RARE DISEASES DAY

PRIMARY PREVENTION STRATEGIES:

 FOLIC ACID SUPPLEMENTATION IN PREGNANCY (DCTN)

A different type of primary prevention is exemplified in the promotion of folic acid

supplementation for women of childbearing age to prevent neural tube defects in their
children. Neural tube defects that are listed as rare by ORDR include spina bifida and
anencephaly. To prevent fetal exposure to harmful agents, many medications come with
prominent warnings advising against use of the drug for pregnant women. Other drugs are
approved with special precautions to limit the chance of fetal exposure.

 REDUCE POPULATION EXPOSURE TO TOXIC AGENTS

Measures include bans or strict controls on the use of toxic agents and programs to clean up
contaminated locations, including buildings in which asbestos is present and abandoned
industrial or military sites that are multiply contaminated.

 SCREENING AND COUNSELING PROGRAMS FOR THOSE WHO CARRY THE GENE FOR A
RARE DISEASE

High-risk couples may be advised about a range of options, including avoiding marriage to
another person who is a carrier for the same disease, using contraceptive methods to avoid
pregnancy, undergoing in vitro fertilization with embryonic screening, or obtaining prenatal
screening with the possibility of pregnancy termination or planning for the birth of an affected
child. (Tay-Sachs disease, thalassemia, cystic fibrosis, fragile X syndrome, and familial
dysautonomia)

SECONDARY PREVENTION STRATEGIES:

Newborn screening programs, which use biochemical or genetic blood tests, are prominent
examples. As described by the American College of Medical Genetics, the conditions fall in five
broad categories: organic acid metabolism disorders, fatty acid oxidation disorders, amino
acid metabolism disorders, hemoglobinopathies, and other disorders. It is important to
establish a diet program for these newborns before the onset of debilitating symptoms or
complications.