Theresa from Rödermark is four years old. Early on, her parents Christiane and Timo von Rosbitzki noticed that their daughter was developing more slowly than other children. Theresa learned to sit, crawl, and walk later than most. Many tests and eventually genetic testing brought certainty: Theresa has Sanfilippo syndrome, type III B.
Living with a Rare Diagnosis
Sanfilippo syndrome is one of the lysosomal storage diseases and can lead to progressive damage to the nervous system. Currently, there are no curative therapies. With the diagnosis, the family began to intensely engage with a disease that is hardly known even among healthcare professionals. “Many people have never heard of Sanfilippo,” say Christiane and Timo von Rosbitzki. “We want to change that. Because awareness means hope for us—hope for research, for new therapies, and for support for affected families.”
The family is now also active in international networks and Sanfilippo initiatives to encourage the exchange between affected families and raise public awareness of the disease.
What is Sanfilippo syndrome?
Why Research is Crucial
Researchers worldwide are working on new therapies for rare genetic disorders like Sanfilippo syndrome. These include gene therapy approaches as well as strategies to slow disease progression. Especially for neurodegenerative rare diseases, time is a critical factor: the earlier diagnoses are made and new therapies are developed, the greater the chance of effective treatments.
Progress is often only achieved through the collaboration of research, dedicated families, international networks, and public awareness. For affected families, every new study, research project, and networking opportunity offers an important perspective. “We hope. As long as we can hope, we will,” says Christiane von Rosbitzki.
Making Rare Diseases Visible
The Eva Luise and Horst Köhler Foundation is committed to fostering, increasing visibility, and strengthening the exchange between science, medicine, and affected families in the field of rare disease research. Stories like that of Theresa and her family bring to light the people behind medical terms and abstract designations.
Visibility alone doesn’t replace therapy. However, it can help spread knowledge about rare diseases, connect those affected, and advance research.
What can you do?
- Interested supporters: Enable research into rare diseases by supporting funding programs, initiatives, and organizations dedicated to affected families and new therapy approaches.
- Patients and relatives: Use networking options such as self-help groups, registries, and specialized centers. Exchanging ideas with others affected can provide valuable support, guidance, and shared experience.
- Professionals in medicine and research: Continue educating yourself about rare diseases, share knowledge, and strengthen interdisciplinary networks. Training programs and exchange across professional boundaries help to identify rare diseases earlier and further improve care.
Further information about Sanfilippo syndrome: SE-Atlas; Orphanet
Learn more about Theresa and her family: Instagram; Cure Sanfilippo Foundation
Photo: private
