The Department of Health recommends the importance of newborn screening for the diagnosis of rare diseases

On the International Day of People with Rare Diseases, February 28, the State Department of Health (SES) draws the attention of the population to the importance of newborn screening in the early diagnosis and treatment of these diseases. Examination includes foot examination, eye test, heart test, and ear test. The heel prick test can detect several diseases, such as: phenylketonuria, congenital hypothyroidism, sickle cell anemia, cystic fibrosis, congenital adrenal hyperplasia and biotinidase deficiency, and recently it has been incorporated into the SUS, congenital toxoplasmosis screening.

Early and timely diagnosis and treatment starting as early as possible are essential to reduce mortality from these diseases and provide a better quality of life for users.
It should be combined between the third and fifth day of the baby’s life. It is mandatory by the Unified Health System (SUS) and must be performed for all newborns in primary care primary health-care units (UBS) in municipalities, which are the gateways to the state’s care network for individuals with rare diseases.
SES also advises municipal health directors and multidisciplinary teams on comprehensive care for people at risk or diagnosed with rare diseases, expanding services and encouraging diagnosis and treatment.
Families should also be aware of the importance of continuing to take their children to UBS for a series of routine appointments recommended by the Department of Health until they are two years old. From this age, routine appointments should be annual. It should be noted that children who require more attention should be monitored more frequently.

to draw public attention to world day for people with rare diseases, The lighting on the facade of the Piratini Palace remains projected in violets, blues, greens and pinks until February 28th.

Rare diseases

Rare diseases are determined by how few people are affected: 65 per 100,000 people. According to the World Health Organization (WHO), these diseases are characterized by a wide range of signs and symptoms, which differ from one disease to another, as well as from one person to another with the same condition. According to the Ministry of Health (MS), there are more than 7,000 described rare diseases, with 80% of genetic origin and 20% of infectious, viral or degenerative causes. In addition, 13 million Brazilians live with these diseases.

Congenital anomalies also have a direct impact on the healthy development of children, and also deserve special attention. According to the World Health Organization (WHO), it consists of changes in the structure or function of organs or parts of the body, which arise in intrauterine life and can be detected in the prenatal period, during or after childbirth. Its occurrence is associated with many causative factors of a chemical, physical and biological nature, or even a combination of these factors.

It is estimated that 295,000 newborns die annually as a result of congenital anomalies globally, and they already represent the second leading cause of infant mortality (WHO) in Brazil. Therefore, the earlier congenital anomalies are detected, the greater the possibilities for intervention. In Brazil, about 24,000 live births (less than 1% of all live births) are reported annually with congenital anomalies, based on data from the Live Birth Information System (Sinasc).

In Rio Grande do Sul, according to the State Center for Health Surveillance (CEVS), only congenital Zika virus syndrome is a mandatory notifiable disease. According to CEVS, congenital syndrome associated with Zika virus infection (SCZ) includes a group of congenital anomalies that may include visual, auditory, and neuromotor changes, which occur in individuals (fetuses or fetuses) exposed to Zika virus infection during pregnancy. These changes may vary in severity, and the earlier the infection occurs during pregnancy, the more severe these signs and symptoms will be.

More information on the Primary Care websiteYou can also support spreading awareness of people with rare diseases by posting on your social networks #rarediseaseday, after all, many of them are rare.