Pectus Awareness Week started today. Cardiovascular surgeon Prof., founder of Pectus Association, which works to inform the society about this rare disease and to be in contact with patients. We talked to Mustafa Yüksel.

 

 

June 22, 2020

Selen Doğan, Ankara

 

June 22-28 this year is Pectus Awareness Week Dec. There will be many interviews and seminars throughout the week.

 

Have you heard of the Pectus Society? This is an association that operates in solidarity with patients with rib cage anomalies and to draw attention to this rare disease. Chest wall deformities are considered to be among the rare diseases and there are many types such as Jeune syndrome, Poland syndrome, sternal Decleft. Pectus is four times more common in men than in women.

 

Most of the rare diseases are genetically inherited. Again, most of them do not have a disease code; therefore, they are reported as a physical or mental disability. Therefore, it is also difficult to find disaggregated data on how rare the disease is, how many patients there are. To date, eight thousand types of rare diseases have been discovered. These diseases, about 80 percent of which occur due to genetic factors, mostly occur in childhood. It is estimated that 450 million people in the world have a rare disease.

 

The policies on rare diseases in Turkey are very weak. Studies on treatment and medications are also not very common. For this reason, they are also known as orphan diseases and their drugs are also referred to as orphan drugs. Although many meetings are held about rare diseases, their results are not reflected in the main policies.

 

The European Union has had a common rare diseases policy for two decades. in 2017, they established the ‘European Reference Networks’ system, which unites the centers for rare diseases in Europe into an online network; there were more than 2500 follow-up centers. In cases where countries are insufficient in the fight alone, they carry out guiding studies for patients by sharing knowledge and experience in this network.

 

The Chest Wall Deformities and Pectus Association, founded in the same year in Turkey, operates in Istanbul. The founder of the association is Prof. Dr. Mustafa Yuksel is an experienced cardiovascular surgeon. Prof. I asked Yüksel what I was curious about pectus and the association. If you would like to contact the association's e-mail address: pektusdernegi@gmail.com

 

Are physicians and the health sector in general knowledgeable about rare diseases in Turkey? Does the health sector know rare diseases, treatment options, medicines and supportive mechanisms well enough?

Unfortunately, it's hard to say. The education given about rare diseases in medical schools is quite limited. Patients who go to doctors with this disease find it very difficult to find centers with sufficient information about the disease. In addition, the drugs used in the treatment of these patients, devices such as supportive orthoses and vacuum devices are not included in the payback list of the Social Security Institution (SSI).

 

How “rare” is a rare disease? I think it is conceptualized as such because it is really rare, but there are hundreds of diseases in total, and this is actually a huge area of struggle and advocacy. How does this affect the treatment procedures, access to medication?

There is a feature of this disease, it is genetically transmitted, but difficult to detect at birth, due to the flexible rib cage structure of the child, it becomes apparent only at puberty, that is, at puberty, and takes its full form in adulthood. The disease remains among Decedents, pediatricians, pediatric surgeons, pulmonologists, thoracic surgeons, plastic surgeons and orthopedists. No one literally has complete information about when, how and with what to treat. The supportive mechanisms that we currently use in the treatment of these patients are outside of paying.

 

How does pectus affect a person's life?

Pectus is a disease characterized by an inward or outward deformity of the chest wall. Those that protrude outward are called pectus carinatum, that is, pigeon breasts. It does not harm the internal organs. It's just cosmetically creating discomfort. These children are not going to the pool or the sea. They stay away from physical education classes. They don't take their clothes off in front of other people. They often lead a life isolated from society. The one that is collapsed inside the pectus, that is, the Pectus excavatum, the one with the Turkish name shoemaker's chest, is able to compress the internal organs, especially the heart. Treatment needs to start earlier. In these cases, deformity can cause serious psychological distress.

 

Does it bring additional obstacles? Orthopedic disability, for example, does it accompany pectus?

This disease is also seen together with scoliosis, which is an orthopedic discomfort in 20 percent. In addition, it can also be seen together with some rare syndromes such as Marfan syndrome, Noon syndrome.

 

Are surgeries covered by social security?

Operations for this disease are within the scope of social security. It is not paid by private insurances only on the grounds that the disease is genetic.

 

What do you think is the reason why it is less common in women? Do they neglect treatment/surgery because men have less aesthetic concerns in the public sphere due to their gender roles?

We don't know exactly why it is less common in women. In people with little aesthetic concern, the disease can be ignored.

 

Can the Pectus Association provide genetic counseling to families? What kind of solidarity and cooperation is needed with other disabled non-governmental organizations to increase awareness about the disease and, if necessary, while working on legislative regulations?

Unfortunately, we cannot provide genetic counseling. We can only make referrals to the relevant genetic centers. We have received information-based support from several fraternal associations to raise awareness and promote greater recognition of the disease. I think it is necessary to cooperate with non-governmental organizations with disabilities. We are a very young association. We face difficulties even to carry out voluntary promotion of the disease to doctors, physical education instructors, sports center instructors.

 

In order for these diseases to be visible and awareness to be raised, you have taken hold of one end and founded the Pectus Association. What is the association working to change/transform?

The idea to establish an association was formed when the number of patients I operated on for this disease reached 1000. Because these people need the right information, enlightenment and guidance. Actually, my goal was to establish a research institute within the university, but it's a very long way. So I wanted to start with what I could do. The sick parents were very supportive. We have established a one-year post-study association. There are two patient relatives and three doctors on the board of directors. We aim for early recognition and early treatment of this disease. We managed to have the supporting materials used in the treatment produced in Turkey. We are trying to get them to pay back to SSI. Many disciplines need to be combined for treatment. Dec. We are trying to bring together those who are interested. Dec. We have volunteer mothers. We had a secretary who worked for two years. Now they don't. We are trying to turn our business around with donations. We have an association center in Kiziltoprak, Istanbul. We have family meetings on Wednesdays. We have volunteer employees, physiotherapists and dieticians from Acıbadem University. We had an international broadcast last month. One of our patients handles association accounting, another of our patients handles social media and brochure design, and mothers handle our associations desk, municipal and ministerial correspondence.

 

Are you aware of the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD)? In March last year, a team from the Confederation of Persons with Disabilities presented their opinion at a special session of the Committee on the Rights of Persons with Disabilities at the UN headquarters in Geneva. For the first time, our team raised the issue of rare diseases there, and through effective lobbying, the Committee asked the official delegation of the Turkish government there, “What are you doing about rare diseases?" he made her ask. What should we say about pectus when reporting?

In 2009, when I was at university, I founded the Chest Wall International Group (CWIG), which brought together 430 doctors from 52 countries around the world who mainly perform surgery and other treatments for this disease. Dec. I served two terms as president. After that, he becomes the president of a country every 2 years. We met in South Africa last year. It was to be held in Dubai this year, it was postponed due to the COVID-19 pandemic. Our president will be a pediatric surgeon from Switzerland, and our next president will be a thoracic surgeon from Brazil. I have been informed about the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD) through you. It's a very good initiative. Data on pectus originated abroad and are old. We want to do a study to determine the frequency of this in Turkey. However, it is very difficult to obtain permission for such work. We expect the support of disabled associations in promotion and research. We want to promote pectus in the reports, no one allows it, we are not allowed to collect donations. The association center rent, we want a place, we can not reach the interested parties. Pectus data are missing in Turkey. We need to do detailed work. We can only do this with personal relationships. We want to be the memory of pectus in Turkey. We are trying to make this corporate. We want to ensure the sustainability of the association without depending on people.