Çocuk ve Medeniyet, cilt.7, sa.13, ss.29-65, 2022 (Hakemli Dergi)
Albinizm kavramının kökeni, latincede beyaz anlamına gelen,
‘albus’ kelimesidir. Özellikle cilt, saç ve gözlerde melanin sentezinin
bozulduğu heterojen bir grup genetik hastalığın klinik yansımasını tanımlamak
için kullanılan bir ifadedir. Toplumda en sık görülen formları, okulokutanöz
albinizm olarak bir grup hastalık altında toplanmıştır. Bu bireyler ve
çocuklar, cilt ve gözlerin güneş ışınlarına son derece hassas olması nedeniyle
(görme problemleri, göz renginin olağan dışı görünümü, retinal problemler, kırma
kusurları; beyaz cilt görünümü, güneş yanıkları, ikincil kanserler gibi)
çeşitli sağlık problemlerine açıktırlar. Tüm bu problemler cilt bakımları ve
uygun ekipmanlar ile en aza indirilebilmektedir ancak uygun sağlık bakımına,
periyodik kontrollere, ekipmanlara ulaşamayan bireyler kendilerini korumak
adına, kapalı alanlarda toplumdan izole bir hayat sürmek durumunda
kalmaktadırlar. Ayrıca görünüşleri, görme problemleri ve kapalı ortama zorunlu
olarak adapte olan hayat tarzları nedeniyle dışlanma, zorbalık, ayrımcılık gibi
problemlere açık hale gelmekte ve ciddi psikolojik, ekonomik, sosyolojik, tıbbi
veya hukuki problemlerle yüz yüze kalabilmektedirler.
Albinizm ile alakalı epidemiyolojik çalışmalar ülkemizde son
derece kısıtlıdır. Birleşmiş Milletler raporları, birçok ülkede zannedilenin
üzerinde bir albinizm sıklığı olabileceğini ve gerekli değerlendirmeler
yapılmadığından, birçok mediko-sosyal problemin ortaya çıkabileceğini ortaya
koymaktadır. Öte yandan mevzuatımızda albinizmli çocuklar, erişkinlerin aksine,
engelli olarak kabul edilmemiştir. Mevcut düzenlemelerde uluslararası sözleşme,
anayasa ve kanuna aykırı olabilecek aşırı ve orantısız kısıtlamalar
bulunmaktadır. Uygulamada ise mevzuatta verilen haklarla ilgili, albinizmli
bireylerin ve ilgili hekimlerin yeterince bilgilendirilmediği gözlemlenmiştir.
Bilgilendirme çalışmalarının hem bakanlık düzeyinde hem de dernek düzeyinde
arttırılması yerinde olur. Mevzuattaki aşırı kısıtlamaların yeniden
düzenlenmesinin yanında, ilgili hakların kullanım oranlarının takibinin
yapılması ve haklarını kullanmayan ailelere bu haklara ilişkin bildirim
yapılması gerekmektedir.
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.