Erika Stariha is the mother of the first child in Slovenia diagnosed with SATB2-associated syndrome (SAS), as well as the founder and president of SATB2-Europe.
SATB2 Europe's aim is:
“To improve quality of life for individuals with SATB2 syndrome through discovery and development of targeted treatments and enhanced availability of appropriate care”.
SATB-2 associated (also known as chromosome 2q32-q33 deletion syndrome or Glass syndrome) is a rare genetic syndrome caused by mutations in the SATB-2 gene leading to developmental delays, intellectual disability, and speech and language difficulties.
The main symptoms can be remembered using the acronym S.A.T.B.2 :
- S = Severe speech anomalies
- A = Abnormalities of the palate
- T = Teeth anomalies
- B = Behavioral issues with or without Bone or Brain anomalies
In this podcast, Amanda Hansson Hedblom, Senior Associate at FIECON, talks to Erika Stariha about the patient journey and her experiences as both a parent of a child with SAS and as a patient advocacy leader.
