NAME: Suus 

CURRENT AGE: 6

HOME TOWN & STATE: Mander, Overijssel, The Netherlands

DIAGNOSIS DATE: June 2017

PARENTS: Sander and Fleur 

SIBLINGS: Lieve (11) and Duuk (9)

What it felt like when we learned our child has SLC6A1? It was a long journey to find out that Suus had SLC6A1. The first problems appeared during pregnancy and continued after she was born. Luckily Suus is our third child, so after a few months we knew there was something wrong with her development based on the experience with our other two children. Suus’ doctor also recognized this and requested DNA research. At the beginning they thought it was a metabolic disease, but that was excluded. Subsequent testing also did not lead to a diagnosis. Finally, the WES (Whole Exome Sequencing) research made it clear that Suus had SLC6A1 syndrome.

It was a tough day when we learned this, because we knew Suus would be affected her entire life. Suus was 3 years old and we already had a lot of care and support for her motor, language, speech, cognitive, and social-emotional development. At that moment, we realized that the most care and support had yet to come. That was a difficult realization for us as parents, but on the other hand it confirmed our suspicion that there was a cause of Suus’ developmental delay. We also felt proud of Suus; she is beautiful and wonderful just the way she is. We are so lucky to have her as a part of this family. 

The hardest part of being an SLC6A1 family? One of the hardest parts of this journey is the fact that SLC6A1 is a rare syndrome. Not much is known about the best treatment and what issues we can expect as Suus grows older. Our doctor uses Suus as an example for updating SLC6A1 on her own website (www.kinderneurologie.eu). In addition, the care and support that Suus requires is daunting. Our life is a constant whirlwind of reinventing what is possible and what Suus needs at her current level of development. This also demands a lot of her sister Lieve and her brother Duuk. Luckily, we have a strong social network to support us.

What are your dreams for Suus? Suus is a lovely little girl. We hope that she can eventually see this and fully understand how much joy she brings into our lives. We hope that she can one day fully participate in society, in her own beautiful way.

Why would you like people to donate to SLC6A1 Connect? We need you to donate so that we may fund a cure for SLC6A1! We want nothing more than for this to become a worldwide approved and available cure for our precious children.