«When I was little they called me “white sheet”, “capirra” and, since I was exposed to the sun a lot and had skin lesions, even “stinking sheet””, comments an octogenarian from Santiago who preferred to remain, for these letters, anonymous. .
She is oculocutaneous albino, with visual deficit and strabismus. She says that most of the time she wears dark glasses because of photophobia. «I was born in 1940 and I was the object of ridicule. “My mother, my six brothers and I were the family of albinos in an intricate place in the Sierra Maestra.”
It seems that for albino people, life, the one that comes only once and in which differences should not matter, is stigmatized for moments; some brief and others not so much.
Those who have this condition, in any of its four manifestations, are discriminated against for having skin, eyes, hair… “outside the norm.”
ALBINISMS, IN PLURAL
Albinism is a rare, non-contagious, hereditary and congenital disorder.
From a scientific perspective, Dr. Estela Morales, a specialist of I and II degrees at the National Center for Medical Genetics in Havana, argues that albinism includes a group of heterogeneous hereditary defects in which there is an absence of the pigment melanin, which is produced in cells called melanocytes.
“People who suffer from albinism have hypopigmentation of the eyes, skin and hair, and the best known form is oculocutaneous albinism.”
Among the genetic causes, it suggests changes or mutations in hereditary material. «In the case of the most common albinism, these mutations affect the synthesis of the enzyme tyrosinase that catalyzes the transformation of the amino acid tyrosine into melanin. That is what leads to the decrease in pigmentation that identifies it.
«The inheritance is autosomal recessive, which means that it occurs in women and men, and is not always transmitted. Those affected are children of healthy parents, but carriers of the disease, due to the fact that they are heterozygous, and they can have healthy siblings, regardless of sex,” she says.
Although people with this condition do not go unnoticed due to their appearance, in Cuba albinism is not so common. The figures point to one birth for every 19,000, stressed Dr. Mayta Brito, a specialist at the Specialized Dermatological Hospital.
Dr. Guillermo Fernández Hernández-Baquero.
Likewise, he points out that “albinos live with the condition of always protecting themselves from the sun’s rays, because, by not having melanin, they are the perfect target for malignant skin lesions from an early age. In addition, the disease causes visual disorders, therefore, these people have to wear glasses that have protection from ultraviolet rays.
LIVE WITHOUT STIGMATIZATION
When she was little she was laughed at for being very white. She comments that sometimes she felt like the strange one in the group, “the different one.” The specialists have given you very timely advice for these times, when ultraviolet radiation is greater, and more so in the hot land, Santiago de Cuba.
“My life is going on normally, with the necessary protection,” confesses Maribel Portales, a resident of the town of El Cristo, in the municipality of Santiago de Cuba.
Dr. Mayta Brito states that “no person with any type of disease should be rejected and albinism is no exception.”
For this reason, the specialist explains that albino patients require multidisciplinary care, mainly psychological help in childhood and adolescence, due to the teasing they usually receive.
Not in vain, in our country there are associations that provide quality assistance to people with this disease, and the Coral Skin, in Hero City, represents one of those national projects.
The first-year resident in Dermatology, Estrella Mora, is the main promoter in the southeastern territory, and states that at the Carlos J. Finlay polyclinic there are consultations with ophthalmologists, psychologists, dermatologists and other specialists. Regarding this, she emphasizes that “consultations operate on the first Friday of each month, and to date 81 patients have been treated.”
Reaching out to Dianelis Bicet is a reaffirmation of the help provided. She is the mother of a son with albinism, just one year old, and she says she has not missed any of the consultations: «My little Jairo Sebastián draws attention for his very white skin. His parents are black, and sometimes we have felt like the center of attention in the places we go. “The psychological help and vision and skin studies for our son have been very helpful.”
TOWARDS A BETTER QUALITY OF LIFE
Although there is no treatment for albinism, as it is a genetic disorder, Heberferon, a combination of alpha and beta gamma globulins, has encouraging effects when used for malignant skin lesions.
An example of this was the clinical trial carried out at the Dr. Juan Bruno Zayas Clinical Surgical Hospital, in Santiago de Cuba. According to Yaimaris Girón, project leader at the Center for Genetic Engineering and Biotechnology, it has had very good results in its execution in patients with skin carcinoma.
«At the hospital we care for people with albinism who, due to their exposure to the sun, have developed tumor lesions. The method used is intralesional, given its effectiveness, although it can also be injected perilesionally and subcutaneously,” highlighted the specialist.
He also specified that this combination “causes the death of malignant cells and is applied for three weeks, with nine doses of vaccines, and the results are evaluated at 16. If the response is not sufficient, another cycle is performed.”
However, albinism requires early diagnosis and, above all, awareness. Specialist Mayta Brito adds that education for family members of people with this condition is necessary, and “orienting, from an early age, the risk factors that they may face throughout life,” she points out.
For this reason, June 13, Albinism Awareness Day, seeks to make visible the challenges that these people encounter, in order to do more to increase their quality of life.
