Nurse Beth Nguyen is a patient with syringomyelia, a rare disease in which cysts form inside the spinal cord. In this interview, she describes how the disease affects her daily activities.
Study in Neurology, shows most ALS patients chose physician-assisted suicide due to loss autonomy and dignity, and being unable to do enjoyable activities.
At the 2016 NORD Summit, we found out what Von Hippel-Lindau disease was through the Executive Director of the VHL Alliance, Ilene Sussman.
Here are the rare disease numbers of the week.
In this interview during the Rare Disease Heroes Award Ceremony, Horacio Kaufmann, MD of NYU Dysautonomia Center talks about this rare neurological condition that affects the autonomic nervous system.
A 16-year-old spina bifida patient stood out of his wheelchair when an American Flag passed by during a parade.
Teva Pharmaceutical Industries announced that the FDA has accepted the resubmission of the New Drug Application (NDA) for SD-809 (deutetrabenazine) to treat chorea associated with Huntington disease (HD).
At the NORD Summit of 2016 we interviewed Jocelyn Duff Executive Director of the Cure CMT4J Foundation about the foundation and CMT4J.
8-year-old Ellie McGinn can't ever pronounce her rare disease name, so she wants to change that.
In this interview during the Rare Disease Heroes Award Ceremony, Lee and Zachary Parker talk about Zachary's diagnosis of hyperinsulinism