The story of Federica
My name is Federica and I live in Italy with my our 2 children, manuel 11 and riccardo 9 years old, respectively. Manuel have a rare disease,has macrodactyly in her right foot. Macrodactyly is a little-know disease. This is the reason why I choose to talk about it. It is characterised by a sometimes significant overgrowth of 1 or more fingers or toes (due to the enlargement of bone, fat tissue, tendons and nerves) and can manifest in two forms: the static and the progressive one. Only recently researchers identified the possible cause of isolated macrodactyly, i.e. a somatic gain-of-function mutation in the PIK3CA gene, and that many deseases that were thought to be separate entities belong to a single spectrum called PROS (which is the acronym for PIK3CA-Related Overgrowth Spectrum). Macrodactyly and the limb overgrowths that often accompany it belong to the PROS spectrum.We have founded a charity here in Italy to help children with the disease and their parents. This is our website. www.macrodattilia.it. Last december we had our first conference with specialists of different areas (surgeons, geneticits, physical therapists, experts in gate analysis, psychologists. Videos from the conference are available on our website. We are providing them with subtitles so that even English-speaking people can understand them. All our children are special!