Introduction

The origin of albinism concept originated from the word ‘albus’, which means white in antique Latin. It is an expression used to describe the clinical reflection of a heterogeneous group of genetic diseases in which melanin synthesis is impaired with the total lack or reduction of melanin of melanocytes primarily in the skin, hair, and eyes. The total prevalence rate of albinism has not been well estimated in Turkey, however, albinism possibly affects around 1:15.000 and 1:20.000 people worldwide. Furthermore, as the country’s population grows, the prevalence rate of albinism may rise in different parts of the country. Albinism is still profoundly misunderstood, socially, economically, and medically. People with albinism face multiple forms of discrimination or problems worldwide therefore, it is very important to understand the fundamentals of social, and medical characteristics of albinism.

Children with albinism are vulnerable to various health problems, such as, vision problems, the unusual appearance of eye color, retinal problems, refractive errors, white skin appearance, sunburns, and secondary cancers since the skin and eyes are extremely sensitive to sunlight. Also, these children face a variety of psychosocial problems, the most common of which are social discrimination, financial constraints, a lack of community support leading to stigma and prejudice, and superstitious beliefs. Some health problems can be minimized with skincare and appropriate equipment, however, individuals who cannot access appropriate health care, social support, and proper legal support; must lead a life in isolation to protect themselves from sunlight that general people enjoy daily.

Visual difference of children with albinism is often leads inaccurate and harmful beliefs about the disease. Kidnapping, abductions, threats, killings, physical or sexual attacks, possession of body parts, and exhumation of the graves of people with albinism, especially in Africa, are well known. Also, they are open to problems such as exclusion, bullying, and discrimination and may face serious psychological, economic, sociological, medical, or legal problems. Children with albinism, who cannot receive adequate health care services, naturally begin to be excluded, fall behind in education, and cannot participate in social life. They cannot integrate into the economic system and social life; thus, it can become a vicious circle. In addition, low vision functions, car driving limitations, and economic inadequacies make it difficult for them to access adequate health care, and as a result, they face many economic, social, and psychological problems. This paper focuses on the problems experienced by children with albinism based on the triangle relation of medical problems, psychosocial limitations, and legal inadequacies and offers possible solutions and recommendations.

Social, Economic, and Clinic Problems

Apart from the rare syndromic variants, the symptomatology seen in children with albinism is mostly problems related to melanin synthesis. In general, skin pigmentation is highly variable among children and is determined by many factors, including the melanocyte number and metabolic activity of the epidermis, and variations in the melanogenic activity, number, size, and distribution of melanosomes in these melanocytes. Differences in melanin types also depend on the degree of branching of the dendritic ridges of melanocytes and the ability of melanosomes to migrate from these ridges to keratinocytes, which is indirectly associated with cancerization. People with albinism have skin that is quite sensitive to UV light, DNA breaks, and sun exposure. UV light is one of the most serious complications associated with albinism because it can increase the risk of developing both skin cancer and extreme sunburns or related damage causing the thickening of the skin. These children may also experience many ophthalmic problems such as vision problems, strabismus, nystagmus (rapid eye movements), or photophobia (light sensitivity).

Barriers to education, stigma and discrimination, attitude, a lack of awareness about albinism, economic constraints, proper health care limitations, and school problems such as bullying arose as challenges faced by children with albinism. Generally, due to economic and physical limitations, individuals with albinism cannot receive quality healthcare services starting from early childhood. Due to their inability to provide sunscreen and proper skin care, they generally avoid open environments and restrict themselves indoors. In addition, due to the inability to provide glasses, lenses, hand-held/stand magnifiers, microscopes, and instruments necessary for vision, they have difficulty participating in peer childhood plays, and their school success is significantly affected. As a result, they must face both psychological problems and become more open to economic & social problems in the future life. Eventually, they are more prone to increased lifetime cancer risk, social isolation, psychological problems, social problems, economic limitations; vision problems related to insufficient education, inaccessibility to health services, and susceptibility to accidents with many other comorbidities.

Treatment & Intervention Options

People with albinism have an increased risk of developing skin cancer. To protect their skin, they should wear closed, cover up with clothing, a hat, and broad-spectrum sunscreen with at least 30 (50 in summer) sun protection factor and reapply every 2 hours. They should stay in the shade as much as possible. They need to check their skin for changes or suspicious marks by themselves. In addition, a visit to a dermatologist every 6–12 months for a skin check is a must. Yet, due to care products, dermatology exams, and sunscreens being relatively expensive, families with low socioeconomic status cannot access these care products. Children with albinism should also receive an annual eye exam by an ophthalmologist and wear prescripted corrective lenses, and other proper instruments for reading, learning, and school life. Surgery is rarely part of treatment for eye problems related to albinism, besides the minimized nystagmus. Children living in isolation should be monitored for developmental delays and followed up by developmental pediatricians or specialists. In rural or country areas, it is extremely difficult for them to access a high quality ophthalmologic or developmental pediatric service because of economics and limited transportation facilities. Additionally, older individuals should be subjected to psychometric monitoring. The long-term well-being of these children needs to provide periodic health follow-ups, perform cancer and psychometric screening, eliminate vision problems, and access to necessary medical support. Possible physical and social problems in education life should be prevented due to albinism-related vision problems and their appearance. However, since it is known that these patients’ access to health services is limited for various reasons, thus it is essential that they receive social worker and professional support services to be guided correctly and should be screened for preventive medicine.

Teachers, counselors, and school staff should be trained in the regard of proper support for children with albinism. Children should be protected from bullying or discrimination and should be encouraged & included in peer games, sports, and cultural activities. In addition, they should be seated in a suitable place in the classroom. Their positions should be standardized in terms of light reflections, supported by digital equipment, should be supported with organized exam environments (with timing, private reader, etc.), and positive reinforcements should be made by the teachers. In addition, they need lifetime educational opportunities, increased indoor job opportunities, and economic or health-care support for sunscreens and visual instruments, with the social workers and government policies.

Legal Problems

Existing legal regulations provide some protections for individuals with albinism. However, there are some deficiencies and problems in these regulations. When the current legislation is examined, it is stated that adults with albinism can have a %20 disability ratio, but there is no such regulation for children. The special needs report for children with albinism with visual impairment can be provided by the ‘Regulation on Special Needs Assessment for Children’. Individuals with albinism are exempt from compulsory military service. This is because albinism is listed among the diseases that do not qualify for military service. With the ‘Health Implementation Rescript, sunscreen support has been introduced for individuals with albinism since the beginning of 2022. However, the fixed amount was insufficient in the face of inflation and different usage rates for different regions were not taken into account. In addition, considering the difficulty of going to hospital for re-prescription, the requirement of a prescription every three months was found inappropriate. In the same Rescript, telescopic glasses were provided to individuals with albinism.

The general provisions of the Turkish Criminal Code will be applied for insults against individuals with albinism. On the other hand, it is recommended by the United Nations Committee on the Rights of Persons with Disabilities to remove the element of ‘hate’ in Article 122 of the Turkish Penal Code for discrimination. In addition, the “Law on Human Rights and Equality Institution of Turkey” will allow administrative fines to be imposed on those who discriminate.

Turkey is a party to the UN Convention on the Rights of Persons with Disabilities and its Additional Protocol. This convention, which is directly applicable as per Article 90 of the Turkish Constitution, imposes certain responsibilities on the state. In particular, supporting children with albinism with physical facilities can solve their economic and social problems as well as their problems in education. In this respect, the problems faced by children with albinism should be identified and these problems should be solved with the principle of social state and the best interest of the child. However, more important than all these rights recognized in the legislation is to inform children with albinism and their primary caregivers. Because the exercise of these rights is more important than their existence. In this respect, it would be appropriate for the ministry and the association to prepare guidelines for individuals with albinism regarding their legal rights.

Recommendations

1. People with albinism are sometimes called albinos. “A person with albinism” is the preferred term.

2. Urgent epidemiological studies are needed to determine the frequency and status of albinism cases throughout the countries. Facilitated and intermittent examination programs should be provided for their access to health services, skin, and eye examinations should be provided for all individuals, developmental pediatrics or child psychiatry controls should be provided for children, and privileges such as social support, transport, and hostess/social worker service in hospitals should be provided.

3. The education of the people who provide transportation to and from the school should also prevent these children from a potential accident, fall, non-vehicle traffic accident, etc. They need to survive and repetitive training and controls should be provided.

4. Educators’ awareness of the situation of these children will both improve their education individually, increase their quality of life in their later life, and increase their self-confidence by including them in children’s play activities or indoor sports programs by reducing their exposure to situations such as exclusion, humiliation, mockery, and bullying that may occur at school age. Certainly, these children should receive customized support in national education, their teachers and school directors should be specially educated.

5. Children & adults with albinism should be supported socially and economically, and indoor job opportunities should be provided with crafts or occupations with regional or central organizations, and those who do not have the opportunity should be supported economically so that they can access the relevant services and health care instruments/skin creams. Individuals should be supported for vocational acquisition and education processes that can be substituted in closed areas.

6. Legally, restrictions that are not in the law and higher hierarchy should be removed from the regulation and notification level. UV-protected creams, which are the basic needs of individuals with albinism, must be met by considering various possibilities. In addition, it is necessary to prevent the restriction of eyeglasses needs, which are not met despite being included in the Communiqué on the Application in Medicine, with the SGK application.

7. Children with albinism should be considered disabled due to their conditions preventing them from participating in daily activities or social life. Disability is defined as an umbrella concept by the World Health Organization and it encompasses impairments, activity limitations, and participation limits, whether albinism can be classified as a disability is debatable. Individuals, particularly those with ocular albinism who work without any social or medical assistance, do not recognize or adopt a disability mark. While individuals with albinism over the age of 18 are in the disabled status, it is not appropriate for minors without a certain level of visual impairment to be disabled. Individuals with albinism should be considered as disabled regardless of age.

8. The legal legislation on the disabled is very scattered and it would be appropriate for them to be enacted systematically. In addition, there is a need for the ministry of health and association guidelines (dermatology, pediatrics, and ophthalmology) to prepare health care providers and made them flexible by considering geographical regions.

9. Considering the risk of getting involved in accidents because individuals with albinism cannot see far in the external environment, and the risk of catching skin diseases due to sunlight, the legislation should allow more appropriate support for their needs instead of frequent hospital visits. In particular, the regulation that sunscreen can be reported for a period of 3 months should be revised and extended. Since there are serious visual impairments and sun or care creams need to be supplied continuously, direct supply should be provided.

10. It has been determined that the number of studies on disability law in our country is very limited (Çitil, Third, 2018). In this context, this branch of legal regulations should be developed and higher education studies in this field should be supported by opportunities such as TUBITAK scholarships.