to check and improve the lives of all children suffering from MSD.
We need your support to be able to offer in the Ivet and the other children affected a treatment to combat MSD and he could have a chance in life.