An informed patient is half cured

We interviewed Peter Löffelhardt, patient of polycythemia vera and president of the Asociación de Afectados por Neoplasias Mieloproliferativas MPN, MPN Spain, on the occasion of the International Day of Myeloproliferative Neoplasms (MPN), which is celebrated this Thursday, September 12.

Peter Löffelhardt, a Swiss-born patient who has lived in Barcelona for more than 60 years, faces a daily challenge that few know about. At the age of 50, and with few warning symptoms, he was diagnosed with polycythemia vera (PV), a rare and chronic blood disease for which, to date, there is no cure and for which science still has much to discover. This condition is caused by a genetic mutation, almost always in the JAK2 gene, which affects a cell that produces red blood cells, causing an abnormal increase of red blood cells in the blood.

The clinical course of polycythemia vera is unpredictable and depends on a variety of factors beyond the disease itself. Those patients who do not develop severe vascular complications, as is the case with Peter, usually have a life expectancy comparable to that of the general population. However, the subtlety of the symptoms means that the diagnosis of this disease often goes unnoticed, and Peter's case was no exception. For him, receiving this diagnosis represented a turning point in his life.

Eventually, Peter decided to transform his personal experience into a mission to help others. In 2018, he became one of the founders and, subsequently, president of the Asociación de Pacientes MPN en España, (NMP myeloproliferation neoplasms in Spanish, MPN in English) an organization dedicated to providing support, information and accompaniment to people diagnosed with any of the three most common myeloproliferative neoplasms: polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis (MF). Under his leadership, the association has become a vital resource for many patients, offering not only medical guidance, but also a place of community and understanding for those facing these rare diseases.

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"Before my diagnosis, my life was completely normal," Peter comments, with a serene smile for most of the interview. "I had pruritus, which is an uncomfortable skin irritation that leads to a desire to scratch, but there really weren't any defining symptoms." This lack of clear symptoms is a common challenge for those with myeloproliferative syndromes such as polycythemia vera, where the bone marrow produces an excess of blood cells. Often, the disease is discovered by chance, during a routine medical exam or blood test.

Peter recalls how he felt overwhelmed upon receiving the news. "The first thing that goes through a patient's mind is 'What does this mean for my life?'" The word "cancer" can sound alarming, especially when it's a rare and chronic type of cancer. However, Peter stresses that, with proper care and constant medical follow-up, it is possible to lead a near-normal life. "There is no need to be afraid. This disease, although chronic, can be effectively controlled. The word cancer is very frightening, but we want people to know that if it is diagnosed in time, in the hands of a good specialist and treated properly, it is possible to live with polycythemia vera.

In fact, since his diagnosis, Peter has seen a positive change in the way polycythemia vera is treated. "In the last decade there has been a lot of innovation in terms of treatments," he mentions. While acknowledging that information is still lacking and early diagnosis remains a challenge, Peter appreciates the advances that have been made and the improvement in the quality of life for sufferers. "Before, only patients over the age of 50 were diagnosed, and now, increasingly, we have much younger cases, which means that much more testing is being done."

The importance of emotional support and community

For Peter, the key to coping with the disease lies not only in medical treatments, but also in psychological support and connection with other patients. That's why today he chairs the Spanish Patients' Association, the only one for this pathology. "I believe in the importance of talking among patients," she says. "Sharing experiences and getting emotional support is fundamental for coping with the day-to-day of a new condition that, for someone making his or her debut, is often unfamiliar."

In this community they bet on the digital to get closer among those diagnosed, sharing their doubts and fears, and that is why they have created a Facebook group in which there are more than 1,200 people. "Why me?" is one of the most common questions among the newly diagnosed. "It's a genetic change that is beyond human control," Peter explains. "The important thing is to know that you're not alone and that there are other people going through the same thing." To this end, the Association also organizes webinars and symposia, which serve as repositories of information and venues for knowledge sharing.

For this patients' association, there are very necessary collaborators in our country. One of them is GEMFIN(Grupo Español de Enfermedades Mieloproliferativas Crónicas Filadelfia Negativas) which represents all professionals in medicine, biology and other health disciplines involved in the study, diagnosis, treatment and research of this group of diseases. Its main objective is to bring together knowledge, clinical experience and lines of research that can improve the diagnosis, treatment and quality of life of patients with myeloproliferative neoplasms.

On the other hand, there is also the MPS Association (Spanish Association of Mucopolysaccharidosis and Related Syndromes-MPS Spain), an organization founded in 2003 to support people affected by lysosomal diseases .

Thus, and with a registry of more than 10,000 patients with myeloproliferative diseases in the country, these organizations facilitate access to information and provide a space for them to share their experiences.

Invisible symptoms and the need for public awareness

One of the biggest challenges for polycythemia vera patients is the invisibility of the disease. "We'd like to get the message across that, even if you don't see it, the pathology exists and there are problems with it," Peter points out. "We have to break down stereotypes of what a sufferer should look like." Symptoms can range from extreme fatigue that makes it impossible to carry on with normal life to pruritus, and not all patients have the same signs. This diversity makes the disease even more difficult to identify and diagnose.

Peter stresses the importance of proper and early diagnosis, something that is still a challenge, especially in small cities where access to specialists is limited. "Not every city is Madrid, Valencia or Barcelona, where there are many hospitals with good doctors," he comments. "In small towns it is much more difficult to live with such a disease."

"You have to be very optimistic," Peter advises. "I have accepted my disease as my 'shadow friend,' who is always with me, but doesn't hurt me." Acceptance of the disease and a good knowledge of it are key to a good quality of life. "I always say that a well-informed patient is a half-cured patient."

For patients, polycythemia vera is a reality they live with every day. However, thanks to advances in research and community support, it is possible to lead a full and satisfying life.

The message is clear: although myeloproliferative diseases are rare and often invisible, "with the right support, a positive attitude and a proactive approach, it is possible to live well and maintain a good quality of life. The pathology is very well controlled and there is more and more research into treatments. We are discovering new avenues for new drugs," Peter concludes optimistically.