Josefin is one in a million – living with rare Gothenburg disease by Post



New bunches are immersed in a kitchen inside the furniture. Josephin 's helpers are. Leija's cat is acute and it's harder. The view of the hotel's deer forest from the balcony will be an exploration port for people's lives.

– A man in one of the hotel rooms went down on his knees and released to his girl. It seemed like she said "yes". There was a little floor down I also saw two men who fought, she says and looked at the hotel.

The body is chopped down

Josefin Ahl, 33, has been living in Gothenburg for his life. She has been studying journalism, playing the drama and singing in a choir. But it is harder to keep up with it. From childhood, her body has been slowly closed and today its move is almost exclusively limited to the & # 39; right arm.

– I did not think life would be like this. But I lost dad, I always wanted to do what I wanted. There was never a goal to run around and to # 39; keep going.

The reasons came in the mouth. When Josefin was eight years old, the parents felt she was dead.

– I had a hard time to learn to swim and swim; riding. The doctor suspected the brain tumor. I did not think about it then, but I have to remember to & # 39; walk past those who shout; "Are you full or not?" He settled on memory. And when I got a wheelchair, my friends turned my back, stopped harassment, she says.

His mother got cancer

At the same time as the first mark, her mother also became ill in cancer.

– She died when I was twelve. My father has a & # 39; It means much to me and he took care of me when my mother was away. Now it's coming in and its & # 39; take me every week.

There is no company shortage. In addition to Leija, Josefin always has two assistants on 24 hours a day, every day of the year.

– You're just like the situation, she says and laughs.

We will take a short break. Josefin gets drunk in a quiet speech than he can get help from a helper. taking some of its favorite energy plants. There are plenty of them in fridge. The everlasting sound of the air is like a cradle over its call. Leija seems to have been trying to have a & # 39; getting food and lying down on the bed in the living room.

– One of the backsides of the disease is alone. There are no societies or organizations, and what I know, there is only one other in Sweden with the same review, she says.

Two years ago, the doctors compiled all parts of the riddle and Josefin was told that her Alexander's disease had been diagnosed with an advanced mental illness with just one of 2.7 million people. Doctors do not know how long she left to & # 39; live.

– I thought ideas like "why i'm just". But it is without use. You will find the obstacles in the life you receive, so you need to make the most of it.

There is no cure

But there is no cure, and the obstacle to rare diseases is that they are rare, says Pontus Wasling, a senior neurologist in Sahlgrenska University Hospital.

– Often there are not many patients and it is not an economic profit for treatments and drugs, he says.

– However, rare infectious diseases account for about one in five of the diseases. So there are many diseases, but all diseases have very few people. Together, there are many people who have unusual diseases.

For Josefin, he took 25 years after receiving his marks until it was confirmed. But recent research has been carried out in the United States, Sahlgrenska's modern modern generation and methodology for the development of a backbone in Sahlgrenska have helped.

– There are new opportunities, and it's easier to find Alexander's disease today by using this backbone sample with other tests. But I think there's a dark number, says Pontus Wasling.

B & B evening; and it only appears from some hotel rooms across the street. Shortly, Leija gets her food.

– I see myself as a spokesman for the disease. It's a good sense to tell and be able to put something together, says Josefin.

– I always said it's special, now I know I'm there.

Alasdair's Disease

Adverse mental illness is very severe in children, by increasing headaches, muscle weakness, larger fever tightening and potentially associated with anti- track of development.

Caused by a variation in GFAP gene and without a cure that can cure or prevent the disease.

The rehearsal means a shorter range of life, no matter how big.

How many people or adults in Sweden are experiencing Alexander's disease, but according to the Sahlgrenska doctors you are aware of remote issues.

According to Japan's survey, about 1 in 2.7 million people are diagnosed with illness. Other research shows that 1 in the millions can be born.

Private healing

Unsurprising judgments are unhealthy infectious diseases and contracts. So the need for good knowledge. To be defined as an unusual diagnosis, according to Solar criteria, up to 100 people per million residents need to have the disease and continue to be in a disability.

Few days will take place on 28 February each year to take account of unusual statements.

Source: National Health and Welfare Board, Nationwide Analysis of the disease of Alexander in Japan, rarediseases.org

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