The story of Astrid
Hi my name is Astrid and I live in Austria. I was born with papillomatous hamartoma and an arteriovenous Malformation I was operated from the first at 8 months and from the second at 11. At 20 years old I had thyroid surgery because of nodules on my thyroid (Struma Nodosa. In 2017, I was diagnosed with PTEN Hamartoma Syndrom /Cowden Syndrom . It is a rare genetic disorder caused by mutations in the PTEN tumor suppressor gene. Individuals who are born with a PTEN mutation can be diagnosed as having Cowden syndrome,Bannayan-Riley-Ruvalcaba syndrome (BRRS), or Autism Spectrum Disorder (ASD). The clinical manifestations of PHTS are diverse, but commonly include increased risk of cancers (e.g. breast, thyroid, endometrial, kidney, colorectal and possibly melanoma), benign “hamartoma” tumours in several tissues, as well as macrocephaly, neurodevelopmental delay and autism.
There is no cure or treatment, and current standard of care consists of cancer surveillance in conjunction with behavioural therapy and surgical intervention, as appropriate. Every day on Rare Disease Day I am reminded that I am not alone 🙂