Zapana S. reports for Pagina Siete:
IN BOLIVIA OVER 4O RARE DISEASES ARE RECORDED
Exposure to heat and height can cause “rare” diseases
Scientific Conference and informative exhibition commemorating the Day for Uncommon Diseases. Recommend genetic counseling on pregnancy planning.
The exposure of a pregnant woman at high temperatures (thermal water or oven) plus the height, radiation and drug use are external factors that can help a baby with one of the “rare” or infrequent 40 diseases identified in the country, reported yesterday the Ministry of Health.
A “rare” disease was defined as one that affects a small proportion of the population, occurring in one in every 2,000 to 10,000 people (according to the geographical area). Yesterday, with the first Scientific Conference on the subject began Remembrance Day of rare diseases, remembered every February 28.
The national coordinator of Genetics, Noelya Montecinos, reported that there are internal and external factors that can trigger these diseases. “Internal factors are: genetic predisposition, advanced maternal age, history of consanguinity (marriages between relatives, aunt, uncle, cousin). The external factors are environmental problems such as exposure to radiation, heat (in the sauna oven or photocopier), as well as consumption of drugs,” said the professional.
Recommended that women, particularly during embryogenesis stage, ie up to three months of gestation, should not be exposed to high temperatures. At this stage the embryo is formed and any alteration can cause a rare disease or malformation.
A monitoring conducted by the Confederation of Latin American Collaborative Study of Congenital Malformations, based in Brazil, after analyzing samples of cases sent from Bolivia, identified that one of the external factors that can cause a “weird” disease is the altitude.
“In La Paz, Potosí and Oruro, by their height, there are more cases of microtic, malformation of the ear and anorectal malformations compared to the frequency with which (in countries) occur at sea level,” said the geneticist of the Hospital Arco Iris, Igor Salvatierra.
Montecinos clarified that in other cases the disease caused by a gene mutation is random. “It can happen to anyone, but we must take into account the advanced age of the parents, up from 50 in men and above 35 in women.”
He advised families to go to a geneticist to plan a pregnancy.
More than 40 rare diseases
According to the National Responsible Genetics, between 2013 and 2014, the area served 12,734 patients, of which 417 were referred to the laboratories of the Universidad Mayor de San Andrés (UMSA) so that the causes of their illnesses were identified. “All patients were referred to rehabilitation centers to have a better life,” he said.
Among the rare diseases detected in the country are: Secquel syndrome, which disrupts development; Apert syndrome, which head deformity and malformation of the upper and lower limbs is characterized; and progeroid syndrome, which leads to premature aging and shortens life expectancy of these patients at 25 years.
Because no one is exempt from suffering one of these diseases, the organizers of the conference -the UMSA, the Arco Iris Hospital and the Ministry of Health- conduct a fair tomorrow [02/28/2015] at Camacho square. In the event, in addition to reporting, they will launch more than 800 white balloons into the sky as a sign of the “rare” diseases require [proper attention].