Rare Diseases

Biography

Biography: Leyla Soraya Camarillo Blancarte

Abstract

The US defines a Rare Disease (RD) as one that affects fewer than 200,000 people or less than 1:2,000 people in Europe. Individual RDs affect less than 5-7 individuals in 10,000, but collectively affect 6-8% of the global population. The incidence of RDs in Mexico varies according to the source, vr.gr. the Mexican Federation of Rare Diseases is 1: 8,000 newborns, the National Pediatric Institute of the Ministry of Health refers that is higher  Ì´1: 1,500 newborns and only 3% get an early diagnosis. The Mexican Organization of Rare Diseases states that there are 6 million. The Incidence Rate (IR) of neural tube and craniofacial defects varies annually, 8.7 and 5.1, respectively in 2016 and 3.5 and 7.3 in 2017; microcephaly’s IR was 0.95 and 2.6 in 2016-2017. There are more than 640 disease registries in the Orphanet database and less than 150 RDs have a marketed drug. The Ministry of Health of Mexico has one federal registry especially for birth defects: Epidemiological Surveillance System of Neural Tube and Craniofacial Defects since 1989 and last year the under secretariat Prevention and Health Promotion announced that there would be a specific registry for RDs. There are more information systems where birth defects are eventually notified. In 2014 the EU health expenditure amounted to 9-11% of its GDP, for the OECD countries it was 6.6% and, in Mexico 2.7% for the 2006-2017 period. The Mexican Health System is comprised by public and private health institutions headed by the Ministry of Health, there are only four compulsory notifiable RDs in the newborn screening program, but every health institution can provide a wider screening according to its own policies. In average, it takes more than 5 years to diagnose a RD and more to provide treatment despite research being conducted.