The story of Janette
Our story and fight since that terrible diagnosis.
After several years trying to get pregnant, finally I did, in 2010… ‘It will be a very strong boy’ the doctor said. And he arrived with those big eyes, wanting to rule the world. He was growing up very fast, I heard his first words, saw his first steps, I could see him travelling around the world. Always so happy. He looked smarter than other children of the same age.
Before turning two, the worst nightmare for any parent began. The rapid growth of his eyebrows was what made us suspect it had something to do with hormones. We were quickly sent for genetic tests. After three months he was diagnosed with a terminal disease and we were told that he was going to endure a very short and painful life. The monster’s name was Sanfilippo Syndrome type A.
Of course it hasn’t been easy. Confronting so much pain, my son’s and mine, as well as that of the whole family, it’s the most difficult thing that a mother could endure… especially a son’s pain. In no time life was shaking, dreams were dissipating and the pain was indescribable.
First of all, we looked for any sort of information, we contacted experts and looked for other cases. We quickly found a group of parents that were doing all they could to save their children, to find a cure, and I joined them. There are possibilities of saving him, there is a genetic therapy that can get rid of what’s intoxicating his body. And that hope, together with Iñaki are the strength that allow me to get up every day.
A strength that has turned into a fight. The Foundation Red Sanfilippo in Mexico was founded and we have one more arm since then in this war against the disease.
No child should have to live with such a destiny. Iñaki is a happy child, kind, with very impressive strength.
This is my son Iñaki, this is me… we are fighting against Sanfilippo’s syndrome.
Strong in the fight.
Connect with other families in the international Sanfilippo community:
https://www.rareconnect.org/en/community/sanfilippo-syndrome