For two weeks now, parents of children with Duchenne Muscular Dystrophy (DMD) have been spending their nights in front of the Administration of the Government of Georgia. They are demanding a chance at life from the state\u2014a medicine that, despite its high cost, has already become a daily reality for children in many countries around the world, yet remains a subject of discussion, research, and deliberation for the Georgian authorities.<\/p>\n
In this country, another group of children is waiting for medication, so far in silence. Cystic Fibrosis (CF) is also a rare genetic disorder that slowly destroys the lungs, the gastrointestinal tract, and the entire body. It is a disease where every birthday is met with fear, as only a very small fraction of children with this diagnosis in Georgia reach adulthood.<\/p>\n
Today, there are approximately 90 children with cystic fibrosis in the country and only a few adult patients. This is at a time when the average life expectancy in Europe is already 42 years, and with modern CFTR modulator treatments, patients are reaching 60\u201370 years of age. According to the German Cystic Fibrosis Registry, the median survival age in 2023 reached 66.8 years.<\/p>\n
This progress is the result of science, early diagnosis, multidisciplinary care, and expensive but effective therapies. This was the central theme discussed by world-class experts gathered in Tbilisi for the South East European Cystic Fibrosis Conference. Among them was Professor Lutz Naehrlich, Head of the Department of General Pediatrics, Pediatric Pulmonology, and Mucoviscidosis at the Marburg University Clinic\u2014a physician who has witnessed firsthand how a fatal diagnosis can be transformed into a chronic, manageable condition.<\/p>\n
In Tbilisi, he reiterated what the parents of these children have been saying for years: “The medicine is expensive, but it is effective.” And when treatment exists, even the most severe diagnosis should no longer be a death sentence.<\/p>\n
We will tell you about the parents’ deepest fears, the doctors’ primary arguments, and the people whose only demand from the state is the right to life.<\/p>\n
Answering our questions on these critical issues are Professor Lutz Naehrlich and Dodo Agladze, Head of the State Program for Rare Diseases in Georgia.<\/p>\n
Dr. Lutz, thank you very much for the interview. This year, Georgia is hosting an event of this scale for the first time. Why did you choose Tbilisi to hold the 13th South East European Cystic Fibrosis Conference?<\/b><\/p>\n
Thank you for your interest. We saw that while some patients in Georgia have been diagnosed with cystic fibrosis, there are still problems with diagnostics, and it often doesn’t happen in a timely manner. I believe this was precisely the reason for choosing Georgia, as it sits in the heart of a region where this process is developing very dynamically and where our knowledge and interaction can truly have a significant impact on the patients’ condition. There is an opportunity for improvement here, as well as a great desire for cooperation.<\/p>\n
Let\u2019s talk about the progress Georgia has made in recent years. In your opinion, what are the challenges regarding disease detection or treatment, and at what stage of development are we in the region?<\/b><\/p>\n
I think it is very important to increase awareness so that clinicians can quickly suspect this diagnosis in complex cases. In my opinion, progress has been evident in recent years, but there is a need to establish a specialized center where diagnostics can be carried out professionally, as one of the difficulties is that the diagnosis is not easily made through a simple blood test alone.<\/p>\n
It was also important to raise awareness and include this disease in newborn screening so that cystic fibrosis, as a congenital disease, can be detected at a very early age. However, this also requires high-quality testing, the availability of which is very limited. Regarding newborn screening, the implementation of the sweat test, and the creation of a specialized structure, I believe significant steps have been taken recently. This is a major step forward toward ensuring timely diagnosis and the initiation of effective therapy.<\/p>\n
One of the major issues families in Georgia often talk about is the availability of both daily supportive medications and those drugs that impact the quality of life. How would you assess the chances of treatment in Europe and what is happening in this region?<\/b><\/p>\n
That is a very good question. We have learned a lot about basic treatment, symptomatic management, pancreatic function replacement, nutritional support, and genetic innovations. All of this has increased life expectancy from 17\u201318 years to 40 years. However, treatment has always been a subject of discussion because it is very expensive.<\/p>\n
In recent years, we have seen a significant breakthrough\u2014patients are being funded for essential medications. Previously, only part of the medication was funded, while the rest fell as a heavy burden on the patient and their family. When effective medications exist but are not accessible or properly funded, therapy cannot be successful. Therefore, the reimbursement system is a crucial issue.<\/p>\n
You mentioned that life expectancy has increased to 40 years. Is this solely linked to the availability of medications?<\/b><\/p>\n
Yes, and also to better knowledge and better care. Treatment must be continuous. Infection control, proper nutrition, and protecting the lungs from infections play a particularly large role.<\/p>\n
As for the new gene modulators developed recently, they act directly on the cause of the disease. However, the drug’s effectiveness depends on the type of mutation\u2014it is not effective for all mutations. In this region, as in Turkey and other countries, 10\u201320 percent of patients do not produce the protein at all, so this specific drug will not work for them. But for the other part of the patients, new medications open up immense perspectives.<\/p>\n
How effective is this treatment and how much does the therapy cost? Is it a one-time course or is it administered continuously?<\/b><\/p>\n
This medication needs to be taken daily, for a lifetime. As soon as a patient stops taking it, the effect disappears very quickly. The drug’s action depends directly on the genetic mutation. If the body produces at least some amount of protein, then it is possible to improve its function.<\/p>\n
The clinical picture of patients whom this drug will help and those whom it won’t is very similar\u2014in both cases, pancreatic insufficiency is evident. Therefore, genetic testing is essential to determine exactly whether the new drug will work. Proper patient selection is required.<\/p>\n
As for the price, the treatment is quite expensive, though the cost depends on the country and negotiations. Economic systems in Europe vary greatly, but progress has already been achieved in the Balkan region. In Bulgaria and Turkey, after several years of discussion, patients gained access to these medications. The situation is similar in other countries. The price may be adjusted for a specific country. For Georgia, this is still a matter of negotiation. One thing is certain: the medicine truly works effectively\u2014it extends children’s lives, the patient has less sputum, and the frequency of infections decreases.<\/p>\n
How does the frequency of infections decrease or the quality of life improve after taking these medications?<\/b><\/p>\n
Until now, people with a diagnosis of cystic fibrosis lived the longest in Central Europe and America\u2014until about age 40. With the new medications, life can be extended to 60 years, and this is enormous progress. Lung function remains stable or is damaged much more slowly, and the patient essentially gains years of life.<\/p>\n
We see that the frequency of infections decreases, including chronic ones. For example, after the implementation of gene therapy, the need for hospitalization due to exacerbations in Germany decreased by about 80 percent. So, this medication truly acts on the symptoms, hinders the progression of the disease, and plays a truly transformative role.<\/p>\n
My last question follows from your answer. While the treatment is expensive, the patient requires fewer hospitalizations and has fewer expenses. Can we say that this is more cost-effective for the state in the long run?<\/b><\/p>\n
Yes, this factor must definitely be taken into account. There are health economics studies as well, though they vary by country. Overall, in patients treated with the new medication, the need for other basic drugs decreases and life expectancy significantly increases. Unfortunately, generic forms of these new medications do not yet exist, which would significantly increase their accessibility.<\/p>\n
Ms. Dodo, thank you for the interview. To start, could you explain what cystic fibrosis is and how prevalent it is in Georgia?<\/b><\/p>\n
Thank you for the invitation. I am very glad you invited us to speak on this topic. I think raising awareness about this disease is very important. As you mentioned, cystic fibrosis itself is not a common disease; it belongs to the category of rare diseases. In Georgia, one in 3,500 newborns is born with cystic fibrosis. This is a rare genetic disease, and its main problem is that, due to this genetic defect, the thinning of mucus does not occur in the body. This mucus accumulates everywhere there is a mucous membrane. In such a thick mucosal environment, bacteria multiply rapidly, and consequently, acute infectious diseases and inflammatory processes are frequent. This causes quality-of-life issues and various severe multi-system complications.<\/p>\n
How is the disease diagnosed, and what are the main difficulties patients and their families face in daily life?<\/b><\/p>\n
Since 2012, newborn screening has existed in Georgia, which is supposed to detect this disease, and in many cases, it does. However, unfortunately, we still have patients with a late diagnosis. The needs are many because, as I mentioned, this is a progressive disease. At every stage of life, in addition to the patient needing numerous medications, constant supervision, and instrumental examinations, immense parental involvement and discipline are required. Furthermore, this disease progresses constantly, every day, and always requires a great deal of attention and medicine, which often poses both a financial and moral problem for the family.<\/p>\n
It is known that due to the unavailability of expensive medications\u2014the so-called modulators\u2014many families are forced to leave the country. How acute is the problem of emigration among patients with this diagnosis?<\/b><\/p>\n
You are right; it is a sad reality that there are parents who have to leave the country and, in most cases, emigrate to Western European countries because access to treatment is better there. Most importantly, they have access to therapies called modulators. This is a quite expensive but very effective treatment. Naturally, if you know of a place where your child can receive full-fledged treatment, you go there. I have been serving this program for the last 5 years, and during this period, 15 families have left Georgia. So, the outflow of patients is quite large, but in such a situation, it is completely logical that they choose this path.<\/p>\n
What is the current situation within the state program? We know that certain steps have been taken regarding the funding of basic medications…<\/b><\/p>\n
In 2021, our clinic took over the state program, and I personally began working in this direction. At that stage, we were lacking many things. For example, the anti-pseudomonal antibiotic Tobramycin might have existed in pharmacies, but it was not part of the program. We must draw a very clear line: accessibility is not just the ability to walk into a pharmacy and buy something. Accessibility primarily means that for such families, medications should be free within the state program. This is very important for a multi-system and progressive disease where, as time passes, more and more is needed.<\/p>\n
In 2021, accessibility was limited to only two drugs. It is very good that we had these life-saving drugs, but for 4 years, we worked very actively with the patients’ association to add more basic medications to the program. In November 2025, this became possible. We are very happy and grateful that 6 new components were added, including Tobramycin. However, of course, it doesn’t end here; we need even more. I believe that through joint work with the Ministry and by voicing the needs, we will certainly have positive results, as discussions regarding the purchase of those expensive drugs\u2014modulators\u2014are still ongoing.<\/p>\n
When a patient reaches adulthood, what challenges do they face in the healthcare system when transitioning to the adult network?<\/b><\/p>\n
It is very important that when a patient becomes an adult, this chain continues and they have a doctor who will pay attention to their special needs. I will say it again: cystic fibrosis is a very specific disease; it can involve many organs. At every stage, something new appears that we must pay attention to, and because it is a progressive disease, the condition worsens over time.<\/p>\n
If we compare Georgian and European data regarding life expectancy and adult patient statistics, what would we see? What gives us hope today?<\/b><\/p>\n
In Europe, the average life expectancy is still 42 years. I won’t name the Georgian data because our situation is quite grave, but I will simply draw your attention to the fact that in Georgia we have 80 pediatric patients and only 16 adult patients. You can understand what this indicates on its own. Proportionally, in Germany for example, adult patients are more numerous because they are given the opportunity for a full life and, with the help of these new medications, they manage to preserve not only life expectancy but also quality. For our patients, I think it was very important to meet a 63-year-old patient at this conference. This is very hopeful because we see that adult patients do exist.<\/p>\n","protected":false},"excerpt":{"rendered":"
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