Monthly Archives: February 2019

Four things I learned from an individual with fibrous dysplasia

stethoscope-1584223__340

As it does every year, Orphanet Journal of Rare Diseases is proud to partner with Findacure in its Student Voice essay contest. The overall winner will be published in the journal on Rare Disease Day, and we are proud to present the other finalists here. For this entry, undergraduate and masters students from around the world were asked to use a case study to demonstrate what future doctors can learn from patients with rare diseases. In this blog, Maisha Umama takes us through her experience and what she learned from her time communicating with a patient with fibrous dysplasia.

Rare Disease Day Quiz 2019

quiz

Rare Disease Day occurs annually, on the last day of February. It is an awareness day meant to increase cognizance and spark conversation among decision-makers, the public, and patients about rare diseases and the effects they have on lives. Take our quiz to see how much you know about rare diseases and to discover some things you might not know, from Orphanet Journal of Rare Diseases (OJRD) and other BMC titles.

‘When a mother flees from her newborn’ – comparing Harlequin Ichthyosis cases in Nigeria and the United Kingdom.

Ultrasound detail

As it does every year, Orphanet Journal of Rare Diseases partnered with Findacure in its Student Voice essay contest. The overall winner will be published in the journal on Rare Disease Day, and we are proud to present the other finalists here. For this entry, undergraduate and masters students from around the world were asked to compare and contrast rare disease healthcare provision of two countries of their choice. In this blog, Naomi Morka compares pre-natal diagnosis and management of harlequin ichthyosis between a developed and a developing nation.

What can future doctors learn from patients with rare diseases?

General practitioner doing blood test

As it does every year, Orphanet Journal of Rare Diseases partnered with Findacure in its Student Voice essay contest. The overall winner will be published in the journal on Rare Disease Day, and we are proud to present the other finalists here. For this entry, undergraduate and masters students from around the world were asked to use a case study to demonstrate what future doctors can learn from patients with rare diseases. In this blog, Timothy Badcock describes his experience in helping a patient with X-linked agammaglobulinaemia.