Alfred Papuçiu: The Day against Thalassaemia May 8th...

The Day against Thalassaemia May 8th, and the Advancements in the Diagnosis and Treatment of the Genetic Diseases

By Alfred Papuçiu*

Every 8th of May, the western world offers a tribute to the fight against Thalassaemia, the disease, which in the 20th & 21st Century, spread all over the globe. On this day we commemorate all those children, adolescents and adults who fought and continue to throughout time, regardless of their country. Their example and the progress accomplished recently in the diagnosis and treatment of this genetic disease gives us hope that soon a cure against Thalassaemia will be found.
    
As a member of the International Federation of the Thalassaemia (TIF) and an Albanian I would like that every Albanian, wherever in the world, remember the words of our Saint, Mother Teresa: “What I do it is only a water drop in the big ocean. But, if this water drop wouldn't be there then there would be no water.” Her white and blue silhouette is known all over the world and her words are often used to give hope for the future of those who suffer, who have chronic diseases, or those that do not possess naught but hope in their future. Those people are far from  the ones who need only think for themselves, for their comfort, without bothering to look around and see the ones in need, who are sick, in need of help, of a comforting word.  Yes, Mother Teresa, whose ancestors on her father's side were from Shkoder (where there is a street named after her and a monument to be raised on her memory) and whose charities go over the boards of where she is from, had virtuous teachings, which are more than meaningful in this commemoration day of May 8th.

Everyone who has followed the progress in the treatment of Thalassaemia in the last 25 years is convinced that there is a promising future. The replacements of the existing methods with the contemporary treatments: transfusion and hyper-transfusion, accompanied with the iron eliminators, such as Desferal, L-1, and lately EXJADE (developed by Novartis and its extraordinary manager, Mr. Daniel Vasella), will probably enable the successful transplants of the bone marrow, the umbilical cordon therapy, and other current therapies.

Recently, I had the honour to meet the Head of The Cooley’s Anaemia Foundation in New York. During the pleasant conversation with Ms. Gina Cioffi, she ensured me that very soon genetic therapy experiments will be carried out in Europe. This is the first step of a courageous endeavour to save the life of millions of children, adolescents and adults throughout Europe, especially in Mediterranean countries, including Albania.

Gina Cioffi is a modest but very intelligent lady, who possesses excellent communication skills, long experience and deep knowledge in the treatment of Thalassaemia.

This genetic disease spread over mostly in Italy, France, Albania, Kosovo, Greece, Cyprus, Great Britain and Arab Countries, but is present in U.S.A. and Canada, as well, due to migration.

The Cooley’s Anaemia Foundation and International Federation of the Thalassaemia (TIF), head-office located in Nicosia, Cyprus have made a huge effort with diagnosing and spreading new information for Thalassaemia, so that not only key treatment clinics are informed, but also those in the specialized sector. In these prestigious institutions, and with limited staff, there are also many volunteers, scientists and individuals, doctors from the U.S.A. and Europe, as well as from Albania. Apart from organizing seminars, they hold a broad educative program that starts from genetic counseling and prenatal diagnosis that can be given to the families so that their children can be healthy. Crucial information is also given about clinical treatments in all the forms of Thalassaemia. The information available to families through medical consultations gives them a chance to find out whether the gene has been hereditary, and what can be done to prevent future occurrences of the disease. This prenatal diagnosis is necessary and has been available since the 1970’s through advances in genetics and molecular biology.

There are three alternatives that can prevent the birth of children with Thalassaemia: annulling the marriage; the two individuals are in a non-consensual relationship; and not conceiving any children. If children have been conceived, abortion is also an available countermeasure. Although all three options can be traumatic, prevention is 100% guaranteed. However, in many countries in the world, people with Thalassaemia engage in marriage between each other and sire children. They live a normal life, are accepted by society and their vitality has increased significantly. Treatment is done through blood transfusions and eliminating the needs for iron such as EXJADE; this policy has been taken over from the Albanian government to make sure that children, adolescents as well as adults are able to continue living with this chronic disease. Although it is not a secret, famous athletes, such as previous world tennis champion Peter Sampras and famous soccer player Zinedine Zidane suffer from Thalassaemia, and lead normal and respectable lives. There are many others whose example offers encouragement to those who are diagnosed, just as they have done.

Disease management in itself can be taught, says the well-known Swiss professor Jean-Philippe Assal. As creator of the first center for curing diabetes in Europe, he became a pioneer in therapeutic education. As the president of the RFEM Foundation – Research, Capability and Patient Education - he offers his lifelong experience in assisting the patients and educating medical personnel. In his seminars of Grimenz and Zinal he often has invited Albanian professors and doctors who deal with chronically diseases. The professor Assal points out that “the patient who suffers from a chronically disease should learn to self-manage his condition in order to live a better life style. Somebody who knows how to manage their medications is able to avoid complications improves their quality of life and is less dependent on doctors“. This postulate applies to the Thalassaemic patients, who should not neglect their vital treatment, the blood transfusions. The society, doctors and psychologists should wholeheartedly offer the support to their cause.

“Cooley’s Anemia Foundation” (CAF) and  the International Federation of Thalassaemia, (TIF) are very interested in finding the most efficient ways in helping Albania treat patients with the disease not only in city areas, but everywhere where this disease of the century appears, in major or minor forms. It is impossible not to mention the dedicated work of Albanian hematologists, lab workers, and all medical personnel in general that have faced and given solutions to the problems associated with the diagnosis and medication of Thalassaemia. Their work, as well as that of the Albanian Children Foundation should be noted as exemplary. The International Federation of Thalassaemia and its president, a well-known Cyprian businessmen, Panos Englezos, a dedicated father whose son died from Thalassaemia a few years back sends praising messages to the Albanian authorities, in commendations on their campaign for battling the disease, especially in the rural areas and in the regions where this disease more common.
We are very happy knowing that Albania’s Ministry of Health has taken serious action towards the status of Thalassaemia in his own nation, especially in rural areas. Please inform us with every development that becomes available.  Thank you for your attempts. Heartfelt greetings. - Panos Englezos, president of TIF

Also, the scientific director of TIF, Dr Androulla Elefteriou, stresses this in her message:
“I expressed my gratitude for the articles written in honor of the late George Englezos, his role in the TIF and temperating the spread of Thalassemia around the world. I commend the Federation’s attempts in Albania, as well as assistance offered by Albanian businessmen and authorities. Overall, we are happy the situation in Albania has evolved to a better management of this disease in the rural areas, especially Fier. The appointment of the hematologist in Fier and the medical services provided for the Thalassaemic patients in southern Albania; show that progress has been accomplished in fighting this disease. We are positive that the Albanian government and the Ministry of Health are interested in greater care given to patients with this disease. A close collaboration between all will bring results. Well known hematologists, such as British professor Bernadette Model are ready to help Albania. She has a vast experience in better controlling the spread of the disease, and her contributions are remarkable. We promise that TIF will cooperate with WHO and its councilors. My best greetings. 

These encouraging messages are clear examples that our friends throughout the world are with us every step of the way.

Even the International Organization of Health has supported the prevention and control for Thalassaemia at the national and international level. Also, in numerous countries, through each regional bureau of the OMS, control programs have been created based on the recommendations that the organization has given. The results are impressive in many countries. 

The Albanian Diaspora, as well as a prestigious organization in Switzerland, has started their first steps into incorporating professional medical techniques in areas of Albania where treatment has not been available for children as well as adults. Let’s hope that Albanian businessmen, as well as organizations in Albania and in the Diaspora, offer their help and support to the Thalassaemia Organization at the same time, thanking those institutions and medical personnel that help patients lead a better and normal life...

*Member of the International Federation of the Thalassaemia (TIF)
  Collaborator of the Foundation on Geneva (RFEM)
  Cultural Mediator