It is good to know that generally, Rare diseases reflect a group of conditions with low prevalence, often appear at birth and can cause functional or structural abnormalities. They may also be detected later in one’s life, are mostly life-threatening, result in long-term disability and negatively affect individuals, families, healthcare systems and society. Mostly, affected patients are left uncared for as the area of rare diseases remains neglected in Ghana’s health care system. Currently, diagnostic services and treatment or management of these diseases is highly rudimentary and unsatisfactory.