AOP Orphan has set itself the task of helping people with rare diseases. The personal histories of patients help us to understand their special needs in order to investigate new therapy options, develop these, and introduce them into the market.
Additionally, to the specific physical symptoms, a psychological burden might be experienced by patients with rare diseases. Topics such as social acceptance of the disease, search for adequate medical care, and quite often even material security impact their lives. Common issues encountered include access to specialized treatment centers, access to diagnostic tools and the availability of patient-friendly information. Thus, rare diseases often pose substantial challenges with respect to time, energy and money.
Elena Zagorulko, affected with Polycythaemia Vera, is chair of a patient organization engaging for information exchange.
Headache, dizziness, depression: Initially, Polycythaemia Vera symptoms tend to be unspecific in many people, which turned out to be true in my case as well. The diagnosis becomes all the more difficult because of that – in my case it took more than a year until Polycythaemia Vera was diagnosed.
I tried to continue to lead a normal life. But – like many other persons affected by this condition – I had many negative thoughts and fears. At some time, I thought I had to change things. Therefore, I founded a patient organization.
"If you have been diagnosed with Polycythaemia Vera, it is initially a shock. It is not only difficult for the patient but also for the family members. Suddenly one has to learn to live with this disease. It is a challenge."
"I wanted to experience the joy of living and have positive thoughts again. I found various means of helping myself and would like to share this experience with other persons."
Many patients affected by this condition are left alone with their diagnosis. Many of them have negative thoughts, suffer from depression and anxiety. At the same time they are insecure because they lack knowledge about the implications of the disease. Therefore, exchanging experiences with others can be very helpful.
We have frequent meetings at which the patients can share their experiences with others. Many family members accompany them. It is also important for them to ask questions. They want to know more about the disease and its symptoms. In the future we also want to invite doctors to the meetings.
"One can hardly imagine the positive emotions that emerge at the meetings. Many persons are incredibly happy they are not alone."
"Some people are able to walk through life positively soon after the diagnosis; others take more than two or three years to do so. Some people have no idea how to make it, but they want to make it. The foremost goal of our self-help group is information and the exchange of experience."
In German-speaking countries we hardly have any information about Polycythaemia Vera that has been prepared comprehensibly for the patients. This concerns not only the disease itself but also knowledge about its prevention. What can one do additionally, what are the existing risk factors?
Prof. Dr. Dominik Wolf has many years of experience in the treatment of patients with Polycythaemia Vera. The specialist in haematology and oncology speaks about the causes of the rare disease and explains the important aspects of its diagnosis.
“The patient’s blood count is of decisive importance for the diagnosis of Polycythaemia Vera. Once the blood count has changed and the patient has a markedly increased hematocrit level or other signs of elevated blood cell values, the patient should be referred to a hematologist to get the correct diagnosis, and a systematic work-up has to be initiated.”
In special laboratories, a JAK2 mutation can be analyzed by molecular-biologic methods. A JAK2 mutation in combination with an elevated haematocrit level – which is the case in 95% of PV patients – Polycythaemia Vera is very likely.
The next step is a bone marrow assessment to substantiate the diagnosis and rule out other myeloproliferative neoplasms, which may mimic Polycythaemia Vera. Further, the degree of bone marrow fibrosis is also checked. This procedure requires an experienced specialist.
"When I now see a PV patient who has just received a new diagnosis and is devastated, I tell that as a rule, there are three things to keep in mind:
1. To look forward positively - the disease is very treatable.
2. To find the best treatment possible and to look for a hematologist you trust.
3. To get informed and talk openly. One can get information via networks, above all patient networks, and also via patient events and this helps to become a competent patient. This facilitates optimum communication with the doctor in order to ultimately be satisfied in the long term and to be able to live with this chronic disease."
Polycythemia Vera is a disease of the blood-forming cells in the bone marrow. An acquired mutation in the JAK2 gene leads to a production of too many blood cells – especially many red blood cells, however also platelets or white blood cells – are formed. The blood cell production switch is always on so to speak. In general, this condition is referred to as myeloproliferation. Polycythaemia Vera is a subgroup of these myeloproliferative diseases.
Univ.-Prof. Dr. Dominik Wolf is Head of the University Clinic of Medicine V for Hematology and Oncology at the University Clinic of Innsbruck. One of his main points of focus is myeloid neoplasms (MPN and acute leukemia). Therefore, as a specialist he has many years of experience in the treatment of patients with PV. Furthermore, for several years now Prof. Wolf has been doing research on leukemia and is considered an expert in the field of tumor immunology.