One day, my husband Fortunat and I, Elisabet, decided to have a child, with the maximum illusion that this decision means for any couple that loves each other. At the end of August 2015, a beautiful girl was born. It is Ivet, she is our doll and that of all those around her. The initial moments were magical and you savoured them to the fullest.
When the two years told us that it would not be more than a child’s age, the world collapsed behind the words of the Doctor. What a tough day: we knew we had a very difficult fight ahead of us!
Ivet has a defective gene, SUMF01. This gene produces a protein, which in the case of our daughter, is not produced or is produced incorrectly, which causes the disease Multiple Deficit of Sulfactase, which in scientific nomenclature, is MSD.
Ivet is 3 years old and is born of two divorced parents. His father has two children, 18 and 24 years old. I have 3 more, of 15, 14 and 10 years old. The 5 brothers of Ivet, love and help each other, and they love her and will help her in everything she needs. We are not a conventional family, but we like the family that we form, and the fact of being so many, not only has never scared us, but it has encouraged us in all the decisions and way of life that we have been doing.
What does scare us, is the challenge we have now ahead: a degenerative disease at home, a small defenceless girl with immense difficulties to achieve her day to day, a day by day increasingly complicated for her and for us. We are already suffering the devastating effects of the disease, she does not hear well, she has stopped walking, she has stopped standing up, she has stopped crawling, … we need the scientific advance to stop the degeneration since the disease has no brake and she lose little by little the skills that you have left, the ability to swallow, the sight, the function of your organs will deteriorate, your brain will be severely damaged … 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 work is being done with gene therapy by MSD, this therapy is the scientific advance necessary to stop and improve the lives of all children suffering from MSD.
We need your support to be able to offer Ivet and the other affected children a treatment to fight MSD and have an opportunity in life.
THE HOPE OF LIFE, IS 10 YEARS
The Fundació MSD – Déficit Múltiple de Sulfactasa aims to promote and support the advances in the scientific investigation of MSD disease.
Help us make it possible!