MeesSm

NAME: Mees Lebouille

CURRENT AGE: 4

HOME TOWN & STATE: The Netherlands

DIAGNOSIS DATE: 9-8-2018

PARENTS: Haikje & Rik

SIBLINGS: Brother Tein & Sister Fiene

What it felt like when we learned our child has SLC6A1? We knew something was wrong but to hear that it was a gene defect and thus something that is so definitive was confronting. This is what we are going to have to deal with our whole lives, this is not going to disappear somehow. Nobody can tell us how Mees’ future is going to look and that is frightening.

How did you know something was wrong?  When Mees was about 6 months old he was very interested in his hands. He kept looking at them and turned/moved his hands in front of his eyes/face. He did not use them to pick things up. That´s where it all started. We got referred to the physiotherapist, who referred us to the pediatrician. At first I thought that Mees just didn´t want to touch things with his hands because he was insensitive/too sensitive in his hands. Then we started with solid food. When we gave him something to eat what he never had he just didn´t seem to know what to do with it in his mouth. The taste was no problem but the structure was. When time passed he missed more and more milestones. So it was clear his development was staying behind. When he was 2 years and 9 months old we got the results of his genetic test which said that he has a gene defect at his SLC6A1 gene. Mees always played with his hands. He had no interest in toys or materials. Now that he is 4 the interest in toys is a bit more, but still very little. Besides his hands he loves people and music!

The hardest part of being an SLC6A1 family? SLC6A1 is rare, and that means that most people don’t know a lot about it. You want to help your child the best way possible but nobody took us by our hands and told us what to do, just because nobody knew how. You have to figure out a lot by yourself and there are no medicines or cure (yet). We are so grateful for this SLC6A1 community and all the work Amber is doing. It means we can share information about our children and have hope for the future.

What are your dreams for Mees? That he learns to communicate and understands what we are saying. That he is happy and a it would be fantastic if he can lead an independent life.

Why would you like people to donate to SLC6A1 Connect? This gene therapy could change lives! What if all the SLC6A1 children can live a normal or better life? And this seems something that is a possibility due to this gene therapy. What if this works? This therapy is so important, it can be life changing for so much families!