Rare or orphan diseases It is the name given to those diseases that affect less than 5 cases per 10,000 people. These ailments they usually have a genetic origin, often causing their diagnosis to not be quick.
In fact, on the planet it is believed that there can be a period of 10 years between the moment of the first symptom and the final diagnosis of a weird illness. For this reason, it is important to see a specialist at any suspicious sign.
Currently it is believed that there between 5,000 and 7,000 rare diseases and more than 80% of them are of genetic etiology. Among these diseases, the most frequent are hemophilia, Gaucher, Fabry and Pompe diseases.
How to achieve early diagnosis of a rare disease?
The opportune diagnosis and the beginning of early therapeutic interventions of the rare diseases It allows avoiding various complications and also allows the patient to cope with the condition in some way.
That’s why it’s important go to a specialist at any sign, for example if after several medical check-ups you still do not get a diagnosis. In this case, the ideal is to undergo a genetic test.
“Because Rare Diseases are not very prevalent, medical experience and scientific research is scarce. This means that the offer of comprehensive care is inadequate and there are many difficulties in accessing specialized diagnostic tests”, indicates Dr. Hugo Abarca, specialist in Genetics and attending physician of the staff of the National Institute of Children’s Health.
What rare diseases exist so far?
To learn more about rare diseases and find the right specialist in case you have one, here are some of the ones that exist.
- turner syndrome
- Pompe disease
- Hemophilia
- spina bifida
- Cystic fibrosis
- Histiocytosis
- Congenital hypothyroidism
- phenylketonuria
- Galactosemia
- Gaucher disease Type 1, 2 and 3
- Fabry’s disease
- Congenital Adrenal Hyperplasia
- Homocystinuria
Why is Rare Disease Day celebrated?
In the case of Peru, on June 4, 2011, Law No. 29698 was approved, which declares the treatment of people suffering from rare or orphan diseases to be of national interest and priority attention.
Subsequently, on July 22, 2011, the country’s Ministry of Health (Minsa) issued Ministerial Resolution No. 579-2011/MINSA which establishes that the last day of February (28/29) of each year is remembered as “National Day of Rare or Orphan Diseases”.
What measures does Peru take to help people with a rare disease?
Currently, the Comprehensive Health Insurance (SIS) under the Ministry of Health cares for nearly 80,000 Peruvians with rare diseases, but they do not have innovative treatments. Therefore, access is still very limited.
Finally, according to María Elena Almendáriz, executive director of the Peruvian Federation for Rare Diseases (FEPER), 42% of the population diagnosed with a disease considered rare lives in the provinces, this being the most neglected population. For this reason, close to 70% of people from the provinces are forced to travel to Lima to carry out a discard, control or recurrent treatment.
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