Saudi Gazette report

JEDDAH — The Ministry of Health has stated that there are between 6,000 and 8,000 types of rare diseases, 80 percent of which are due to genetic causes. The ministry mentioned on its website that "rare diseases are caused by bacterial or viral infections, allergies and environmental causes, and 75 percent of them occur in children, and 30 percent of children die before the age of five. The disease is considered rare if it affects one in every 2,000 people. Many of these rare diseases are hereditary. They occur since birth. However, some genetic diseases occur at later developmental stages. Since these diseases are a heavy burden and affect communities immensely, rare diseases are a major concern for public health."

The awareness bulletin, as carried by Al-Watan daily, explained that "There are many types of rare diseases, including psychiatric, cardiovascular, chromosomal, skin, infections, endocrine, urinary tract and bone diseases," noting that some rare diseases have common names such as hemophilia and other diseases that have the name of the doctor that discovered it, or even attributed to the first patient who was diagnosed with it, or the first hospital where the disease was detected, such as Floating-Harbor syndrome.

"Many rare diseases have no cure, many of which have not even been studied in medical research so far," stated the bulletin.

The ministry said that "health problems suffered by people with rare diseases include difficulty to diagnose and cure, delayed diagnosis, lack of appropriate treatment in health institutions, lack of access to medical and scientific information, limited available treatment options, difficulty of accessing an experienced doctor or treatment center, high cost of treatment compared to common diseases, and the difficulty of obtaining medical, social, financial services or general assistance."

The ministry has put forward a number of proposals to support patients with rare disease, namely, implementing comprehensive programs for these diseases and developing appropriate public health policies while increasing international cooperation in the field of scientific research.