In Europe, the United States and Japan it affects 12,000 people, one new case in a million is diagnosed every year. It is autoimmune hemolytic anemia due to cold antibodies (Cad), an ultra-rare blood disease, chronic and acquired and characterized by a dysfunction of a part of the immune system, which, through the activation of the complement pathway, mistakenly destroys blood cells red, which consequently are no longer able to transport oxygen throughout the body. The most frequent symptoms are: anemia, extreme fatigue, chest pain, difficulty breathing, weakness, irregular heartbeat, bluish color and tingling sensation in the hands and feet. The average age of patients is 76 years, while that of the onset of symptoms is 67 years. This pathology can have a significant impact on the patient's quality of life. Due to extreme fatigue people have to drastically change their daily routine. Furthermore, the journey from symptoms to diagnosis can take years and there are currently no specific approved treatments for Cad, only those that focus on symptomatic relief.
Very little is known about Cad as it is ultra-rare. And precisely to increase the knowledge of the institutions regarding this pathology, raise their awareness of the experiences of those who suffer from it and delve into the needs and needs to be filled from a clinical and management point of view, today in Rome the diary “A life without winter” with stories of patients and caregivers born from an initiative by Sanofi in collaboration with FB&Associati, and with the contribution of Cittadinanzattiva and Uniamo Italian Federation of Rare Diseases. The Diary tells of the desire of patients with autoimmune hemolytic anemia due to cold antibodies to live a better life without obstacles, isolation and disability. Not only that: in addition to the testimonies of those who are forced to live with Cad (common symptoms on a physical and psychological level, absence of specific treatments) in the volume there is also the point of view of hematologists who underline the critical issues of the treatment path, starting from late diagnosis up to the complexity of taking care of the patient.
Even today there are several unmet needs of rare disease patients with CAD – it emerged from the meeting – which are highlighted in the Diary and for which it is necessary to implement solutions, including: a commitment from the institutions to support rare patients and caregivers; increase awareness of the disease among the general population and healthcare professionals; allow timely diagnosis at the onset of symptoms and promote patient-centred clinical care; implement adequate psychological support for people with rare diseases; encourage patients and their caregivers to share their experiences through advocacy networks also to help dispel false beliefs related to Cad; support research to find innovative and decisive solutions for this ultra-rare pathology.
“Cittadinanzattiva works to raise the quality of life of patients, offering inclusive and easily accessible healthcare, through the network of the national coordination of associations of chronic and rare disease patients – states Anna Lisa Mandorino, general secretary of Cittadinanzattiva – It is essential to understand that Every individual, regardless of the rarity or severity of their health condition and the place where they live, has the right to a dignified quality of life and fair access to the care and resources necessary to manage their pathology and have adequate responses to their needs. of health including patients and family members affected by rare diseases” such as Cad.
“We cannot allow the rarity of an illness to become a reason to neglect people's rights and needs – adds Mandorino – Behind an illness there is a person, alongside a person who suffers there is a family. This diary It is an important step forward in promoting greater awareness and understanding of Cad and the challenges it poses for those affected without neglecting the impact it has on family members, on work and on personal relationships source of valuable information on Cad, but also a catalyst for positive change in the way society addresses rare diseases and protects patients' rights.”
Rare diseases are “more than 8,000, very different from each other, they have implications on people's health from the most dramatic to the mildest. But they all share the same needs – underlines Annalisa Scopinaro, president of Uniamo Italian Federation of Rare Diseases – that is , a diagnosis as early as possible, the possibility of being 'taken into charge' with a common thread by specialists who are knowledgeable and if possible experts in the pathology, the holistic vision of their needs which also includes the social and daily life aspects, equity in access to treatments, research is never enough and treatments are never conclusive enough, except in very few rare exceptions”.
Listening to the stories of the patients, of their 'rare lives', makes us “understand, like a punch in the stomach, what they really experience in everyday reality – Scopinaro remarks – despite the efforts that have been made in recent years to build a network of support and support around people with rare diseases. One of the few help comes from the patients' association built on the pathology”.
To set up an association “people throw their hearts beyond the obstacle, with altruism, merging and leaving a bit of their individuality in order to create a new entity, which can be of support to others who will gradually impact on the same path . We come together to constitute that first step that will help others to feel less alone – he concludes – to waste less time searching for solutions, to spread knowledge and raise awareness about that specific pathology. I hope that this diary, dedicated to an unknown and very rare pathology, Cad, can be a source of information for specialists, of raising awareness for everyone and of stimulus for institutions to seek, for these people too, the best paths to make their life less difficult. We have been protecting people with rare diseases and their families since 1999.”
#Autoimmune #hemolytic #anemia #diary #patient #caregiver #stories
