Assessment of cost-of-illness and impact of rare diseases contributes to estimate the needs determined by rare diseases for the health care system. The main aim for allocating the necessary resources is to reduce the rare diseases effects for patients and their families, health care system and society, in general. The quantification of direct costs (medical and non-medical) and indirect costs generated by loss of productivity can hope to design a picture about the rare diseases impact. The estimated annual average cost per patient in this pilot study is about 15000 Euros. This value is under the European average cost generated by rare diseases, because the loss of productivity and the payment of caregivers are calculated based on the average salary in Romania. The new medical technologies are expensive and require a careful analysis that would create a balance between costs and outcomes in social and health care system.