NAME: Roos

CURRENT AGE: 14

HOME TOWN & STATE: Utrecht, Netherlands

DIAGNOSIS DATE: February 2017

PARENTS: Joost and Rina

SIBLINGS: Isa

What it felt like when we learned our child has SLC6A1? 

When Roos was 6 months old, we noticed that she didn’t progress the same as other babies-  she walked at 22 months and she didn’t speak until she was 2.5 years old. We visited one of the best children’s hospitals in the Netherlands (WKZ) but they were unable to diagnose Roos. In 2016, Roos’ neurologist proposed DNA research due to advances in this field. When Roos was diagnosed, there were only a few other children with this diagnosis worldwide, and it was terrible to learn that there was no cure. However, finally knowing what Roos was experiencing made us even more determined to help her and every child afflicted with SLC6A1. At the moment we joined the rare disease community, we were able to gain the help we needed for Roos and our family.

The hardest part of being an SLC6A1 family? 

Sometimes it is very hard, but after recently Googling SLC6A1 again, we discovered that dozens of other children had been diagnosed over the last few years. We stumbled upon an article of Mees (an SLC6A1 child) and then discovered there was a possibility of a cure due to incredible research efforts underway in America. It was unbelievable to learn that a group of mothers- led by Amber Freed and Kimberly Fry- spearheaded this possibility. Our neurologist had no idea that so much progress had been made in America since Roos was their only SLC6A1 patient. We are thrilled to now be a part of this special, dedicated community. 

What are your dreams for Roos? We want Roos to lead a happy life and to be able to achieve whatever she likes. This would be possible with genetic therapy, because multiple symptoms would diminish and we would expect great improvement for her.

Why would you like people to donate to SLC6A1 Connect? 

We would love for every SLC6A1 child to have the same opportunities as healthy children. Your donations fund the necessary research behind securing a cure for both the diagnosed and unborn children affected by this horrendous disease.

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