BERGEN (Dagsavisen): Seven cupboards in a row in the knee wall, crammed full of bandages and other equipment for six-year-old Isabela. The little girl suffers from the rare disease epidermolysis bullosa (EB) which makes all these things necessary every single day.
– None of this can be bought at a regular pharmacy. Everything must be special ordered. Three times a year we buy in NOK 3-400,000, so a total of around one million a year, says mother Ruta as she opens cupboard door after cupboard door.
Out of consideration for the six-year-old, Dagsavisen has chosen to only refer to the family members by their first names.
When we visit the Lithuanian family in Alver municipality outside Bergen, the first-graders have just come home from school. When she was younger, the family wasn’t even sure if she was going to go to regular school or kindergarten. But tough Isabela has defied the odds.
– We imagined that she could never have a normal life, says the mother.
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In a series about rare diagnoses, Norwegians who are affected tell about what it is like to live with the disease.
What they all have in common is that they want openness, raising knowledge and breaking down the stigma around having an unusual disease.
Other articles in the series:
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Would donate his skin
There was nothing to suggest that Ruta and her husband would have a child with a rare genetic disease. Only around 15 in Norway have the most serious degree. Isabela is one of them.
– Neither I nor my husband have EB in the family. We had never even heard of it. And nothing showed up on the ultrasound. The pregnancy was completely normal, just like when I got pregnant with my older sister. So when the water broke on a Friday, I thought the four of us would be back in our house on Monday. But it didn’t turn out that way, says the mother of two.
Because it became very dramatic after the birth. The little baby was missing skin on his leg, and had to go straight to the intensive care unit. A shocked Ruta could only hold the little nurk for a couple of minutes, before her daughter was rushed away.
– I said I would donate my skin, if that was the case. She could be operated on in Dubai, or wherever the best experts were. Everything would be fine, I said, as they wheeled her out of the room.
Cardiac arrest of morphine
Isabela was transferred to 24-hour monitoring, where a nurse made sure she did not scratch herself. Meanwhile, Ruta scoured the internet to find out what was wrong with the newborn. When she was diagnosed with epidermolysis bullosa, it really dawned on her that the problem could not be solved by a plastic surgeon in Dubai. The doctors at Haukeland University Hospital had suspected the same thing.
– They had taken a genetic test and were waiting for an answer. But they were pretty sure it was EB. They could not answer whether she had the severe or moderate degree. When the results from the genetic test finally came, it turned out that she had the severe degree. Of course, says Ruta quietly. It starts to build up in her when she thinks back to her maternity days.
– For three weeks she received morphine for the pain. It led to cardiac arrest several times, and one of the times I held her in my arms. I literally had to shake her life again, she says while her voice fails.
At the hospital, she and her husband received training in wound care and intricate bandaging. Three months after the birth, the family was finally able to return to the house in Alver. Everyday life with a chronically ill child should start there.
Sore from nothing
The gene defect Isabela has means that necessary proteins are not produced in the body. Proteins that will bind the skin layers together, so they are stable. Without these, almost nothing is needed before the skin cracks and blisters and sores appear. The smallest bump can be enough. The skin is often compared to the fragility of butterfly wings, and children with the diagnosis are therefore often called “butterfly children”.
The six-year-old must constantly be on the lookout for things that other children don’t even think about. Like sliding down from the sofa, or lurking on the living room table. The parents have therefore replaced the smooth leather sofa with a fabric sofa. The living room table also had to be straightened out, and was replaced with one that had padded edges.
She carefully chews a soft biscuit to avoid getting sores and blisters inside her mouth. The possibility of damage extends all the way through the esophagus and down into the stomach. If she gets blisters, they must be punctured immediately so they don’t grow bigger. It can lead to heartbreaking situations.
– Once we were in a shopping center and I saw that she had developed a blister inside her mouth. At full speed I took out a sterilized syringe tip from my pocket and punctured the blister. What I didn’t think about was that there were other people around us who saw this and they alerted the guards. Crying, and in poor Norwegian, I had to explain the complicated illness to the guard. I was terrified that they would call the police and child protection, says Ruta.
She also talks about suspicious looks from strangers when they see her daughter’s many wounds.
– It hurts, but at the same time I understand them. They don’t know us or the disease.
Huge amount of time
Every day, Isabela has to go through a regimen of ointments, bandages and dressings. The ritual on the specially made changing table can take 45 minutes in the morning, and up to a couple of hours in the evening.
– I get up at 05.30 every day to make breakfast and lunch boxes, before I change her bandages while she is half asleep. The entire calf of her right leg must be bandaged, and other places where she has wounds. Brushing must be done very carefully so as not to scratch the gums. The hair is arranged and the clothes must be put on carefully, the mother describes.
While Isabela can continue to sleep, it is older sister Patricija’s (7) turn. After a couple of hours, the whole gang is ready to drive to school.
Although the doctors had predicted that Isabela would never be able to go to kindergarten and school, she started kindergarten at the age of two.
– Until then, we had run around her with pillows, and been very careful about letting her play outside. But we saw that she played well with other children, and decided to try the kindergarten. My only requirement was that I should be employed as her assistant, says Ruta.
No cure
Another milestone was reached this autumn, when the six-year-old started first grade at the local school. Several of the friends from kindergarten started in the same class, which was a relief for the family.
– They know they have to be careful with Isabela. And before the start of school, I held an information meeting for parents and teachers who don’t know us.
So far so good, Isabela has put the gloomy predictions to shame. But Ruta still fears what the future will be like for her daughter.
– I myself have seen how this disease has developed in others, and it worries me. Among other things, the chances of cancer are very high. Whether there will ever be a cure is highly uncertain. But in the USA there are several research projects on gene therapy. None of them have been approved yet, but we hope they will. Then we will be happy.
Elisabeth Daae is a PhD scholar at the Center for Rare Diagnoses at Oslo University Hospital (OUS). She says that research is ongoing on several fronts.
– But there is no immediate cure in sight. Some of the projects investigate gene therapy, and the first gene therapy ointment has been developed. It has not been approved in Norway yet. Bone marrow transplantation has been tried out in other countries, but it has resulted in many serious complications, says Daae to Dagsavisen.
She speaks on a general basis, and not specifically about Isabela’s case.
– A shock
Today, the only treatment is to wrap oneself in bandages, be on the lookout for blisters, smear the skin with ointments, be careful.
– Patients and parents must take precautions, and plan most things. The disease is associated with pain, especially the severe variants, and skin care is difficult to carry out. It can take a long time, often a large part of the day, and special bandages must be used that do not stick to the skin. Upholstery of prams and car seats, basically everywhere the child will be, must be adapted. If you’re going out into the world, you have to look after the child, and it’s not that easy to let it explore on its own, says Daae.
She finds it admirable to see the solutions parents find to protect their children. And not least the stress they have to endure over time.
– For many parents, this is a shock, especially if none of them has EB in the family before. But at Rikshospitalet we have a separate EB team that helps them, together with occupational therapists, nurses, nutritionists, surgeons, psychologists and paediatricians. The user organization Debra also provides good advice and support.
Dealing with reactions from the environment is among the things that many people need help with.
– Some feel they have to explain to neighbors why there is a lot of screaming and howling from the home, or are reluctant to go on holiday where they will have new neighbors around them. They get a lot of strange looks and questions from people who think they are harming their own children or not taking good enough care of them. That suspicion from others is one of the worst things, says Daae.
Disappears in salt water
Ruta and her husband have taken their daughters to their home country of Lithuania several times, but high heat in the summer causes Isabela to sweat more and new skin problems arise. The parents also do not trust the healthcare system abroad when it comes to such a complex condition as EB. That is why they prefer the summers in Norway.
When they discovered that Isabela got a good effect from bathing in the salt water at Åkrasanden on Karmøy, they might as well bought a cabin there.
– After a week of sea bathing, all the blisters were gone. Now we go as often as we can to Karmøy, says Ruta.
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Facts about rare diagnoses
- Three to five percent of Norwegians have a rare diagnosis.
- A diagnosis is considered rare when fewer than one in 2,000 have it.
- Today, around 6,000 to 8,000 rare diagnoses are registered.
- For a few conditions, there is cause-oriented treatment. Gene therapy has been started for a small number of diagnoses with the hope of a cure.
- There are currently nine competence centers around the country, which are part of the National Competence Service for Rare Diagnoses (NKSD). The purpose of the services is to build and spread expertise, as well as focus on what it is like to live with a rare diagnosis.
- In order to obtain reliable figures regarding occurrence, a national rarities register is being built up.
- The centers contribute to research by inviting relevant candidates to participate in research projects and clinical studies.
- For rare conditions, expertise is built by gathering knowledge and experience. The knowledge is spread via websites, e-learning courses, podcasts, films, physical courses and, last but not least, video conferences with the patient’s local assistive device.
Source: Center for Rare Diagnoses
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