To breathe = to live! Help people with rare diseases

Children and adults with rare (orphan) diseases that cause chronic oxygen deficiency – pulmonary hypertension, cystic fibrosis, spinal muscular atrophy – need oxygen concentrators. The availability of round-the-clock access to outpatient oxygen therapy helps to improve the quality of life of orphan patients, facilitate the course of the disease and prevent possible complications.

Alina is 16 and she dreams of being a doctor. “I want to treat children,” she says. The girl knows well what these words mean: since she was born and diagnosed with a heart defect, she has been a frequent guest in hospitals. Due to a concomitant rare disease, which came in full force several years later, Alinka constantly lacks oxygen and as a result often loses consciousness. In case of pulmonary hypertension, the vessels of the lungs do not allow enough oxygen to pass through. Alina gets tired after walking a few steps, she sometimes has to breathe through the oxygen concentrator all day. The one they have is heavy. “It weighs about 20 kilograms,” sighs her mother Lyudmila, “you don't go to school with this.” Therefore, Alina is graduating online the 11th grade of secondary school. In order to make a reality her dream of being a pediatrician and treating children, she needs to be mobile. It`s easy to attempt with a portable oxygen concentrator.

Our Fund continues to help persons with rare (orphan) diseases that cause severe chronic oxygen deficiency, providing them with special medical devices – oxygen concentrators. Rare is mainly a congenital or an acquired disease that occurs no more than 1 in 2000 cases. Without complex treatment, it chronically progresses, significantly reduces the quality of life and shortens the life expectancy.

The average life expectancy of patients with pulmonary hypertension without treatment is 2,5-3 years after being diagnosed. This disease most often manifests in childhood and adolescence. Therefore the oxygen therapy is an important supportive factor of treatment and should be long-term, sometimes lifelong. 

Breathing becomes more difficult in case of a congenital disease of cystic fibrosis. Viscous mucus gets stuck in the bronchi, lungs ventilation decreases and, as a result, hypoxia of all internal organs occurs. Children with spinal muscular atrophy are not able to breathe normally because of significant muscle weakness resulting in hypoxia which complicates the course of the main disease.

In order to help our Fund’s wards – children and adults with these orphan diseases we need to provide them with oxygen concentrators. Depending on severity of the desease course, the optimal concentrators are semi-portable (up to 16-20 kg) or portable devices that gives possibility to remain mobile: children can study offline at school, and adults can work, raise their children and travel. This is especially important when you need to travel for long distances, to go and stay in the hospital.

The number of orphan patients applying to the Fund for help  is constantly growing. The current need of our wards is 10 portable and 10 semi-portable oxygen concentrators. We will be grateful for every contribution for supporting our project - for your help to the Fund's wards with orphan diseases to breathe, and therefore to live!