Diagnosing a Rare Disease – a Case from Ireland

Mike and Joyce speak with Gloria in Ireland. She shares her family’s adventure in achieving a diagnosis of her daughter first for a brain tumor, and then for a rare syndrome, von Hippel-Lindau (VHL) which has implications for other kinds of tumors as well.

We learn how her persistence was essential in getting to a correct diagnosis and appropriate treatment for her daughter, who is doing very well. There are lessons for all of us in trusting our own instincts, and in knowing what is normal and what is unusual in your own family members. The doctors bring their knowledge of the science and of sorting out what diagnosis might be right. The patient and the family bring their description of the symptoms, the sequence of events, and the pattern of when the symptoms are better or worse. It is only through this partnership that we can get to a diagnosis, especially of a rare disease.

For help with VHL in UK and Ireland, see http://vhl-uk-ireland.org/

Worldwide, see http://vhl.org