They occur quite often. Almost 3 million Poles suffer from them

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.

Gaucher disease is an example of a rare genetic disease that can lead to dysfunction of the liver and spleen, as well as skeletal and nervous systems, preventing normal functioning. Today, they are professionally and socially active people who, at first glance, cannot be said to be struggling with a serious disease. The main focus of Gaucher disease organizations is to improve diagnosis and quality of life for patients by providing more convenient forms of therapy. Although the example of Gaucher’s disease proves that in Poland adequate help for people with rare diseases is possible, there are still many more unsolved problems of patients.

Fabry disease is a disease with very similar mechanisms of development and treatment to Gaucher disease. The difference is the lack of access to life-saving therapy, which has been successfully used for years in all European Union countries except Poland. Without treatment, patients with Fabry disease struggle with pain, strokes and multi-organ failure that inevitably lead to the need for transplants.

Leigh’s syndrome is a genetic disease whose first symptoms most often appear in childhood. The disease manifests itself, inter alia, in reduced muscle tone and imbalance, coordination of movements and breathing. Consequently, the disease leads to premature death in the teenage years. Parents of children diagnosed with this syndrome do not feel helpless. There is a lack of treatment and positive prognosis. Parents of two children from Poland, on their own and with their own resources, provide their children with access to experimental therapy conducted in Italy, where they go every two months. The patients’ association is seeking access to drugs that are not yet registered under the so-called compasionate use procedures also for other patients from Poland.

Epidermolysis Bullosa (EB) – vesicular separation of the epidermis is a disease in which the slightest touch causes painful wounds to appear on the skin surface, resulting in numerous deformation scars. Today, patients – mainly children – have no chance of causal treatment. They associate their hopes with experimental therapies worth millions, which they can use, for example, in the United States. The parents of children raise funds for this purpose themselves.

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.

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 suffers from amyotrophic lateral sclerosis.

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.

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.

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.

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.

Although retinoblastoma is a rare disease, it is the most common intraocular eye cancer in children. The first symptom of the disease is “feline” reflection 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.