In recent days we have been hearing some news about calls rare diseases.
Why are they called like that? Because they are low incidence. There is less than one case every 2,000 inhabitants.
There are about 7,000 diseases, mostly genetic, affecting one and a half million Spanish children, according to the Spanish Federation of Rare Diseases (ERDF).
They can manifest at any age, but the majority (35%) die before reaching one year of life; 10%, between the first and fifth year; and 12% between 5 and 15 years.
Ignorance of the origin of the disease, confusion and disorientation at the time of diagnosis, in addition to social rejection, loss of self-esteem, isolation and lack of contact with other affected people are some of the symptoms suffered by the family and the patient. There is misinformation about care, treatments, doctors and specialists since there is no protocol to follow for these types of diseases or specific medications to treat them.
At birth or during childhood, diseases such as spinal amyotrophy (degeneration of spinal cord cells that cause paralysis) or achondroplasia (genetic disorder of bone growth) may occur, while at maturity side sclerosis or thyroid cancer.
Rare diseases usually cause disability, with a deficit at the sensory and intellectual level. Of the 7,000, only 2,000 have a specific treatment.
Honestly, very sad data. In addition, since rare diseases are very unprofitable for the pharmaceutical industry due to their low incidence, the necessary thing is not invested in developing new drugs.
From here we put our little grain of sand to spread rare diseases such as Angelman syndrome.
We know how important it is for the patient and parents to make an early diagnosis and avoid the anguish of going from doctor to doctor without knowing what your child has.
