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,” says Peter, with a serene smile throughout most of the interview. “I had pruritus, which is an uncomfortable skin irritation that causes an urge to scratch, but there really weren’t any definitive symptoms.” This lack of clear symptoms is a common challenge for those with myeloproliferative syndromes such as polycythemia vera, in which 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 overwhelmed he felt when he received the news. “The first thing that crosses a patient’s mind is, ‘What does this mean for my life?’” The word “cancer” can sound alarming, especially when it comes to a rare and chronic form of cancer. However, Peter emphasizes that, with proper care and constant medical monitoring, it’s possible to lead a nearly normal life. “There’s no need to be afraid. This disease, although chronic, can be effectively managed. The word ‘cancer’ is very scary, but we want people to know that if diagnosed early, in the hands of a good specialist, and treated properly, it’s possible to live with polycythemia vera.”
“Sharing experiences and getting emotional support is essential for coping with the day-to-day challenges of a new condition that, for someone newly diagnosed, is often unfamiliar.”
In fact, since his diagnosis, Peter has seen a positive change in the way polycythemia vera is treated. “Over the past decade, there has been a lot of innovation in terms of treatments,” he says. Although he acknowledges that there is still a lack of information and that early diagnosis remains a challenge, Peter values the progress that has been made and the improvement in the quality of life for those living with the condition. “In the past, only patients over 50 were diagnosed, but now we’re seeing more and more cases in much younger people, which means that many more tests are 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 connecting with other patients. That’s why he now chairs the Spanish Patients’ Association, the only one dedicated to this condition. “I believe in the importance of patients talking to one another,” he says. “Sharing experiences and getting emotional support is essential for coping with the day-to-day reality of a new condition that, for someone just diagnosed, is often unfamiliar.”
In this community, members are turning to digital platforms to connect with others who have been diagnosed, sharing their questions and fears, which is why they’ve created a Facebook group with more than 1,200 members. “Why me?” is one of the most common questions among those recently diagnosed. “It’s a genetic mutation that’s beyond human control,” explains Peter. “The important thing is to know that you’re not alone and that there are others going through the same thing.” To that end, the Association also organizes webinars and symposia, which serve as repositories of information and as spaces for sharing knowledge.
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 patients with polycythemia vera is the invisibility of the disease. “We’d like to get the message across that, even though it isn’t visible, the condition exists and causes problems,” Peter notes. “We need to break away from stereotypes about what a sick person should look like.” Symptoms can range from extreme fatigue that makes it impossible to lead a normal life to itching, and not all patients experience the same symptoms. This diversity makes the disease even harder to identify and diagnose.
Peter emphasizes the importance of an accurate and early diagnosis, which remains a challenge, especially in small towns where access to specialists is limited. “Not every town is like Madrid, Valencia, or Barcelona, where there are many hospitals with good doctors,” he says. “In small towns, it’s much harder to live with a disease like this.”
“You have to be very optimistic,” Peter advises. “I’ve accepted my illness as my ‘shadow friend,’ who’s always with me but doesn’t hurt me.” Accepting the illness and having a good understanding of it are key to a good quality of life. “I always say that a well-informed patient is halfway to being cured.”
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: even though myeloproliferative disorders are rare and often go unnoticed, “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 condition is well-managed, and there is an increasing amount of research into treatments. We are discovering new avenues for new medications,” Peter concludes optimistically.
