In The Shadow of Virtual Absence of Health Care ‘Butterfly Children’ Living with their flayed skin

Um Samir Cannot forget the terror she felt when she saw her son, merely 8 years old, fall off his bicycle when his skin was flayed ‘simply as if a glove coming off a hand’ she describes. Despite knowing the nature of her son’s disease ‘Epidermolysis Bullosa Acquisita’, which he has suffered from since his birth. It was the doctors’ and one public hospital’s refusal of treatment due to lack of knowledge and ways to treat this disease, that doubled her feelings of shock and pain, which ultimately led her to go back home empowered by an unknown source as she says, and managed to restore her son’s flayed skin after sanitizing it.

‘Epidermolysis Bullosa Acquisita’ is a rare genetic disease that inflicts blisters or water bubbles in skin layers, and causes severe itching that leads to skin lacerations or molting. In some cases, the blisters might be internal which damages the body’s internal organs. It is estimated that around 50 in every one million people are affected by this disease around the world [Wikipedia].

Victims of Epidermolysis Bullosa (also known as Butterfly Children as newborn victims’ skin is as fragile as butterfly wings) suffer from several issues starting from birth and before discovery of the disease, which requires testing before diagnosis. Most affected children suffer painful and dangerous wounds due to medical mistakes, which comes from the lack of medical expertise in handling the disease. When we reached out to a few dermatologists to discuss the disease many of them asked for its name in English, as they have not heard about it in Arabic before, and have no information regarding it nor have they encountered any patients suffering from it.

Rare Genetic Disease

Dr.Nour Al Ma’ani, Dermatologist in the Jordanian University Hospital, explains the nature of this rare disease. Saying that it is caused by a defect in some of the skin’s components that bond it together. The skin is naturally made from an external layer (epidermis) and another layer below it (dermis), with the two layers meeting at a point called the basilar membrane. With the different types of Epidermolysis Bullosa being largely determined by the layer of skin where the blisters are formed, as some might form in the external layer while others in the deeper one.

She adds, “The skin’s fragility leads to the formation of bubbles that are caused by friction, and in some cases pressure on the skin tears these bubbles open. The disease appears more frequently in areas where close family intermarriages are incest is marriages between brother and sisters common. The affected gene can be transmitted by one of the parents (autosomal dominant inheritance), or from both parents (autosomal recessive inheritance), or it can develop as a new genetic mutation in the victim. Symptoms of this he disease does not appear before birth as the fetus is usually protected from shocks inside the womb. The disease is usually discovered either at birth or during the following days or weeks when bubbles or blisters form on the skin, and in some cases the disease manifests at an older age.”

Um Samir is married to her cousin and has three sons, two of them are suffering from the disease. Due to the hardships she is enduring with her two sons, she has decided not to have any more children, in fear that they might be born with the disease as well.

Rawan is also a mother of a child suffering from the disease. She resorted to the internet to gather information, and determine ways to handle her child’s illness, and started treating him herself. She made contact with Um Samir through a group on social media, and compared their experiences. She says, “When I gave birth to my child, as soon as the doctors held him his foot was injured. And after a few tests it was determined that the newborn was suffering from this rare disease.”

No Statistics, No Studies

Dr. Adel Al Shawabke, head of dermatology at the ministry of health, says that the ministry deals with Epidermolysis Bullosa, which is caused by a genetic defect, as it does with any other disease. Since there isn’t a known cure for the disease, the patient is given creams and anti-inflammatory medicine. He also clarifies that doctors don’t have any special guidelines to help instruct patient’s parents how to better care for their children; and confirms the absence of statistics at the ministry regarding the number of people suffering from this disease.

The Association of Private Hospitals in Jordan also confirms, through its president Dr.Fawzi Al Hammouri, the absence of any sectors in private hospitals capable of treating patients suffering from Epidermolysis Bullosa, and those hospitals also don’t keep any data regarding patients suffering from this disease.

According to Dr.Al Ma’ani, some children are born with flayed skin caused by the friction of feet rubbing together, while others’ skin is torn off due to medical bandages. Which is what happened to Um Samir’s son after a medical operation on his esophagus. The doctor goes on to say that some minor cases cause small bubbles due to friction, while others form bigger bubbles that might occur internally in the intestines and might cause internal bleeding; and finally there might be extreme cases where the Epidermolysis is permanent which might sometimes cause cancer.

In Jordan, until this day, there have not been any medical studies or experiments using stem cells to treat Epidermolysis Bullosa, confirms Dr.Mohammed Al Tarawineh, acting head of the physicians syndicate. He says highlights brings attention to the fact that our investigation is the first to shed light on the ‘Butterfly Children’ and their suffering, and shows interest in cooperating in the creation of an association dedicated to their issue after getting permission from the Ministry of Health.

Um Samir painfully recounts, “After my son’s operation on his esophagus, I could not recognize him. The doctors fixed the tube connected to his mouth with medical tape, and when they tried to remove it, the skin on his face completely went off and his features disappeared”. As for Rawan, she says, “My son remained in prematurity for a month, and the gauze on his stomach was fixed with medical tape! When I went to take him from the hospital there was medical tape on his head, and when the nurse tried to remove it his scalp came off along with hair follicles and some of the skin off his face. When I asked the doctor about how much his disease affects his movement, speech, or even his mind, he replied that he did not know!”

She goes on to say, “When the water bubbles formed on his body the doctors asked to cover them with medical gauze, but it was clear afterwards that the bubbles needed to be removed and not covered. Moreover, when his anal region was injured the doctors refused to operate on it due to its sensitivity, so I decided to treat it myself at home. One day his fingers fused together and the doctors refused to treat them, which forced me to cut the fused skin by myself and treat for months until his hand almost went back to its normal shape.

Specialized Clinic Needed

Patients suffering Epidermolysis Bullosa require a special kind of clothing made of thin fabric that does not cause injuries or molting. The patient might suffer from injuries around the mouth, esophagus, and anal areas. In some cases these injuries can cause scars and cysts that affect the patient’s movement, according to the American scientific research association ‘Debra’ .

Dr.Al Ma’ani clarifies, “Patients require an inclusive treatment by a cadre of specialists including Dermatologists, Gastroenterologists – especially for those suffering from esophagus contractions, cosmetic experts, in addition to natural treatments. However, no cure for the disease currently exists, as the treatments available are merely preventative aiming to ease the burden on the skin and its dissolution, and are overall quite expensive”. She goes on to note that patients in Jordan are in need of a specialized clinic that saves them the effort of going to several clinics, not to mention that such a clinic will provide a suitable environment to conduct studies around the disease, and will increase doctors’ experience in dealing with it”.