Rare diseases are on the rise, 95 percent have no cure


Lerato Khumalo

Rare diseases cover approximately 7 thousand diseases worldwide and these diseases affect 300 million people. Diagnosis of these health problems, which are generally of genetic origin, can take between 4 and 8 years. There are also associations in Turkey to raise awareness of those with rare diseases and to encourage individuals with the same disease to motivate each other. Answering Haberglobal’s questions about ‘Rare Diseases’ that we have heard about more frequently lately, such as cystic fibrosis, phenylketonuria and SMA disease, Orphan Drugs Application and Research Center Director and Pediatric Genetic Diseases Specialist Prof. Dr. Yasemin Alanay says that 30 percent of children die before they reach the age of 5 because there is no treatment for these diseases.

It is estimated that approximately 6-7 million people in our country have rare diseases.


Pointing out that genetic causes come first in rare diseases, Alanay said, “Only 20 percent of all diseases develop due to environmental or unknown causes. YThe fact that 80 percent of them are genetic increases the likelihood that children will encounter these diseases as a result of marriage between relatives. Unfortunately, consanguineous marriages are 21 percent in our country, meaning one in every five marriages is a consanguineous marriage. This high rate increases the frequency of rare diseases that occur due to the parents being carriers. As a result, genetically transmitted and recessively inherited diseases are more common in our country than in Europe and the USA,” he says.

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Diagnosis can take many years.


Specialist Dr. İrem Önlen also states that 95 percent of rare diseases have no treatment. “Each rare disease has its own characteristics. Due to this feature, special care and treatment methods, medications, consumables, special nutrients and medical devices are needed,” said Önlen. He lists some of the diseases as follows:

“Achondroplasia, ataxia, telangiectasia, SMA, albinism, cystic fibrosis, mucopolysaccharidosis, lysosomal storage diseases, Autoimmune Rheumatic Diseases, Cystinosis, Retinitis Pigmentosa, Pulmenary Hypertension, Scleroderma, Phenylketonuria, NCL Disease (Neuronal Ceroid Lipofuscinosis), Tay-Sachs, Sandoff Disease, Williams Syndrome, Duchenne Muscular Dystrophy (DMD) disease.”

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6-year-old Fatma Aydın, whose skin peels and scars even with the slightest touch due to butterfly disease, which has no definitive cure, cannot run and play like her peers.


On the other hand, rare diseases can follow a different course in different people and even in different members of the same family. In cases where treatment is possible but expensive drugs must be used because it is rare, families have difficulty accessing special care and treatment methods, medicines, consumables, special foods and medical devices. Rare disease drugs are called ‘orphan drugs’ because the research and development processes are quite long, difficult and costly. Unlicensed drugs, most of which are produced abroad, are delivered to patients only through the Turkish Pharmacists Association.


The highlights of the results of the ‘Rare Diseases in Turkey’ report prepared by the Association of Research-based Pharmaceutical Companies are as follows:

– Patients in Turkey are not authorized by the US Food and Drug Administration or the European Medicines Agency. It has access to 151 of the 416 medicines that have been granted orphan drug status.

-As of the end of 2021, 6 rare diseases have been included in the newborn screening program.

-Thanks to newborn screening studies, approximately 4,500 children are prevented annually from contracting existing diseases.