The disease is associated with many other health problems. I have wounds not only from the outside, but also from the inside. I have a special diet, my mom has to mash everything because I have difficulty swallowing, I can't swallow hard and big pieces of food. If a piece of food gets into the wrong tube, it is quite painful and it can cause even bigger swallowing problems that I already have. My diet is very limited, because not everything can be mixed or prepared in a suitable way, e.g. fried meat, cheese, sausage and much more. I cannot eat what cannot be masheds, so I can only dream about eating some types of food. I go for regular osteoporosis checks as my bones are fragile because of my disease. My teeth fell out when I was 10-12 years old. Doctors frequently check my blood as I lose lots and lots of blood (hemoglobin as well) through my wounds. That is why I have to go to the hospital frequentlyto undergo intravenous infusion therapy for which I have to pay. I also regularly go to the ophthalmologist because I have very dry eyes. I have to pay for eye drops and various eye medicines out of my own pocketbecause they are not on the prescription. Without eye drops my eyes would get infected, causing me great pain and effectively blinding me for 3-4 days.

My mom stayed with me at home since my birthbecause I can't cook, I can't open a bottle or a can, I can't carry even 2kg of weight because I weigh only 38 kilos at my height of 180cm. Mum is my right hand – she prepares my food, bathes me and helps me with everything I can't handle myself. I am very grateful to her!

My father is my “official driver”, as I cannot use ambulance to get to the doctor’s due to various germs left in the car by other patients. So instead of free ambulance ride, we have to buy petrol. My muscles are weakened, I can walk max. 20 meters as I get tired easily, my heart rate elevates to 120 per minute, my blood pressure increases, my legs hurt and I have to drink immediately so that I don't faint. 

I have been on disability pension since I was 18, as I cannot do any type of work. That means I spend a lot of time at home. I spend sometimes 14 hours a day at the computer with little breaks. I usually chat with my friends to stay in touch with the outside world and other people. My mom is home with me all day, nursing me. Every day in the morning and in the evening she changes all of my bandages. Sometimes she has to change bandages also during the day, as needed. Morning bandages hardly ever last until evening, as it is necessary to put moisturizers here and there. In the morning after breakfast we dress wounds with herbal infusions. My condition has gotten a little worse over the last three years, doctors couldn't tell us anything specific about it, just pushed ATBs. That is when we decided to take matters into our own hands.We started treating my wounds by ourselves and my condition improved a bit. I have better and worse days, I cannot really choose.

Every year we go for a 7-8 days-long recovery trip to Biograd na Moru, Croatia, paid for by money we saved. I can't go into the sea water because my wounds are open and they would hurt me a lot, but that change of environment and the air helps me a lot. Last year my mom was very afraid to leave for Croatia with me because ofmy worsening condition, but I managed to persuade her. Believe it or not, during my time in Croatia I felt great, however, when we came back, my condition deteriorated once again. I don't know what the cause may be, but I know that being there helps me a lot. 

I spend my days at the PC, I enjoy electronics (PCs, mobiles, new technologies and everything about it, I like soldering and making various things), watching movies or playing games. I like racing and action games the most, like Sniper Elite 3-4, GTA, Call of Duty.

In addition to the PC I devote a lot of my time to my little love - Yorkshire Terrier called Linda. I got her on December 1 from my friend - a former classmate. It was a really beautiful gift from her, Linda makes me very happy and keeps me company during some of my darkest days. In the afternoon around 4 PM we change bandages again. After that I have dinner and then I chat with friends or play with my little love Linda or watch the movie on PC (I do not have a TV). I go to bed at 9 PM. At that time my mother takes care of my night routine. I am a communicative type, I like to meet new people, especially those with whom I can easily talk about anything as I hate mundane conversations.

My favorite time is summer when I can sit outside in the yard and listen to birds, watch the clouds and watch them change shapes. Although winters are harsh, I love Christmas - the atmosphere, the smell, the magic of Christmas, it's really beautiful. My mother and I decorate the Christmas tree on the first Sunday of the Advent season.  From mid-November I watch Christmas movies and listen to Christmas music. Starting in October I count down the days until Christmas, I feel like a Christmas elf :-) After Christmas, I look forward to the summer as I can enjoy fresh air with Linda. Every season has its charm, though.

In order to move on my own, I needed an electric wheelchair, which, unfortunately, was not granted to me by the insurance company. But there are good people in the world who helped me with money so I could buy the wheelchair. Thank you very much for that! In the past, my mother was pushing me on a mechanical wheelchair, but since 2009 she has had big problems with spine and I did not want to burden her even more so I rather stayed at home or went only to the yard. 

My current PC is about 6 years old and you, great people, helped me to buy a new one for which I am eternally grateful!

That sums up my hard life. I'm glad that I was able to make it this far. It would not be possible without my parents who have been taking care of me for 32 years.

I save all financial gifts from you and only buy medicines, vitamins and pay for medical care.

I thank you all who decided to support me in any way, I truly and deeply appreciate it.

 

 

People with Epidermolysis Bullosa are extremely humble, social and energetic. They engage in social activities as other healthy people since school age. They like company of other people, meet new people and make relationships. They can marry and have children.

Caution due to risk of injury

A person with Epidermolysis Bullosa has to pay attention to literally everything. Even a small abrasion will cause a painful injury. Therefore, these people have to wear right shoes and dress to prevent injuries. Particular care should be taken when coming into contact with hard surfaces and friction. Even routine work such as using a towel, sitting, touching objects can be a source of pain.

In small children, crawling and touching toys can cause injury.

Bandages and soft surfaces

When lying and sitting, person suffering from the disease should come into contact only with soft surfaces. Anti-decubitus mattresses and mats are used. Patients are preventively bandaged on most of the body..

Regular care

For children and parents, the treatment is physically and mentally demanding as it takes 2-3 hours per day.

Weakened immunity

The body is naturally weakened, susceptible to infections and diseases. At the same time, the wound healing ability and the high susceptibility to infections are major obstacles.

Food

Patients usually have no choice but to eat mixed meals. Solid food causes pain and problems with swallowing. Consumption of unsuitable foods may result in dehydration of the body. Mixed meals often fails to contain the optimal number of nutrients, causing other health problems (malnutrition, anemia, etc).

Need of assistance

People suffering from this skin disease require constant care regardless of whether they are a child or an adult. Professional personal care is a necessity, which is expensive for families.

Restricted movement

As the disease affects various parts of muscle, movement is significantly impeded. Usually the use of a wheelchair is essential.

Discrimination in society

Not everyone has an understanding for people with Epidermolysis Bullosa. There is often a belief that a child suffering from such disease is physically abused. However, the opposite is true. Parents must provide extraordinary care to children, and that is usually mentally demanding.

Possibilities for spending leisure time for a person suffering from the diseaseare also limited as they cannot visit pools, for example, because of the erroneous view that Epidermolysis Bullosa is a contagious disease.

 

Epidermolysis bullosa

Epidermolysis bullosa is a skin disease, sometimes called butterfly wings disease. Typical manifestations of the disease are blisters, very vulnerable skin, internal organs and body parts. The skin is susceptible to damage even by gentle contact, pressure or friction, the skin layer breaks and open wounds occur. The cause of high sensitivity is the lack of certain proteins in the skin.

In addition to the skin, mucous membranes, organs and body parts are also weakened. Many patients experience hair, teeth and nail loss. Oral cavity, respiratory system, urogenital, digestive system are also affected.

Some types of Epidermolysis bullosa are associated with shortening of muscles, muscular dystrophy, mutation of the fingers of the upper and lower limbs due to ingrowing fingers.

Many people with this skin disease have limited ability to move, so they are dependent on a wheelchair.

Rare disease with rare occurrence

Epidermolysis bullosa is a very rare skin disease. It occurs only in 1-5 people per 100,000 inhabitants with the same probability for men and women.

How does the disease develop and what are the causes?

The disease is not only inherited from parents asit can also occur in children of healthy parents by accidental mutation of genes.

Hereditary disease

The disease is hereditary if at least one parent has the defective gene.

Accidental disease

The disease also occurs accidentally without the parents having the wrong genes. Mutation of genes may occur spontaneously.

Symptoms

Epidermolysis bullosa is manifested individually in each patient. It occurs already in newborns or manifests in adolescence when body experiences higher physical load.

In addition to skin injuries, there are blisters in the mouth and larynx, difficulty when swallowing, biting and eating. Erosions and blisters can occur in the conjunctiva of the eyes, leading to visual impairment and causing great pain.

Blisters, abrasions and wounds

A gentle touch or rubbing is enough to disrupt the skin, which is as brittle as paper.

Slow wound healing

Almost the whole surface of the body of a patient with Epidermolysis bullosa is affected. The wounds tend to heal slowly due to inappropriate diet.

High probability of cancer

With this skin disease a patient is much more likely to develop a spinalioma than a healthy person (squamous cell carcinoma), a common cause of skin cancer.

Sensitive esophagus

Increased sensitivity of the esophagus is the reason for receiving mixed and mushy meals. Such a diet often leads to malnutrition.

Ingrown fingers

Fingers on upper and lower limbs grow back into the fist/ foot. The consequence is disability from an early age and the inability to use hands like a healthy person. Patients are rarely able to do any type of work (for example, sheltered workshops).

Low strength of body parts

Epidermolysis bullosa significantly affects hair, nails and teeth, so they are likely to fall out.

Related health problems

Other health problems are caused not only by the EB itself, but also by the lifestyle that people with the disease have to accept. It often leads to malnutrition, anemia, digestive problems, slow wound healing, growth retardation and muscle disorders or bone loss (osteoporosis).

Forms of Epidermolysis bullosa

Epidermolysis bullosa occurs in several forms depending on severity. Based on the common features, the 4 major types of EB of over 30 known subtypes are important. New types of disease are the subject of scientific research.

Simplex

The disease manifests through the fragile skin and blisters at the friction points most commonly found on the palms and feet. Depending on the subtype, injured parts of the body may be equally sensitive during all seasons, especially in summer.

This type is caused by a lack of proteins (keratin) in the skin. Keratin gives it strength, durability and shape. Lack of keratin causes low strength and sensitivity to friction. Blisters are formed even at the slightest touch.

Junctional

JunctionalEB is the most severe of all forms. It causes internal and external blisters which are often fatal. Living with this type is very difficult because it affects the digestive system in addition to the skin. It occurs only in 5% of people with EB.

dystrophic

This form occurs in 25% of patients. A typical symptom is scarring of already healed wounds resulting in ingrown fingers, narrowing of the esophagus, contraction of joints and membranes of the mouth.

Kindler's syndrome

In this type of EB, blisters occur in multiple layers of skin. Typical locations are the inner lining of the mouth, intestines and eyes.

Treatment and treatment of patients with EB

The patient should be treated with extreme caution. The skin is fragile and prone to breaking, which is very painful. Treatment on a soft surface is recommended to minimize friction and abrasion.

How to remove old bandages?

Before the treatment of wounds and blisterson the skin, it is necessary to get rid of old bandages. They tend to grow into the skin in a short time. It is necessary to soak the bandages before tying them. Soaked bandages peel easily from the skin, removing them is less painful for the patient.

Bathing and hygiene

Bathing is recommended 2-3 times a week due to the length of treatment and dressing of wounds. It is recommended to add a disinfectant and oil to lubricate the skin during the bath. Herbs that have a positive effect on the skin, such as rapeseed and marigold may also be used.

Skin and blister treatment

After the bath, the skin is treated with special ointments, gels, solutions and topical antibiotics. Antibiotics should not be used for a long time. Hardened skin and rattles are treated with salicylic acid grease. Loose skin should be cut off to prevent blistering. These arise from the pressure caused by the accumulated skin on the surrounding areas.

The blisters should be punctured with a sterilized needle and the blood or liquid expelled. Open wounds are first disinfected and then covered with a special grid to prevent the skin from sticking to the bandage.

Bandaging of fingers

Fingers on the hands are bandaged separatelyby a special technique intended for people with EB disease.

Oral cavity treatment

Sage and methylene blue solution are used to treat blisters and erosions in the oral cavity.

Advanced treatment is the subject of research

Gene therapy

One of the methods studied in Europe and the USA is the gene therapy. Such treatment is intended to replace defective genes. The biggest problem is the delivery of the right genes to the whole body.

Protein therapy

The subject of therapy is the delivery of a protein that is missing in the patient. It is obtained in laboratories from a cloned human gene. According to preliminary research, collagen protein is a way to temporarily improve wound healing. As with other treatments, it is still under development.

Cell therapy

It consists of injecting genetically correct cells into the patient's body. The cells may come from the donor or from the patient's body after they have undergone genetic modificatio.

Worldwide, research into cell therapy involves methods of bone marrow transplantation (systemic cell therapy) and local therapy, i.e. injecting cells into wounds and blisters to accelerate healing and increase skin firmness.

Side effects of EB

Many patients tend to avoid eating foods that are painful to process and digest. They prefer mashed and liquid meals, which leads to an inappropriate diet.

As a result of poor nutrition and nutrient breakdown, tooth decay and other disorders such as malnutrition, slow wound healing, anemia and growth retardation are more common.

Limitations in life

You can read more about the limitations in life of patients with EB in the article What the life with Epidermolysis bullosalooks like.

 

   
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