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Infective endocarditis is an uncommon disease but is associated with a high morbidity and mortality rate. Embolic events are frequent and life-threatening complications. In nearly half of cases, these embolic events can be asymptomatic. We report a case of a young patient admitted to our department for the management of infective endocarditis with significant mitral insufficiency complicated by multiple embolic events. [ABSTRACT FROM AUTHOR]

Malignant histiocytosis is a rare disease, characterised by a proliferation of histiocytes, which is difficult to diagnose and for which there is no standard management. We report a case of secondary malignant histiocytosis with interdigitated dendritic cells, in which diagnostic difficulties led to seven months of misdiagnosis. [ABSTRACT FROM AUTHOR]

Orbital cellulitis is a rare disease. Two anatomoclinical forms can be distinguished: a preseptal "benign" form and a retroseptal "severe" form. The purpose of this study was to analyze the epidemiological, clinical, therapeutic and prognostic profile of orbital cellulitis in a third-line Hospital in Tunis, Tunisia. We conducted a retrospective study involving 109 patients hospitalized for orbital cellulitis. Two groups were distinguished: the retroseptal cellulitis group including 42 patients (38.5%) and the preseptal cellulitis group including 67 patients (61.5%). The average age of patients was 27.1 ± 34.8 years. The sex ratio M/F was 0.84 (45.9% of male patients). Acute sinusitis was the most frequently identified portal for retroseptal cellulitis entry (35.7%, n=15), while acute dacryocystitis was the most common cause of preseptal cellulitis (23.9%, n=16). Diabetes, non-functioning eye and prior use of non-steroidal anti-inflammatory drugs were associated with retroseptal cellulitis (p=0.007, p=0.022 and p=0.014 respectively). All patients received systemic antibiotic therapy. Ten patients (23.8%) of the retro-septal cellulitis group and 5 patients (7.46%) of the preseptal cellulitis group underwent surgery. Nine cases of blindness (8.2%), a case of septic shock and a case of death were reported. Poor prognostic factors were a time of consultation > 7 days (aOR = 4.277, 95% CI = 2.504-32.426, p = 0.006) and Chandler stage>III (aOR = 7.009, 95% CI = 1.69-51.839, p = 0.029). In developing countries and especially in Tunisia, orbital cellulitis can be sight threatening or even life-threatening. Early management could lead to a favorable outcome without sequelae. [ABSTRACT FROM AUTHOR]

Erdheim-Chester disease (ECD) is a form of nonlangerhans histiocytosis mainly affecting men, whose pathophysiology is poorly understood. Clinical picture is heterogeneous. The presence of hair kidney sign on Ct scan is pathognomonic. Diagnosis is based on anatomopathological examination. We here report the case of a 50-year old patient presenting with disorders of equilibrium and slow speech as well as general health deterioration Clinical examination showed cerebellar ataxia. Radiological and pathological investigations showed aggressive systemic ECD. cladribine-based treatment was initiated with satisfactory outcome. ECD is an extremely rare disease. Systemic forms are generally associated with poor prognosis and are refractory to treatment, unlike in the case of our patient who was treated with cladribine with good outcome. [ABSTRACT FROM AUTHOR]

Résumé: Autrefois considérée comme une maladie rare, l'œsophagite à éosinophiles (EoE) suscite depuis une vingtaine d'années un intérêt croissant et est devenue l'une des affections les plus couramment diagnostiquées au cours de l'endoscopie digestive haute pour dysphagie chez l'enfant et l'adulte. La physiopathologie de cette affection est complexe et regroupe plusieurs mécanismes, notamment une réponse immunitaire anormale vis-à-vis d'antigènes environnementaux, une altération et fibrose de la muqueuse œsophagienne. Le diagnostic d'EoE est à la fois clinique avec dysfonction œsophagienne et histologique avec une infiltration de la muqueuse œsophagienne par les polynucléaires éosinophiles. L'arsenal thérapeutique pour traiter cette maladie est relativement large : règles hygiéno-diététiques, traitements pharmacologiques tels que les inhibiteurs de la pompe à protons et corticoïdes topiques, mais aussi les anticorps monoclonaux, en cours d'étude. L'endoscopie occupe également une place de choix dans la prise en charge thérapeutique avec une innocuité bien établie, notamment dans les formes fibro-sténosantes où l'efficacité des traitements pharmacologiques est souvent mise en défaut. Enfin, l'endoscopie a également un intérêt dans le suivi de la maladie avec un score de référence endoscopique « EREFS » (pour Exsudats, Anneaux, Œdèmes, Sillons et Sténoses) utilisé comme outil standardisé pour mieux évaluer et surveiller la maladie. Nous nous intéresserons ici particulièrement au rôle de l'endoscopie dans le diagnostic, le traitement et le suivi de l'EoE. Previously considered as a rare disease, eosinophilic esophagitis (EoE) has aroused growing interest over the past twenty years and has become one of the most currently diagnosed disease during upper digestive endoscopy in the context of dysphagia in children and adults. The pathophysiology of esophagitis is complex and involves several mechanisms, including, an abnormal immune response to environmental antigens, alteration of the esophageal mucosa, and the development of fibrosis. The diagnosis of EoE is both clinical with esophageal dysfunction and histological with infiltration of the esophageal mucosa by eosinophilic polynuclei. The therapeutic arsenal to treat this pathology is relatively broad and calls upon hygienic-dietary rules, pharmacological treatments such as proton pump inhibitors and topical corticoids, and also monoclonal antibodies currently under studies. Endoscopy also occupies an important role in therapeutic management, particularly in fibro-stenosing forms of EoE where the efficacy of pharmacological treatments is often challenged, with well-established safety. Finally, endoscopy also has an interest in the follow-up of the disease with an endoscopic reference score which is EREFS (exudates, rings, oedemas, furrows and stenoses) used as a standardized tool to better evaluate and monitor EoE. Here we will focus on the role of endoscopy in the diagnosis, treatment and follow-up of EoE. [ABSTRACT FROM AUTHOR]

Sacrococcygeal chordoma is a rare disease. It has been described in less than 3% of cases. We here report the case of a female patient with locally advanced sacrococcygeal chordoma treated at the Oujda Regional Oncology Center in Morocco. The treatment was based on exclusive radiotherapy; surgical resection couldn't be performed. At 2-year follow-up the tumor is clinically and radiologically stable and general condition of the patient is good. [ABSTRACT FROM AUTHOR]

Stiff person syndrome (SPS) is a rare disease affecting the central nervous system which can be autoimmune, paraneoplastic or idiopathic in origin. Its typical classic presentation is characterized by progressive stiffness of the trunk and limbs, associated with spasms. The diagnosis is supported by the existence of continuous and spontaneous muscle activity on electroneuromyogram detection, the presence of serum anti-GAD antibodies, and a response to benzodiazepines. We report the case of a 46-year-old patient with a classic form of autoimmune stiff person syndrome associated with dermatitis herpetiformis. [ABSTRACT FROM AUTHOR]

Rare diseases are a special category of pathology recognized as such relatively recently, starting about 30 years ago in the USA and around the year 2000 in Europe. Rare diseases are clinically and therapeutically heterogeneous, being characterized by a number of common aspects that have a negative impact on patients’ evolution and quality of life, such as: delayed diagnosis, limited scientific knowledge about some of them, lack of treatment or limited availability of treatment. At the same time, information campaigns on rare diseases are limited, and the number of association of patients that promote their interests and rights is also reduced. The quality of physician- patient relationship is particularly important in the management of rare diseases, non-medical aspects, especially the ethical and moral aspects, being often more relevant to patients than the medical aspects. The ethical framework for the analysis of rare diseases encompasses a number of particular aspects, generated on the one hand by the need to properly approach patients suffering from rare diseases in the context of rising expectations for the medical system, and on the other hand, the pro-profit behavior of the pharma companies. This paper analyzes the particular ethical issues identified in the clinical approach on rare diseases, with a focus on the particularities of the physician-patient relationship in this context.

Technical and pharmacological revolution in contemporary medicine has not resolved the ethical problems that seem to be more relevant today than ever before. Most of the papers that concern medical ethics focus on `great' problems, such as human genome sequencing, organizms cloning and quantitative or qualitative interference with life creation. This article, however, describes practical ethical problems that the doctors face in every-day practice. First of all, the problem of how thestandards of prophilaxis and treatment should be established when the costs exceed financial possibilities of a health system. Secondly, how to face the problem of rare diseases when the cost of a single patient treatment may be equal to the whole medical department budget. Thirdly, how to procede with elderly patients with multiple diseases qualified for invasive procedures. All of these examples share the common base: in these cases the technical equipment is at our disposal, yet we cannot or we do not want to use it.

Carotid-cavernous fistula is an abnormal communication between the carotid artery and the cavernous sinus. It is most commonly due to congenital arteriovenous malformations but it can also be caused by a trauma. It is a rare disease which can give rise to visual and life-threatening consequences. We here report the case of a young female patient aged 34 years who had been victim of road accident with craniofacial and lower limb trauma two years before her admission. Left exophthalmos with slowly progressive evolution occurred one year after road accident without other associated signs, revealing left carotid-cavernous fistula. What is peculiar about this case is the relatively long delay between the trauma, the onset of exophthalmos and the diagnosis of posttraumatic carotid-cavernous fistula. [ABSTRACT FROM AUTHOR]

Meckel's diverticulum is the most common congenital anomaly affecting the gastrointestinal tract resulting from failure of involution of the omphalomesenteric duct. This anomaly is most often asymptomatic and may be revealed by a complication, such as intussusception. This study reports the diagnostic pathway and the management of an 18-year-old female patient admitted to the Emergency Department with ileoileal invagination due to Meckel's diverticulum complicated by occlusion. This study is interesting because it provides an overview of this rare disease whose diagnosis, based on abdominal scanner, must be made early in order to prevent small bowel perforation or necrosis. Bowel resection without desinvagination is the gold standard treatment. [ABSTRACT FROM AUTHOR]

Limbic encephalitis (LE) is a rare disease often of paraneoplastic origin. It is frequently associated with bronchopulmonary cancer. Diagnosis is based on brain magnetic resonance imaging (MRI). We here report the case of a 54-year-old female patient with a history of active smoking, presenting with chronic dry cough. Chest X-ray showed suspicious right lung opacity. Bronchial fibroscopy and bronchial biopsies were not contributory. Thoracoabdomino-pelvic computed tomography (CT)-scan and brain CT-scan showed a mass in the right upper lobe classified as T4N2M1a. CT-guided lung biopsy confirmed the diagnosis of bronchopulmonary adenocarcinoma. The patient had reported a recent history of memory disturbances associated with depressed mood, anxiety and paroxysmal confusion. Metabolic screening and tests for detecting infection were normal and brain MRI suggested limbic encephalitis. The evolution was characterized by rapid disease progression; the patient died in about ten days. [ABSTRACT FROM AUTHOR]

Retroperitoneal fibrosis (RPF) is a rare disease characterized by the formation of a fibroinflammatory plaque in the retroperitoneal space in front of the abdominal aorta. It is responsible for the sheathing of the ureters. It is characterized by unspecific clinical signs, and it is often detected based on obstructive uropathy. We conducted a retrospective, descriptive study in the Department of Urology B and in the Department of Nephrology of the Ibn Sina University Hospital over a period of 10 years from January 2006 to December 2016. The study enrolled 18 patients, including 11 men and 7 women, with an average age of 51.4 years ± 11.2. Diagnosis was based on lumbar pain in 14 patients. Obstructive renal failure was reported in 15 patients and the diagnosis of RPF was based on uroscanner. Etiological assessment revealed 2 cases with a history of neoplasia, 2 cases of inflammatory disease and 1 case of retroperitoneal surgery; chronic drug intake was noted in more than half of the patients. In all patients, treatment was based on double J stent placement, while systemic treatment with corticosteroids and immunosuppressants was used on the basis of the evolutionary profile. Ureterolysis was immediately performed in 3 patients. Outcome was favorable, with significant improvement in renal function in 12 patients. A relapse occurred in 2 patients after 2 years of follow-up. Retroperitoneal fibrosis (RPF) should be suspected in patients with general signs associated with obstructive renal disease. Secondary causes should be systematically investigated, with particular emphasis [ABSTRACT FROM AUTHOR]

Mixed connective tissue disease (MCTD) is a rare autoimmune condition. Since its first description 50 years ago, its mere existence has been debated, given that it shares features of other autoimmune diseases, such as systemic lupus erythematosus (SLE), systemic sclerosis, inflammatory myopathy, rheumatoid arthritis and Sjogren's syndrome. Also, while antibodies to U1-RNP are essential for the diagnosis of MCTD, these antibodies may be expressed in other circumstances, such as in case of SLE. Nevertheless, the patient fulfilling criteria for MCTD needs specific management. In this review, we describe the clinical features and the potential complications of this complex disease, often wrongly disregarded as benign. We will also emphasize the recommended follow-up exams and address treatment, which is currently lacking formal recommendations., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Mirror syndrome or Ballantyne syndrome is a rare disease, characterized by the association between fetal anasarca and maternal generalized edema. This may be complicated by pre-eclampsia. The purpose of this study was to highlight the diagnostic and therapeutic features of this severe clinical entity, which, despite its rarity, should be suspected. We here report the clinical case of a 35-year-old parturient woman at 26 weeks of amenorrhea presenting to the Emergency Department with idiopathic mirror syndrome whose progression was rapidly marked by the occurrence of intrauterine fetal death and remission of maternal clinical-biological symptoms, once uterine vacuity was obtained. Indeed, a specific treatment in uterus is necessary, although in some severe idiopathic cases, only uterine vacuity can improve maternal and fetal prognosis. [ABSTRACT FROM AUTHOR]

Pneumoperitoneum, in the majority of cases, is caused by a perforation of the gastrointestinal tract whose treatment is usually surgical. It rarely occurs spontaneously. This study reports an unusual presentation of pneumoperitoneum which has put the surgeon in a massive diagnostic and therapeutic dilemma. We report the case of a 77-year old patient with spontaneous pneumoperitoneum evolving during non-operative treatment. We here discuss the management procedure for this uncommon disease. [ABSTRACT FROM AUTHOR]

Antiphospholipid syndrome (APS) is a rare autoimmune disease characterized by recurrent arterial and venous thromboembolic events. Renal complications occur in 3 % of patients. Renal artery stenosis is the most common, and APS-related nephropathy is the predominant microvascular complication. APS nephropathy has heterogeneous manifestations ranging from hematuria and non-nephrotic range proteinuria to hypertension and multi-organ failure caused by catastrophic antiphospholipid antibody syndrome. Anticoagulation and thromboprophylaxis are key to management. Immunosuppression has been used with some success but lacks randomized controlled trial validation for their use., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêt en relation avec cet article.

Langerhans cell histiocytosis (LCH) is a disease whose physiopathology remains unclear, involving both inflammatory processes and clonal proliferation. It is observable at any given age, although about ten times more frequent in children than adults. Hepatic involvement is not rare, mostly part of a systemic disease, and linked to a poor prognosis. We report here a case of LCH with solitary hepatic involvement in a 74 year-old patient. This case demonstrated molecular anomaly of the MAPK pathway, BRAF N486_P490del. Through this observation, we precise the epidemiological and histological aspects and diagnostic criteria of this rare disease., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

The sequential effects of romosozumab and denosumab in osteoporosis are shown in real-life, while the mechanisms of post-denosumab rebound are reviewed extensively. A network meta-analysis confirms the superiority of anabolics vs anti-resorptives on fracture reduction, while the latter shown a reduction of mortality in a large population-based study. Fracture risk prediction by FRAXPlus is improved. New meta-analyses confirm the benefits of Vitamin D on fractures and falls. Finally, multiples trials with new molecules for the treatment of rare bone diseases, including osteogenesis imperfecta, fibrous dysplasia and hypoparathyroidism, shown promising results., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Albright's hereditary osteodystrophy is a rare disease, characterized by phosphocalcic balance abnormalities related to peripheral resistance to parathyroid hormone. It is an hereditary affection with autosomal dominant inheritance pattern caused by mutation in GNAS gene1. It combines specific morphotype, subcutaneous calcifications, bone and renal resistance to parathyroid hormone. We report a new case of Albright's hereditary osteodystrophy in a 9-month old infant followed up for significant hypocalcaemia which occurred at 10 days of life. The purpose of this study was to remind clinicians of the clinical, biological, genetic and therapeutic features of this disease. [ABSTRACT FROM AUTHOR]

Thyroid abscess is a very rare disease due to its anatomical position and the physiology of the gland. It most often occurs in the immunosuppressed population. The diagnosis is easy and is based on ultrasound. However it is often unrecognised. Bacteriological examination allows to identify the germ responsible for this condition. We report the case of a Mauritanian patient living in the said country presenting with painful cervical swelling associated with fever. The diagnosis was based on ultrasound and confirmed by fluid examination. Bacteriological assessment didn't identify the cause of this condition. Patient's outcome was marked by regression of symptoms under antibiotic therapy, with normalization of the gland structure after two months. [ABSTRACT FROM AUTHOR]

Neuroendocrine tumors of the cervix are rare accounting for only 0.9-1.5% of these tumors. The non-specificity of the clinical signs and the absence of a screening test delay diagnosis. Immunohistochemical and histological studies play a crucial role to confirm the diagnosis. Today, therapeutic management is difficult and prognosis is unfavorable. We report a case of neuroendocrine tumor of the cervix and we will outline the peculiarities of this rare disease. [ABSTRACT FROM AUTHOR]

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Introduction: esophageal cancer is rare. Poor prognosis is due to delayed diagnosis. Five year survival is less than 20%. This study aimed to investigate the factors associated with survival of patients with esophageal cancer in Cameroon. Methods: we conducted a prognostic study in the General Hospitals in Yaoundé and in Douala over a period of 11 years from 1 January 2005 to 31 December 2015. The parameters studied were those associated with survival. Survival was established on the basis of the date of diagnosis and of the date of death or of the last visit. SPSS software (Statistical Package for Social Sciences) version 23 allowed for data analysis. Kaplan Meier curve was used to estimate the survival function. Log RankTest allowed for comparison among the different groups. Cox regression helped to highlight the different factors associated with it. Significance level was set at 0.05. Results: we collected data from 49 medical records. The average age of patients was 57.83 years. There was a male predominance (71.4%; n=35) with a sex ratio of 2.49. The follow-up period was 3.2 months. Median survival was 6.67 months (CI 95% [1.33-10.4]) and the average survival time was 7.99 months (CI 95% [4.42-11.17]). Multivariate-adjusted analysis showed that stage IV was a predictive factor of mortality (HR = 2.79; CI95% [1.13-6.89], p = 0.025]). Conclusion: esophageal cancer is a rare disease with poor prognosis. Prognostic factor is the tumor stage. [ABSTRACT FROM AUTHOR]

Malignant renal epithelioid angiomyolipoma (EAML) is a rare disease which has long been considered a hamartomatous lesion. Positive diagnosis is purely based on immunohistochemical investigation. Microscopically, it is characterized by mononuclear epitheli oid cells showing a clear cytoplasm with severe cytonuclear atypies and expressing smooth muscle cell markers and melanocytic markers (HMB 45). We here report a rare case of EAML diagnosed after anatomopathological examination of a retroperitoneal tumor whose origin wasn’t predetermined by CT scan. [ABSTRACT FROM AUTHOR]

Introduction: rare diseases have, in certain cases, oral manifestations. These are often understudied; this helps to limit oral care services to this category of patients. This study aims to determine the epidemiology and clinical features of oral manifestations in patients with rare diseases in our environment. Methods: we conducted a cross-sectional descriptive study in two referral hospitals in Yaoundé over a period of 7 months. Data were collected from patients' medical records, parents' or guardians' interview and oral examination. The threshold significance level was p< 0.05. Results: oral manifestations associated with rare diseases vary based on the group of conditions, teeth and often have functional consequences. Functional impairment was diagnosed in 97.2% of cases. Patients with deciduous dentition (59.4%) most commonly developed anomalies of tooth shape and position (conicity 7/22 cases, 32%) while patients with permanent teeth most commonly developed carious lesions (7/10 cases, 70%) and anomalies in tooth structure (4/10 cases with dental wear). A significant link between type of tooth, anomalies in tooth structure (p=0.001) and tooth numbers was found (p=0.018). Mastication problems (p=0.023) as well as suction problems (p=0.033) were linked to rare disease patient groups. Conclusion: oral lesions in patients with rare diseases, although present in our environment, are often neglected. Oral care should be integrated within the basic package of oral health care trainings after the establishment of free or affordable health care for patients with disabilities or with specific needs. [ABSTRACT FROM AUTHOR]

Studies that focus on the translation of biomedical texts often do not address issues of cultural nature. However, references appear in these texts to specific aspects of the socio cultural context in which they are generated. The aim of our study is to analyse the strategies followed to translate the cultural aspects encountered in a corpus of French texts on neuromuscular diseases that has been translated into Spanish. The references that have been identified are classified, analysed and the proposed translations are justified. This study will help to provide data on a new aspect in relation to the difficulties of translation of biomedical texts.

The transition from pediatrics to adult wards concerns all chronic diseases with a pediatric onset, but there are a number of specific features in the case of severe forms of hereditary epidermolysis bullosa: worsening wound surface and chronicity with age, appearance or increase in certain complications (carcinological, renal, nutritional, dental), sometimes difficult therapeutic choices, sometimes life-threatening prognosis. But one of the major problems limiting the patient's autonomy is the difficulty of finding a paramedic to take over skin care, often provided from birth by a parent who has become a caregiver through necessity., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Management of head and neck tumors is complex because of multiple anatomical locations and histologies possibilities. Rare tumors must be managed in a specialized center and be registered in the French network of expertise on ENT Cancers (Refcor). Despite heterogeneous levels of evidence, radiotherapy plays an essential role in their treatment. Radiation therapy is generally indicated in the adjuvant setting, or in case of non-operability. Dose and target volumes depend on histology, location and extensions of the tumor, and the quality of the excision if applicable. We present here a review of the literature and available guidelines for the management by radiotherapy of rare upper aerodigestive tract tumors., (Copyright © 2023. Published by Elsevier Masson SAS.)

The article focuses on exploring the missions and annual conference of the Francophone Mother and Child Network (RMEF), highlighting the recent colloquium's theme on chronic and rare diseases' care quality. It delves into RMEF's role in enhancing multidisciplinary approaches to maternal and child healthcare across Francophone countries, fostering collaboration, knowledge sharing, and innovation among healthcare professionals.

Among the 16,000 new cases of malignant tumors of the head and neck diagnosed in France each year, 10% are not conventional squamous cell carcinomas. These so-called rare cancers are distinguished by their presentation and patterns of failure, which is important to recognize in order to offer specific adapted management and maximize the chances of tumor control. These cancers can be rare by their histology, which determines their local invasiveness, and their hematogenous/nodal spread. Their diagnosis can be difficult and often requires comprehensive immunohistochemistry and genomic techniques. Expert pathology review is recommended in the cases of undifferentiated tumors, sarcomas and at the slightest diagnostic doubt. These rare cancers can also be rare by their anatomical location when arising from the paranasal sinuses, salivary glands and ear. Their location requires knowledge of their specific extension routes, and may call for a specific surgical technique (skull base endoscopic sinus surgery, extended total parotidectomy, etc.) and adapted radiotherapy to spare healthy organs surrounding the tumor. This article (part 1) discusses the diagnostic and therapeutic specificities of these rare cancers, and develops the recommendations of the French ENT Cancer Expertise Network (REFCOR) concerning rare epithelial tumors, i.e., salivary tumors, sinonasal tumors, variants of conventional squamous cell carcinomas, neuroendocrine carcinomas, malignant odontogenic tumors, and ear tumors. A second article (part 2) is focused on non-epithelial tumors (sarcomas, mucosal melanomas, lymphomas, tumors of uncertain or undetermined malignancy) and describes the organization and missions of the REFCOR., (Copyright © 2023 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

In response to the challenges posed by rare diseases, some developed countries have set up regulatory frameworks since 1980s. Should developing countries follow suit? This article argues that the limited resources of a developing country, although a major factor for carefully considering just distribution of health spending, should not be used as an excuse to reject the need for such a regulatory framework. It provides both policy and legal arguments for establishing such a framework in developing countries. It also reports the recent development of rare disease legislative efforts by local authorities in China, explains the reasons of a new de finition of rare diseases adopted, and elaborates the necessary blocks inan integrated rational framework for rare diseases suitable for China.

The Ministry of Health’s announcement of a National Orphan Drug Framework on 3 October 2012 was the first federal public acknowledgement of orphan drugs since the 1997 Drugs Directorate (DD) policy statement. The reform primarily announced an Orphan Drug Policy for Canada. This paper explains why the government decided to make this announcement now. Media and Parliamentary documents were analyzed for their use of symbols, numbers, and language in causal stories told by political actors. The initial story was that Canada’s population was too small and the cost too high for an orphan drug policy. Over the next fifteen years, a powerful interest group, the Canadian Organization for Rare Disorders (CORD), mobilized the rare disease community into a cooperative effort that generated collective action. They redefined the DD story from one of natural causes, to inadvertence, and finally to intentional causation. Their story invoked a federal response because it blamed the government directly for not acting on behalf of the 3 million Canadians with rare diseases, when patients in other countries were receiving better care. En annonçant le 3 octobre 2012 un Cadre National pour les Médicaments Orphelins, le Ministère de la Santé a mentionné pour la première fois publiquement les médicaments orphelins depuis l’énoncé de politique sur la Direction des Médicaments de 1997. La réforme a principalement consisté en l’annonce d’une Politique des Médicaments Orphelins pour le Canada. Cet article explique pourquoi le gouvernement a décidé de faire cette annonce aujourd’hui en analysant les symboles, chiffres et discours utilisés dans les représentations causales des acteurs politiques. La représentation causale de départ disait que la population du Canada était trop petite pour pouvoir s’offrir une politique de médicaments orphelins (cause naturelle). Au cours des quinze années suivantes, l’Organisation Canadienne pour les Maladies Rares (CORD en anglais, l’organisation n’existe apparemment pas en français), qui est un puissant groupe d’intérêts, a su fédérer la communauté d’individus intéressés par les maladies rares en un effort commun qui a débouché sur une action collective organisée. Cette action a transformé la représentation causale de la constitution de la Direction des Médicaments, l’histoire d’origine en termes de causes naturelles devenant une une histoire d’inadvertence, puis d’intentionalité. Leur récit a suscité une réponse fédérale car il mettait en cause de manière directe le gouvernement pour n’avoir pas su agir en faveur des trois millions de Canadiens souffrant d’une maladie rare alors que leurs équivalents à l’étranger recevaient des soins mieux adaptés.

Competing Interests: S. Skopinski déclare participer à des interventions ponctuelles pour LEO Pharma et Bayer et avoir été prise en charge à l’occasion de déplacement pour congrès par LEO Pharma, Bayer, BMS.