The Genetic Alliance UK is a charity set up to raise the awareness of rare diseases and provide support for patients. As part of the Rare Disease Day in 2016 they commissioned a report on the experiences of patients with rare disorders. The hope is to provide evidence to submit to the government to help funding for the treatment & diagnosis of rare disorders.
I submitted a patient story for Kallmann syndrome / Delayed puberty which was included in the final published report which was published in Jan 2016.
Four patients, with differing rare conditions were invited to provide a video presentation as well. It was an interesting experience hearing the experience of other patients, sharing some similarities even though we had totally different conditions.
The video will be posted in due course hopefully.