But school or a normal, carefree life are impossible for Melek as most of her body is covered with sores and blisters. Even at night she wakes every few hours trying to get comfortable, trying not to scratch or irritate her fragile skin. Melek is undernourished, her complexion sallow. When she was six or seven years old, her fingers started to mesh together. Without specialized care, her hands have become stumps -- a condition known as “mitten hand.” She can’t do fun things like climbing trees or splashing in pools. Children with the disease have skin as delicate and ethereal as phyllo pastry and the term “butterfly wings” is frequently used to describe the condition.
Given better and knowledgeable care, Melek should be cocooned in bandages and her wounds kept clean and moist. Many EB sufferers whose hands are meticulously wrapped can minimize or avert the webbing of fingers.
Melek’s younger sister has the same (recessive) type of EB. Caring for both girls is a fulltime job which puts a huge strain on this rural family.
What is EB?
EB is a genetic disease characterized by skin so brittle that the slightest touch causes blisters to form. These are slow to heal and easily become infected. Imagine not being able to pick up your baby, cuddle him or her or allow daily play sessions with other children. Or being unable to hug an adult loved one. Blisters can develop internally as well, compounding pain and constantly challenging the rest of the body’s defenses.
There are many different types and subtypes of EB, often differentiated by whether blistering occurs on the outer (epidermal) layer of skin, which is less serious, or on the basement membrane (dermal) layer, a more serious and even life threatening condition. Worldwide about 500,000 people suffer from EB in its various forms.
What causes the skin to be so delicate is an abnormal gene that controls the production of the protein collagen. It is somewhat like a “dropped stitch” in knitting or a genetic spelling mistake. The collagen acts like a glue holding the skin layers together and stabilizing them. Without it, skin layers separate and fluid fills the void, producing a blister. It can occur in all ethnic and racial groups and affects males and females equally and randomly. It is not related to isolated communities who intermarry. Both males and females can pass on the defective gene or either can be a carrier passing it down to a subsequent generation. Elusively, EB can also occur at conception, even though neither parent has the defective gene.
As no cure exists at present, much hope rests on research and genetic counseling. One recent breakthrough in Italy has used gene therapy to “grow” corrected skin patches that are then grafted onto blistered areas. This has been used for only one type of EB in one patient.
One Turkish family I interviewed had four children, two with recessive dystrophic epidermolysis bullosa. On the maternal side of the family, another child had previously been born with EB. Genetic counseling was not included in prenatal care. The two sisters were born in central Anatolia and diagnosed at birth with the most serious (recessive) strain of the disease. They were examined by pediatricians, had a long-term hospital assessment and specialists and general practitioners often administer injections, creams and medication. What is lacking is day-to-day support and information about treating chronic wounds. Moral support is hugely important.
Seeing one doctor is not sufficient. Great Ormand Street Hospital for children in London has a specialized EB unit where dermatologists, dieticians, urologists, endocrinologists, dentists, heart specialists, pediatricians, psychologists and ophthalmologists, even plastic surgeons and cancer specialists, converge to coordinate their skills. A multidisciplinary approach to pain relief, healing and dressing wounds is the lifeline in relieving discomfort for EB patients, at least until a cure is found.
In Cincinnati, Ohio, a specialist unit for children with EB is a leader in interdisciplinary care. The Cincinnati Children’s Hospital Medical Center has an integrated care program that unites patients with all types of EB, caregivers and medical consultants. (www.cincinnatichildrens.org/svc/alpha/e/epidermolysis-bullosa). They have a valuable translation service, mostly for Spanish speakers. Having information in Turkish about managing the disease would be a breakthrough, if not a turning point, for all Turkish sufferers.
An American EB action network (www.ebanusa.org) has submitted a Wound Care Bill to Congress asking for the costs of specialized bandages to be included in Medicare and insurance schemes. These run at $1,500 to $2,000 per month and bandaging wounds is the key to healing and reducing infection for all EB patients.
Today’s Zaman spoke with patients in İzmir where about 30 children and adults suffer from a range of EB varieties, from chronic to mild. İlter Bıyık has created a blog (epidermolysisbullosa.blogcu.com/) and an EB register, a valuable start for understanding the disease better and providing support and a base for research. Bıyık, a philosophy teacher, emphasized the need to have Turkish translations of the many brochures, PDF downloads and information available about EB. His dream would be to have a branch of the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) in Turkey.
Children with EB suffer a double disadvantage because cures are almost exclusively researched from a genetic perspective and clinical trials are usually carried out on adult volunteers, not children.
The effects of the disease compound themselves in alarming and excruciating ways. Wounds and lesions need extra sustenance to heal effectively, but EB patients lack protein in their diet because eating or drinking are unpleasant experiences. In extreme cases, patients are fed intravenously if the mouth or trachea becomes blistered. Teeth, hair, nails and general health suffer without an adequate diet and extra vitamins and minerals. The EB patients interviewed were undernourished and one was emaciated with low-level mental and physical energy. Many patients become anemic.
Local doctors treating patients with EB look at the disease from the clinical point of view of skin diseases, pediatric complaints or from a genetic perspective. Turkish patients, so far, do not benefit from an integrated, multidisciplinary approach to the disease.
Costs for developing drugs for rare genetic diseases are high and the profit margin is usually low. It is distressing, but generally true, that the rarer the disease, the less information there is about it and little research is being done on it. But a new initiative involving pharmaceutical companies, academic and public institutions, the European Rare Diseases Therapeutic Initiative (http://www.erditi.org <http://www.erditi.org), is helping to fund treatments and eventually develop new drugs for obscure diseases. Additionally the European Organization for Rare Diseases (http://www.eurordis.org) includes EB as one of its target diseases.
EB may be a rare disease, have no cure on the immediate horizon and very little information in Turkish. But this is a reason to dig deeper for facts, not remain silent or in the rear guard. “Skin deep” has a poignant meaning for EB sufferers but positive action can help sufferers like Melek extend her life to one beyond constant pain.
*Names have been changed.
[INFO BOX]
Rare diseases facts:
According to the European Organization for Rare Diseases,
Rare diseases affect over 20 million people in Europe
Rare diseases are serious, chronic, progressive disorders, and often life threatening
About 80 percent of rare diseases are of genetic origin
Three out of four rare diseases affect children and result in severe disabilities
Kaş action group
In Kaş a charity group, The Busy Bees (Çalışkan Arıları), has provided funds for hospital care and the purchase of an air conditioner for two local children with EB. They have provided homeopathic creams and oils to help wound care. They would like to create a support network to integrate the family into a nationwide self-help program and to help them access documents translated from English to Turkish.
About debra
The United Kingdom branch of DEBRA (Dystrophic Epidermolysis Bullosa Research Association) was formed in 1976 by a group of parents whose children had EB. It is committed to the support and care of families affected with this disorder. DEBRA also funds research and specialist pediatric and adult clinical nurse specialists, who provide direct links to families and children throughout the UK.
Outreach retrieval and care for neonates in the United Kingdom
Diagnostic service with samples taken and delivered directly to St. Thomas’ Hospital
Regular multidisciplinary reviews of patients
Medical and nursing care advice
Transitional care for adolescents and young adults
Genetic counseling
Close liaison with local professionals
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