Ljubljana – Today, on the European Day of Rare Diseases, today's profession will meet at the Fifth National Conference, with the participation of the representative of the European Commission, Dr. Alexandra Binder is becoming international. Today a new European platform for rare disease registries is starting to work, with 30 million people suffering in Europe 10 times in the world and 150,000 in Slovenia.
Despite significant progress, including 24 European reference networks established in 313 hospitals with 24 disease groups, rare diseases require systemic improvements. Because about 95% of these diseases still do not have adequate remedies and there is adequate provision for medical and medical care and therapies. Heart letters, written in February by the William Julian Charity Fund, is just one of the "heart" opportunities when the company can show that it does not care about small fighters – everyone is a child and three in ten do not wait for the fifth birthday day – and their families. They struggle daily with prejudices and exclude people from the "normal" society. This year's password for rare diseases day is ubiquitous: patients should show their "rarity" and "normal" to show their concern for them. In order to find the best specialist for the poorest, it is also the imperative of the European Commissioner for Health and Food Safety Vytenis Andriukaitis.
Rare Disease Day this year offers an opportunity to unify humanity with a campaign logo that draws attention to overcoming global problems that accompany rare disease patients and their families in the field of health and social care policies or services.
Philip, Charles and Lorraine are just three of the 30 million Europeans and 350 million Earthlings with a rare disease. The first comes from Romania, the other from Croatia, Lorena is from Spain. Their stories are based on this year's February 28 campaign, the day of rare diseases. In our country, orphan diseases were discovered in 150 thousand inhabitants. Twelve years Hemophilic Marko is just one of them.
AFP Hemofilic Marko: If he can not beat the football, he plays badminton. (photo symbolic) AFP PHOTO / Johannes EISELE Photo by Johannes Eisele Afp
The eighty-year-old Romanian boyfriend, Filip, has achondroplasia, Karlo type 1 neurofibromatosis, and Lorena lives with Phelan-McDermid syndrome. Or, for ease of comprehension: they suffer from interrupted growth, progressive disorders of the central and peripheral nervous system, and a rare genetic disorder involving the partial erosion of chromosome 22q. Mark's fate is the slow blood clotting. Hemophilia, previously known as "vascular" diseases, and some of the lesser-known rare diseases, such as hyposomatotropism (growth hormone deficiency), mastocytosis (dermatological disease), and Huntington's chorea, a neurological disease of uncontrolled sudden movements, National Conference on Rare Diseases in Brdo. . According to Jože Faganel, president of the Association of Rare Diseases, the latter is "a brilliant remedy." It was revealed at the conference. It will also present important progress in the field of screening tests for newborns in Slovenia. Last year, they were screened for two diseases, now the screening has been extended by over seventeen innate metabolic diseases.
The diagnosis of hemophilia-A, reminds Mark's mother (the name is fictitious), did not put the boy at four years of age. Hemophilia occurs with one in 10,000 boys born, in Slovenia there are about five hundred people. Although Hemophilus is also Mark's grandfather and his mother was a carrier, the news of hemophilia was a shock. Mamiko says: "Marko jumped on the trampoline, hit his knee and the water started to accumulate in him." He stayed a long time and the doctor came back in two weeks to review the orders, but something did not give us peace. home and we saw bleeding … "Two weeks ago, Marcus would probably be fatal … Now he has learned to live with hemophilia. He does not kick soccer or basketball as his peers, but he practices badminton. Or, as he says, "Badminton is my second sport, the first is the flexing of your fingers …" Shortly after a second, she added, "… on the keyboard." Mom adds: "In kindergarten , other mothers were often guarded by me because we did not allow him to climb in. But our son is not like the others: to give him a patch on the wound and the thing would be arranged.In case of bleeding, a coagulation factor blood supply of eight that is not always available in hospitals … because it is very expensive, "says Mom. Jože Faganel, the most difficult form of hemophilia, also lives in the worst form of hemophilia A, who says that it is more reliable to have a factor with himself or to be maintained by his parents, as if a person were at risk of being in the hospital at the moment . Drugs for the treatment of rare diseases cost more than 100,000 per patient per year. Among rare diseases, there are 196 rare cancers. In Europe, there are four million people who survived one of them.
Jože Faganel, president of the association of rare diseases, also has one of them: hemophilia A.
The list of rare diseases has 7000 dashes, 350 million people are sick.
In Slovenia, a rare disease was found in 150,000 people.
Last year, there has been significant progress in babies: they have already been screened for twenty diseases.
In 80% of cases, rare diseases, supposedly between 6,000 and 7,000, of genetic origin, in 75% of cases, affect children and are often incurable. A rare disease is found in one in ten people, for most – according to some data in more than 90% of the disease – there is no remedy; if they were newly registered in Europe 110 years ago, their costs are often heavily implicated in health checkups. Slovenian Treasury medicine for rare diseases costs about 36 million euros annually, which accounts for seven percent of all drug costs.
(the story of Mark's mother)
While health professionals get in touch with hemophiliacs immediately with their ears and at the hearing, aware of the fatal consequences, they follow the guidelines closely, the company is often not sympathetic and understanding, says Marcos's mother, who remembers the many more experiences in the child's twelve years of life.
Hemofillia became an early label, that Marco, as a child, preferred to scratch the skin and crush it on the wrist in order to feel accepted with his peers. So he protested against the crowd, which according to his mother is due to ignorance and lack of empathy, which is also a growing problem of society.
Instead of accepting or at least a small dash of compassion, Marko became a childhood "This spoiled child", that parents become excessively into a wad, a boy no one invites for his birthday because he can get hurt at the party, and then they are the "snicker" that his peers can not "swallow" because they can bleed. And right here they were confronted with a situation that showed how firm society is. Mother's schoolmates have complained that they use precautionary measures to take advantage of the disease, which is not fair to other children … As if the "disease" is honest when choosing a "victim" …
Due to hemophilia, the boy should receive a drug on certain wounds – a blood clotting factor concentrate that lacks a possible internal bleeding. "In the face of falls and other injuries that were not very few in the growing season, Marko was often" invited "to the hematology department of the pediatric clinic in Ljubljana. While other parents were blowing insects and mending their bleeding knees, we were spending more time stressful, especially an otter that never got used to the needles and received the therapy, which made him cry aloud repeatedly, protested and wondered what he needed all this, "recalls Mark's mother.
And to save him as much as possible, they were careful. Surrounded by a series of restrictions, Marko felt different and very poorly deprived of all the malicious mischief that other children could do. However, despite the caution, the injuries occurred – many falls and accidents were followed by a run on the white hammers, accompanied by sighs, eye contact and moderation of parents who would not "panic" because of "such battle wounds ".
Today, Marko is a teenager, learned to live with hemophilia and, in addition to not being able to deal seriously with football or basketball, the disease seems more than a limitation. He has survived some serious injuries, so he simply knows that he must be cautious, whatever he does, in particular, because his knees still harden their needles. What remains painful is the ungrateful label that fades over the years, but still retains a bitter touch, concludes Mark's mother.
"I hope you go bleed" the classmate shouts behind him and laughs a lot. Our boyfriend is sad about this, asks Mark's mother. The greatest comfort was given to the words of her children, that she was accustomed not to use the skin of a classmate when she once realized how difficult the words were, with which he so easily said, "Our boy grows, his skin is getting thicker, the world and people get even deeper … "