The cardio-facio-cutaneous syndrome group in Poland (CFC Syndrome Polska) was created on Facebook in response to parents of children with CFC contacting Anna Krupinskaya, who posted information about her son, Wojtek, on her profile. . In the group, parents exchange advice, contacts to doctors and general knowledge about the disease. The parents expertise also supports doctors, who continuously learn from the parents. The Facebook group currently consists of ca. 20 members.
The MEK2 Research Foundation was founded in November 2024 following the diagnosis of a little girl named Maria with an ultra-rare disease: Cardio-Facio-Cutaneous Syndrome Type 4 (CFC4), caused by a mutation in the MEK2 (MAP2K2) gene. The foundation was established by Maria’s mother, Justyna Walczuk, who quickly realized that to help her daughter, she also needed to support other children with CFC. The foundation focuses on exploring treatment options such as drug repurposing and antisense oligonucleotides (ASO). Although based in Poland, we work to foster international research collaboration. Our mission is to fight for a cure and accelerate research on MEK2 mutations, CFC syndrome, and related RASopathies.
