Rare diseases that are screened in newborn babies, such as cystic fibrosis, phenylketonuria and SMA disease, some of which we have heard about more frequently lately, cover approximately 7 thousand diseases all over the world, and these diseases affect 300 million people.
February 29, which we see on calendars every 4 years to draw attention to these diseases that affect the lives of many people, was chosen for Rare Diseases Awareness Day due to this feature. Thus, it is aimed to draw the attention of the society to rare diseases and inform them through various awareness activities on February 28 every year or on February 29 every 4 years. We received information regarding rare diseases from Pediatric Genetic Diseases Specialist Prof. Dr. Yasemin Alanay, Director of Rare Diseases and Orphan Drugs Application and Research Center (ACURARE) at Acıbadem University.
Diagnosed in childhood
Since 80 percent of rare diseases are caused by genetics, almost half of the patients are children. Since 95 percent of these diseases have no treatment, 30 percent of children die before they reach the age of 5. Stating that 50 percent of the patients were diagnosed in childhood, Pediatric Genetic Diseases Specialist Prof. Dr. Yasemin Alanay said, “In individuals with rare diseases, the diagnosis process sometimes takes years. In this process, patients may need to see many physicians from different branches, and since the diagnosis is made late in some patients, the chance of treatment disappears. Additionally, most rare diseases have no cure. For these reasons, unfortunately, 3 out of every 10 children born with a rare disease die before the age of five.” 35 percent of deaths in children under one year of age are caused by these rare diseases.
Consanguineous marriages increase these rare diseases with recessive inheritance
It is estimated that approximately 6-7 million people in our country have rare diseases. Without early diagnosis and treatment, many rare diseases can progress metabolically, chronically and even fatally. Pointing out that 80 percent of rare diseases are caused by genetic factors, Prof. Dr. Yasemin Alanay said, “Genetic causes come first in rare diseases. Only 20 percent of all diseases develop due to environmental or unknown causes. The fact that 80 percent of them are genetic increases the likelihood of children encountering these diseases as a result of marriage between relatives. Unfortunately, in our country, the rate of consanguineous marriage is 21 percent, that is, one in every 5 marriages is a consanguineous marriage. This high rate increases the frequency of rare diseases that occur due to parental carrier status. As a result, genetically inherited and recessively inherited diseases are more common in our country than in Europe and the USA.”
“Orphan Drug” is used in treatment
Rare diseases, which include more than 7 thousand 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 (TEB).
Rare Diseases Center and İSTisNA Platform were established
Since rare diseases are rare when considered individually, scientific data is scarce, studies are limited, and diagnosis and treatment methods are largely lacking. Prof. points out that, for this reason, in a significant portion of individuals with rare diseases, the causes of their diseases cannot be determined and diagnoses cannot be made. Dr. Yasemin Alanay emphasizes that individuals with rare diseases are subjected to many examinations within the healthcare system until they are diagnosed and even subjected to incorrect treatment practices, which is both a serious public health problem and a serious loss for the health economy. With the “Rare Diseases and Orphan Drugs Application and Research Center – ACURARE” established within Acıbadem University in 2017, we aim to improve diagnosis and treatment opportunities in the field of rare diseases and orphan drugs used in the treatment of these diseases, increase scientific and clinical research, increase the quality of life of patients and ensure their participation, Stating that they aim to develop existing resources and use them more efficiently, Prof. Dr. Yasemin Alanay continues her words as follows: “For this purpose, in 2022, supported by the Istanbul Development Agency (ISTKA), carried out by Acıbadem University and ACURARE, and in partnership with Istanbul University, “İstanbul Solution Platform for Undiagnosed and Rare Diseases – İSTisNA ” Project was designed. Biobank aims to establish a platform that can provide social support by incorporating activities that can shed light on diagnosis and treatment, such as translational research and undiagnosed diseases programs, and intensive training activities, awareness and dissemination activities. Platform; Ensuring health system organization for patients and patient associations, scientists, public institutions and the general society in the field of undiagnosed and rare diseases, increasing research activities in this field and bringing together stakeholders to carry out these activities, integration of national and international biobanks and training scientists in this field. aims to carry out studies on in addition, the aim is to determine the economic burden arising from the diagnosis, treatment and maintenance processes by selecting sample diseases to determine the economic burden of rare diseases in our country. In addition, it is planned to provide support for orphan drug studies in the medium term with the findings obtained from these studies and research.”
Pediatric Genetic Diseases Specialist Prof. Dr. Yasemin Alanay gives the following information about some rare diseases:
Her hair and eyelashes are white too!
Albinism: Our genetic characteristics that determine the color of our skin, eyebrows, eyelashes and eyes. Melanin pigments are what give color to the characteristics inherited from the parents. Melanin pigments do not form in albinism patients. Therefore, they are born with pure white skin, white eyelashes and eyebrows. The lack of melanin pigments makes them sensitive to sunlight, and if care is not taken, the risk of skin cancer increases.
A Syndrome with Many Symptoms
CHARGE Syndrome: A rare disease that presents with multiple symptoms such as coloboma, heart problems, closed posterior nostrils, growth and development retardation, genital organ anomalies, ear anomalies, and takes its name from the first letter of these symptoms. Mutations in the CHD7 gene usually occur for the first time and by chance. Many health problems that occur during infancy can be life-threatening.
nerve ending tumors
Neurofibromatosis: Different types of this disease, which is seen in approximately 1 in 3000 people worldwide, are observed at different severities and it is difficult to give an exact frequency. The most common manifestations of NF include skin spots, tumors, bone abnormalities, optic nerve glioma, neurofibromas, and other neurological symptoms. Diagnostic methods are based on clinical examination and genetic testing, but there is no known cure.
It’s life threatening!
Spinal muscularatrophy (SMA): The cause of the disease, which is severe enough to be life-threatening in infancy, is explained as the progressive loss of spinal cord anterior horn cells. There is no known treatment for this disease, whose main symptom is progressive muscle weakness and is seen in one in 10 thousand cases.
The severity of short stature decreases with Vosoritide treatment!
Achondroplasia: It causes disproportionate severe short stature, it is seen in one in 20 thousand. Hydrocephalus in infancy can cause sudden paralysis and even death. Frequent ear infections while growing up and physical difficulties caused by short stature affect the quality of life. Recently, bone lengthening has been achieved with drug treatment.
One of the most common genetic diseases
Cystic Fibrosis: It is among the most common hereditary diseases. It progresses with recurrent lung infections, diarrhea-malnutrition and pancreatic insufficiency. Although there is no definitive treatment yet, the patient can continue his life until adulthood with intensive supportive treatment.
They need to choose each bite carefully.
Phenylketonuria: A disease caused by the deficiency of the enzyme that enables the metabolism of the amino acid called phenylalanine . It is encountered in one in 4,500 people in our country. It requires lifelong diet and follow-up. If appropriate treatment is not applied, it can cause severe mental disability. Therefore, patients need to choose each bite carefully. With today’s medical techniques, prenatal diagnosis can be made.
