Feeling unwell and not knowing what the problem is. It is a feeling that patients with a rare disease are familiar with that is often subtle because it has nonspecific symptoms that make it more difficult to make a diagnosis. It also happens to patients with chronic myeloproliferative diseases, such as polycythemia vera and myelofibrosis, to whom the 9th World Day of Awareness on Myeloproliferative Diseases (MPN Awareness Day) is dedicated, which is celebrated on 9 September in the month dedicated to blood cancers.
What are chronic myeloproliferative diseases
Chronic myeloproliferative diseases – polycythemia vera, myelofibrosis, and essential thrombocythemia – are rare blood cancers with difficult names that most people have never heard of. They are characterized by an alteration of hematopoietic stem cells, from which all blood cells derive. At the base of these neoplasms there are non-hereditary genetic defects, among which one of the most frequent is the mutation of the JAK2 gene. The knowledge of the genetic basis of MPN has made it possible to develop molecules capable of specifically inhibiting the action of the genes responsible for the disease, thus paving the way for a new treatment approach based on molecular diagnostics.
The delay in diagnosis
Headache, itching, fatigue, weight loss are symptoms that can be traced back to many diseases, sometimes even just to strong stress. But – in some rare cases – they can be the signal of one of the myeloproliferative diseases. The very fact that these are nonspecific symptoms greatly slows down the definition of the type of disease. “Arriving late at diagnosis exposes patients to important risks, such as those related to thrombotic episodes that are typical of these diseases if not controlled”, he explains Elisabetta Abruzzese, hematologist at the S. Eugenio Hospital, Asl Roma2. “To avoid wasting further time, it is advisable that at the time of diagnosis, in addition to the blood count, a search for the mutation of the JAK2 gene, which is the most frequent genetic cause at the base of these neoplasms, is made. In this way, a targeted treatment with target therapies would be started as soon as possible “.
The video story
The difficulty of arriving at a diagnosis and the sense of disorientation that characterizes the uncertainty of these patients are told in the video ‘Return to Life’ launched on the occasion of MPN Awareness Day. The video alternates the stories of two patients with true polycythemia and myelofibrosis that clearly show the sense of disorientation due to the symptoms – headache, itching, fatigue, weight loss – apparently without cause. The video also highlights the crucial role of family and friends in these moments of discouragement and the ‘turning point’ represented by the diagnosis and dialogue with the hematologist.
“Back to life”, the emotions of patients with myeloproliferative diseases
The Mielo-Expieghi campaign
The video ‘Back to life’, produced by Filmmaster and visible on the Facebook page “MIELO-Spieghi” (https://www.facebook.com/MieloSpieghi), is part of the Mielo-Spieghi awareness campaign promoted by Novartis in collaboration with Aipamm (Italian Association of Patients with Myeloproliferative Diseases) and with the patronage of Ail (Italian Association against Leukemia, Lymphomas and Myeloma) and of the Mpn Advocates Network, which wants to provide patients with information and tools thanks to which they can be more aware and protagonists of management of the disease. “The participation that we found in the contest with ideas that also came from abroad shows how important it is for patients to promote correct information on these rare forms of blood cancers and at the same time give concrete hope: the return to life is possible, ”he comments Antonella Barone, president of Aipamm. “We have chosen the idea that best represents what happens when you receive the diagnosis and you can confidently look at the therapy to be undertaken”
The missing information
To answer the many questions that patients and their families have, the “Mielo-Expieghi” campaign includes various activities available on the Allies for Health website (www.alleatiperlasalute.it/mielo-spieghi/): a questionnaire that helps patients to be more aware of their needs and to communicate with the reference hematologist; podcasts with the stories of patients living with chronic myeloproliferative neoplasms told from their voice; three information booklets, one for each pathology (polycythemia vera, myelofibrosis and essential thrombocythemia on the way) dedicated to patients and their families and online meetings that will involve four clinical centers throughout the country, hosting the reference experts. “People living with myeloproliferative neoplasia – he says Sergio Amadori, national president Ail – often experienced uncertainty and lack of information. These are rare diseases that are rarely talked about. This is why it is essential to create awareness campaigns that focus attention on the symptoms, often common and difficult to associate with a haematological disease, and also on the active role that the patient must have ”.
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