Patients with cystic fibrosis: This is a new life. “Improvement was visible just a few hours after taking the drug”

Joanna Baczul was diagnosed with cystic fibrosis when she was 3 months old (there were no newborn screening tests for this disease in Poland at that time). She was gaining weight poorly and was still sick. – I was quickly introduced to the treatment that was used at that time. Therefore, despite the progression of the disease, I functioned quite well for many years, she says.

Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene. There is thick mucus in the respiratory tract, which is difficult to expectorate. Chronic bacterial and fungal infections appear. Over time, the disease leads to progressive lung damage and respiratory failure (lung transplantation may be necessary). The functioning of the pancreas is also impaired, and nutrient absorption disorders and malnutrition occur.

The medicine is like a miracle

The treatment available for many years consisted mainly of daily inhalations, chest tapping, and sinus rinsing. – These types of treatments took me several hours every day, and during infections and exacerbations, up to eight hours. This required frequent, sometimes months-long administration of antibiotics. Infections often ended with hospital stays. However, I wasn’t in a very bad condition anyway. This disease progresses differently in everyone; there are people who almost cannot get out of bed because they have breathing problems, says Joanna.

Despite many hours of inhalation, taking care of physical activity and trying not to get infected, because each infection leads to the exacerbation of cystic fibrosis, the progression of Joanna’s disease was visible. There were times when she couldn’t go to school. Due to her deteriorating health, she also had to interrupt her studies. – It was getting worse, my spirometry was very bad. I did inhalations for several hours a day, but it helped for a short time, I woke up at night due to coughing, and I used the inhaler again. In the morning I felt pain in my lungs and fatigue, I took another antibiotic, she says.

Her life changed 15 months ago when she started taking a causative drug that became a breakthrough in the treatment of cystic fibrosis. – I will never forget the day I took the medicine for the first time. There was improvement after just a few hours, it was amazing. Within a few days, the cough and shortness of breath decreased and I could breathe normally, she recalls.

Thanks to the treatment, she returned to her studies in English Philology, is now preparing to defend her bachelor’s thesis, and has started working full-time – something that previously seemed unimaginable to her. For the first time in his life, at the age of 28, he has the courage to think not only about what will happen today and what will happen tomorrow, but also about his own future, pursuing his passion, a serious relationship, and a family. – I see new opportunities opening up for me. I can walk more and do longer bike trips. I never thought that in my lifetime a drug would be introduced that would have such an impact on my life. Of course, the disease still affects me, but it is no longer life-threatening, he says.

She has always tried to help others, now she has more strength to do so. He is active in an association of cystic fibrosis patients and tries to support other people struggling with the disease.

We have a revolution

“Revolution” – this is how Dr. Hab. n. med. Szczepan Cofta from the Department of Pulmonology of the Medical University of Poznań describes what happened in the treatment of cystic fibrosis, and above all, the groundbreaking decision of March 2022 on the reimbursement of causal treatment with CFTR modulators in Poland. How did this treatment change the situation for patients? – Our experiences are a great relief for patients, joy for their relatives and teams caring for the sick. We are happy with the bold decision to finance the therapy, which is very expensive, made only with a slight delay compared to the richest countries in the world, says Dr. Szczepan Cofta.

He emphasizes that new drugs are a breakthrough, and the effects of therapy are visible both from the point of view of an individual patient and the hospital. – From the perspective of our adult cystic fibrosis center in Poznań, the number of hospitalizations due to exacerbations, which are sometimes very serious, has decreased by two thirds. It also turned out that patients previously qualified for lung transplantation do not require this procedure for now! – he points out.

Patients who have received medications are happy with the treatment options, but there is still a group of patients who are waiting for treatment options. In Poland, causal treatment is currently available to patients from the age of 12, with specific genetic mutations. Shortly after the reimbursement decision for this group of patients, the European Medicines Agency registered CFTR modulator therapy for people from the age of 6 who have at least one F508del mutation and any other mutation. Therefore, currently the group of patients for whom causal treatment is recommended has expanded. – As knowledge advances, a large proportion of patients should receive treatment. We hope that organizational decisions will keep up with progress in treatment, emphasizes Dr. Cofta.

– I would really like to help people who have not yet received treatment in Poland. I can see for myself what a huge change this is in my life. I would like everyone to get such a chance, adds Joanna Baczul.

Adult centers needed

Causal treatment for a larger group of patients is essential. However, this is not the only need of cystic fibrosis patients. Creating new treatment centers for adults is a huge challenge. Until now, there were few of them, because many patients died at a young age. Thanks to progress in treatment, there are many more adult patients. – Care for children with cystic fibrosis is very well organized in Poland. The fact is that there is a good infrastructure of pediatric centers, but above all, there is a beautiful group of doctors taking care of sick children. A challenge for pulmonologists and internists are adult patients, of whom there are over one third. The current years are a time of formation of centers for adults, including: in Rabka, Warsaw, Poznań. A big challenge is the multi-disciplinary care of doctors, nurses, physiotherapists, dieticians, clinical pharmacists, psychologists, pastors and caregivers – emphasizes Dr. Cofta.

Another problem is that not all existing centers for adults have the capacity to isolate patients with cystic fibrosis, and in their case it is very important to avoid the so-called cross-infections. – Several departments or sub-units for the treatment of adult patients with cystic fibrosis should be established in Poland. It is also worth focusing on home care to avoid hospitalization if it is not necessary. In Poznań, we were the first in Poland to introduce a system of home intravenous antibiotic therapy. Some patients manage to avoid long hospital stays and receive intravenous antibiotics at home. We encourage other centers to develop this treatment method, emphasizes Dr. Cofta.

In addition to causal medications, patients still require physiotherapy and call for better access to home physiotherapy (for many of them it is unavailable). Another problem is that not all symptomatic drugs are reimbursed, just like vitamin preparations or pancreatic enzymes. As a result, the costs of caring for a patient with cystic fibrosis are often very high. – The method of social support for patients and their relatives requires consideration. As medics, we must create teams of medical professionals maturing for optimal care, adds Dr. Cofta.