Starting with needs, the invisible red thread linking rare bone diseases with breast cancer
Each person gets what he or she needs. From bone diseases to Breast Units, increasingly important tailor-made responses according to need
Key points
Sometimes, in medicine, there are apparently distant conditions that share paths and needs. Thus, a common thread is created, capable of uniting in the response to women and men facing a pathology responses that are only apparently different, but similar in substance. In this light, in some ways, rare bone diseases (more than 500) represent an issue to be resolved for the future. And the reality of the Breast Units, present in about 80% of oncology facilities, represents a model of optimal integration of competences in favour of patients. In short, sometimes care runs parallel tracks, even if apparently distant.
The Bone Disease Patient Appeal
Early diagnosis and tailor-made treatment to reduce the risk of worsening symptoms, progressive disability and a highly negative impact on the quality of life, which is compromised. This is the basis for the 'call' of patient associations for joint action between clinicians, patients and institutions that comes from a conference in Rome, organised on the occasion of the International Day of Rare Bone Diseases. The call was launched by Aisfos (Italian Association of Patients with Rare Phosphate Metabolism Disorders), Api (Association of Hypophosphatasia Patients), Appi (Association for Patients with Hypoparathyroidism), Associazione osteogenesi imperfetta, Acondroplasia insieme per crescere, Aisac (Association for the Information and Study of Achondroplasia).
'Today, primary and secondary prevention is the most effective tool against rare bone diseases,' emphasises Maria Luisa Brandi, president of Firmo, the Italian Foundation for Research on Bone Diseases. 'Where correct lifestyles, calcium and vitamin D intake, avoidance of smoking and alcohol, and regular physical activity are not enough, then regular check-ups by the right specialists are the trump card.
The value of early diagnosis
Riconoscere presto il quadro permette di controllare o ridurre le conseguenze a lungo termine di queste patologie, come deformità scheletriche, fragilità ossea aumentata, dolore cronico, rallentamento o arresto della crescita e complicanze associate ad anomalie cardiache, neurologiche o gastrointestinali. «Inoltre, il ritardo diagnostico impedisce l’accesso tempestivo a terapie specifiche e a un supporto adeguato, peggiorando il carico fisico, psicologico e sociale su pazienti e caregiver – conferma Brandi -. Purtroppo, però, quando la malattia viene riconosciuta sono spesso già trascorsi 10 o 15 anni dall’esordio dei sintomi. In Italia abbiamo strutture all’avanguardia nella gestione di queste patologie: siamo stati i primi al mondo a rendere disponibile gratuitamente il test diagnostico per l’ipofosfatasia, una condizione caratterizzata da bassi livelli di fosforo nel sangue. Riconoscere queste condizioni non è semplice: spesso i medici non dispongono delle conoscenze specifiche necessarie,
Positive models, the value of Breast Units
In Italy, 80% of oncology centres have a Breast Unit for the multidisciplinary treatment of breast cancer. Across the entire country, there are 280 of these healthcare facilities and six out of ten deal with more than 200 new cases each year. Overall, all Units must guarantee healthcare for the 925,000 women in Italy living with a diagnosis of breast neoplasia. The data come from the conference 'Breast Units for the Wellbeing of Patients' organised by the Foundation for Personalised Medicine (Fmp).
