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Rare diseases are those with a frequency of less than 5:10. However, there are over 000 of them, making six to eight percent of them suffer from them. society. It is estimated that about three million people in Poland are affected by rare diseases. See examples of ailments from this group.
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- Monika Miller honestly about the disease: “I was not able to sit in the chair”
Monika Miller, the granddaughter of former Prime Minister Leszek Miller, publicly admitted a few months ago that, in addition to fibromyalgia, she also suffers from another incurable …
- Niemann-Pick disease – childhood Alzheimer’s disease
It’s fall 1999. Michał, a resolute six-year-old, sits down at the table to eat a watermelon. Smiling and a bit excited, as always when he lands on the plate …
- FOP turns a muscle into bone. The pain is unbearable [LETTER TO THE EDITOR]
FOP – this disease is both fascinating and terrifying. Man has 30 thousand. genes, only one mutation is responsible for FOP, turning a healthy muscle into hard bone….
1/ 8 Cystic fibrosis
Cystic fibrosis is a genetic disease characterized by disorders of the endocrine glands. It causes thick mucus to build up in the lungs, making them less efficient and more prone to infections. Changes often appear in the pancreas, which causes the organ to malfunction and cause chronic inflammation. The disease is incurable and it is only possible to alleviate its symptoms. Lung transplantation is often a life-saving procedure in patients.
2/8 Homocystynuria
Homocystunyria is the excess build-up of homocysteine in the body. This is due to improper metabolism of methionine – an amino acid contained in food. Homocystinuria adversely affects the functioning of the whole organism, and the most common cause of death in the course of the disease is venous thrombosis. If a child is diagnosed with the disease quickly, the lifelong treatment enables proper development and prevents negative health effects.
3/ 8 Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. Its first symptoms are problems with controlling the hand muscles. Then there is paresis of the legs. During the course of the disease, patients have less and less control over their muscles. The disease is incurable and death occurs due to the weakening of the respiratory muscles. Stephen Hawking suffered from amyotrophic lateral sclerosis.
4/8 Mukopolisacharydoza
This is another genetic disease that involves a disorder of metabolism. As a result of changes in cells, mucopolysachards accumulate, which negatively affect the functioning of the entire organism. The disease is very difficult to detect. In children, it is manifested by polyps of the mucosa and hernia. There are also problems with the joints, corneal clouding and digestive system disorders. The disease is incurable and it is only possible to alleviate its symptoms.
5/ 8 Curse of Ondine
Ondine’s curse is genetically determined, and its essence is a malfunction of the autonomic control of breathing. It can even result in death from apnea at night. Therefore, diagnosed with life-long patients must use apparatus that supports breathing during sleep.
6/ 8 Grasiczak
One can get the impression that rare diseases are only ailments with a genetic basis. It is not so – this group also includes thymoma, i.e. a tumor of the thymus gland. The thymoma usually develops in the mediastinum. The treatment involves first surgical removal of the lesion, followed by radio- or chemotherapy.
7/8 Progeria
Progeria is a genetic disease in which the aging process is accelerated. As a result, patients with progeria live on average only 13 years. A single mutation is responsible for this ailment, which prevents the protein stabilizing the membrane around the nucleus from working properly.
8/ 8 Retinoblastoma
Although retinoblastoma is a rare disease, it is the most common intraocular eye cancer in children. The first symptom of the disease is a “cat’s” gleam in the eye, or leukocoria. Topical treatment with chemotherapy and radiotherapy is possible. Thermal methods and laser coagulation are also used. As a last resort, enucleation, i.e. removal of the eyeball, is performed.