PORA — Patient Organizations Ready to Act

Pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare lung disease leading to cardiovascular failure, the need for a heart and lung transplantation or death. Every morning a patient wakes up with suffocation and feels as if he has a bag tightening on his head.

Life expectancy without treatment is up to 3 years.

Schizophrenia, autism, mental disorders

The war has broken the already fragile world of children with mental disorders. The most devastating circumstances include forced separation from relatives, inability to continue a habitual life routine, unfamiliar surroundings, unknown language and others. All this turns into psychotic conditions, sleep and eating disorders, destructive behavior, self-aggression and other complex manifestations in children with mental disorders. This is just a small list of problems and conditions, many of which require medical intervention.

Wilson-Konovalov disease

Wilson-Konovalov disease is one of the most severe inherited diseases of the nervous system and internal organs challenging to diagnose. The disease is associated with copper metabolism disorders.

It is a disease with chameleon effect as it manifests itself in many forms, one of which affects the liver and leads to death faster than the first symptoms appear. Very often this is the final diagnosis after a patient's death. Therefore it is critical to make a timely diagnosis and start treatment.

In this case the patients have at least some chance for life. In recent years this disease is more often diagnosed in childhood. Since this moment and for life-long a person has to take medications and follow a strict diet with a limit on copper amount (no more than 1 mg per day). It is very difficult to explain to a small child why yesterday it was fun to eat chocolate and from now on it is forbidden forever. Or how to answer a question from a child crying from hunger that among all children in this big city he or she is the one affected by Wilson-Konovalov disease and you cannot give him/her food because 1 mg of copper has already entered the body.

JIA

Juvenile idiopathic arthritis (JIA) or rheumatoid arthritis is a rare severe autoimmune disease causing inflammation of mainly joints and also affecting heart, eyes and other organs. A child experiences constant severe pain in the joints, may lose vision and motor ability. Without treatment the child is stunting and his limbs are deformed. Cost of treatment, which is either life-long or lasts for months and years until long-term remission is up to $1,500 per month. Interruptions in treatment cause severe complications and drug resistance when medications no longer work. That is why it is important for JIA patients to take medicines on time.

Primary immunodeficiency disorder (PID)

Children and adults with primary (congenital) immunodeficiency disorders are prone to infections, which are more complicated and longer-lasting than in people with healthy immune system. But the greatest danger of this disease is in irreversible changes developing in the organs without appropriate treatment. These are diseases associated with genetic deficiencies, so they are lifelong and a patient is dependent on medicines.

Life of people with primary immunodeficiency disorder is always a winding road. Now the war in Ukraine further aggravated the problem, because patients with PID often suffer with concomitants complicating their socialization.

Osteogenesis imperfecta

Osteogenesis imperfecta is also called ‘crystal’ disease. This seemingly beautiful name hides pain and tears from birth. This rare disease is associated with brittle bones resulting in easy bone fractures and breaks caused by defects in genes responsible for bone structure.

Some children are born with multiple fractures and deformities of the arms and legs. In the course of life people with osteogenesis imperfecta receive from dozens to hundreds fractures, causing numerous deformations and severe disability.

However, modern and timely treatment with application of endoprostheses allows children to live a full life.

Epilepsy

In Ukraine more than 4,000,000 people suffered from neurological diseases, most of which were accompanied by epilepsy. We used the past tense on purpose, because the number of people with epilepsy is growing exponentially every second: stress, lack of sleep, malnutrition or a blow to the head provokes and causes this extremely complicated disease. Doctors do not have time to predict the need for medicines, as it is impossible to know in advance how many people will be injured during the night. Because of this, neurological departments and intensive care units are in a chronic shortage of medications. We should become a reliable rear of the state and support it in rescuing its citizens.