February 2020

"When Julieta arrived in Montevideo, Uruguay on September 24, 2001; I was 23 years old. Her father and I had been together for five years and she made us so happy! When Julieta was 15 months old, we started to notice unexplainable changes in her.

These same changes were also noticed at her daycare, so we decided to take her to a neuro-pediatrician. This was the beginning of a cruel and painful process, through which we could see our daughter “disappearing” month by month and nobody could give us an explanation.

When Julieta turned three, she had to stop going to preschool. I quit my job and I would spend my time with her at home, going to medical and therapy appointments. Those were exhausting times, so many tests and no answers. A lot of fear and uncertainty; everything changed dramatically - our social and family life and our relationship as a couple.

In 2016, still without a definite diagnosis, the first opportunity of an experimental treatment abroad arose. We grabbed on to it even though it wasn’t a definite solution, but it helped improve Julieta’s quality of life and it gave us hope.

In November 2018, the INAD diagnosis was confirmed. For a while now, doctors had been explaining to us the possibilities, the expectations and the care. We learned a world of things, among them that we were strong, and our daughter was strong, and that we were ready to fight for her life till the end. We are not aware if there’s another case like Julieta’s in our country. It was only in 2019, when we were recruited for a clinical trial in the U.S., that we met other families in the same situation. When it comes to rare disorders, we believe that spreading awareness and getting an early diagnosis are crucial.

Today, Julieta is eight years old, and we’re grateful to have her with us. We hope her case will help others in the near future. Thank you!"


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