This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. The document is divided into five main sections: methodology and objective; background and context; overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; recommendations; and conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups. Read the full article here.
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In this report consensus recommendations on the organization of care for individuals with PMS are proposed. It is indicated that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual’s interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders. Read the full article here.
Sweet syndrome (SS) is a rare disease described as a febrile neutrophilic dermatosis with acute onset, the pathogenesis of which has not yet been elucidated. The syndrome is characterized by the sudden onset of erythematous infiltrated papules or plaques located on the upper body and is associated with fever, leukocytosis and neutrophilia. The lesions show a dense dermal infiltration with mature neutrophils. The condition is responsive to systemic steroids. The central nervous system, bones, muscles, eyes, ears, mouth, heart, lung, liver, kidneys, intestines, and spleen may be affected by SS as extracutaneous manifestations. Up to 80% of SS cases are associated with hematological diseases, predominantly myelodysplastic syndrome (MDS). Myelodysplastic syndrome is a clonal disease of the bone marrow characterized by inefficient hematopoiesis, dysplasia of the bone marrow and peripheral cytopenias. After analyzing later studies and current practical aspects regarding MDS-related SS, in this report an algorithm for evaluating these patients is suggested. Read the full article here.
Idiopathic systemic capillary leak syndrome (ISCLS) is a rare disease characterized by recurrent episodes of acute life-threatening attacks of shock, hemoconcentration, and hypoalbuminemia. Increase in capillary permeability results in reversible plasma movement into the interstitial spaces followed by appearance of related symptoms or complications, including renal failure. This condition can be potentially life-threatening; however, it is easily misdiagnosed.
A 47-year-old man with no previous medical history presented to the emergency department after experiencing general weakness and abdominal pain. He develops hypovolemic shock within 3 h of presentation and initial laboratory tests showed hemoconcentration, hypoalbuminemia and acute kidney injury. Following vigorous fluid therapy and supportive care, the patient recovers, but a similar episode recurrs after 4 months without any specific trigger. Based on the combined clinical manifestations and laboratory findings of both the attacks, he is diagnosed with ISCLS. Symptomatic relief is achieved via oxygen supplementation and massive volume replacement using normal saline and the patient is prescribed bambuterol 10 mg and theophylline 400 mg once-a-day. He is discharged from the hospital on day 5 of hospitalization. Thereafter, the patient is being followed for 5 years without any symptoms or recurrence of ISCLS even in the situation of COVID-19 infection.
ISCLS is an extremely infrequent and commonly misdiagnosed disease. However, early diagnosis, treatment and prophylaxis through accumulated clinical data can prevent ISCLS recurrence and the development of related fatal complications. Therefore, clinicians need to be well aware of the variety of clinical characteristics and treatment options of this disease. Read the full article here.
Advances in the study of ultra-rare genetic conditions are leading to the development of targeted interventions developed for single or very small numbers of patients. Due to the experimental but also highly individualized nature of these interventions, they are difficult to classify cleanly as either research or clinical care. The goal of this report is to understand how parents, IRB members, and clinical geneticists familiar with individualized genetic interventions conceptualize these activities and their implications for the relationship between research and clinical care.
In this report, qualitative, semi-structured interviews with 28 parents, IRB members, and clinical geneticists are conducted, and themes from those interviews through content analysis are derived.
Individualized interventions aimed at one or few patients reveal the limitations of a binary framing of research and clinical care. As a hybrid set of activities, individualized interventions suggest the need for flexibility and new frameworks that acknowledge these activities across the spectrum of research and clinical care. Read the full article here.
Kikuchi disease (KD) is a benign self-limiting rare disease with unknown etiology. Prolonged fever with tender neck lymphadenitis is the most common presentation. Blood tests are not specific, and the final diagnosis is by biopsy. In this report two patients, ages seven and twelve years, who present with fever and neck lymphadenitis, are described. Both cases receive antibiotics for more than two weeks without improvement. Blood work shows high inflammatory markers. The manifestation of the second case overlaps with Hashimoto’s disease. The later diagnosis was confirmed by lymph node (LN) biopsy. Read the full article here.
Henoch-Schönlein purpura (HSP) is the most common vasculitis in childhood, presenting with purpura, predominantly of the lower extremities and occasionally with renal involvement as well. Although associated with childhood, HSP, although rarely, can also develop in adults as well. It this report a patient in his sixties is presented, presenting with a myriad of rash units on his lower extremities, including bullous ones, and a constellation of chronic kidney failure. Skin and renal biopsy specimens reveal morphological changes and immune depositions representative of HSP. Despite treatment, the patient’s kidney failure slowly progresses. Although rare, the bullous form of HSP can be viewed as a more aggressive form of the disease, as seen by the presentation constellation and rapid progression in this case. Read the full article here.
Myelin oligodendrocyte glycoprotein (MOG)-associated disease (MOGAD) is a rare, antibody-mediated inflammatory demyelinating disorder of the central nervous system (CNS) that has varying phenotypes. A rare case of a nine-year-old girl who presents with a drop in her academic performance and right-sided Epilepsia partialis continua is reported. Magnetic resonance imaging (MRI) of the brain detected evidence for unilateral (left) cortical encephalitis with juxtacortical edema. An electroencephalogram revealed a hemi-generalized poly spike and wave discharges in the left hemisphere, several of which correlated with myoclonic jerks. The cerebrospinal fluid (CSF) analysis was normal. Autoimmune workup resulted in a positive serum MOG-immunoglobulin G (IgG), which confirmed the diagnosis. The child showed an excellent clinical response to intravenous methylprednisolone and intravenous immunoglobulins therapy. Read the full article here.
Veselina Kmetska – winner of the audience in the photo contest “Rare Nuances in The Colours of Life”
Veselina Kmetska, medical student, 3rd year, MF under Prof. Dr. Asen Zlatarov” Burgas
1. Hello, you have been chosen as the audience winner in our “Rare Nuances in The Colours of Life” contest, how did you find out about it and what motivated you to participate?
I learned about the competition “Rare Nuances in The Colours of Life” from the Facebook page of ASM-Plovdiv. As a member of ASMB-Burgas, I follow the association’s campaigns. I really liked the idea of an exhibition dedicated to people with rare diseases and that motivated me to get involved.
2. Are you serious about photography? How did you decide which photo to feature?
I have been doing photography as an amateur for three years. In this way, I break away from the busy everyday life and enjoy the beautiful things in life. When I saw the theme of the contest, I immediately decided with which photo to participate.
3. What is the symbolism in your picture?
Symbolism of my photography – sometimes nature is very cruel to us humans, but nevertheless it gives us incredible views and colors to remind us that life is actually beautiful. People with rare diseases should know that after the strongest storms, a rainbow appears, after the hardest days – a beautiful sunset and after the darkest nights – a colorful sunrise. I believe that after every bad thing, something good happens, which gives us a sign that we should never lose hope and give up on the beauty of life.
4. What did you learn about rare diseases by participating in the competition?
From participating in the photo contest, I realized how important campaigns like this are. They inform the public about people with rare diseases, which will improve their care and treatment. Together we can improve the quality of life for these people and show them that there is hope for them and that they too deserve to be happy.
Hris-Maria Slavova, medical student, 2nd year, Medical University-Plovdiv
1.Hello, you are the big winner of our contest, how did you find out about it and what motivated you to participate?
Hello! As an active member of the Association of Medical Students – Plovdiv since my first year as a student, I have always been interested in the various initiatives of my colleagues. As soon as I found out about the Photo Contest from the then local head of the Public Health Committee (SCOPH) I was highly motivated to sign up and help. In my opinion, these diseases, although rare, should not be ignored and the opportunity to draw attention to them in such an attractive way made me embrace the idea and roll up my sleeves. The photo is a memory of a magical trip to Vienna with my colleagues and I have kept it close to my heart as something sentimental ever since. Subtly, I also invented a poem that would give my work even more meaning and show that people who embark on this adventure – medicine, do not find in it just dry facts and reference values, but immerse themselves in a world in which they can nurture their creative skills alongside developments in science.
2. Are you serious about photography? How did you decide which photo to feature?
I do photography as an amateur. I chose this photo because the butterfly for me symbolizes everything that is best in life. It begins as a pupa and through its own efforts becomes this lovely winged creature that gives us hope. Beauty heals, makes time stand still and gives us the freedom to think that there is always something in life to make you feel better and find meaning. It reminds that everything will be okay in the end.
3. What is the symbolism in your picture?
I am sure that the butterfly in my photo is a symbol of every single change that we undergo over the years and shows that with the accumulation of experience and knowledge our existence becomes more and more beautiful and meaningful. Rare diseases are the nuances in people’s lives that make it colorful and exciting. Therefore, let’s not forget that the butterfly is also a symbol of love that lives in us and accompanies us on our life’s journey, giving meaning to every single thing we do and encounter. Love is the support that the relatives give to these patients, but also the help of the medical specialists, and in this case also the students, who do their best every da
4. What did you learn about rare diseases by participating in the competition?
For a disease to be rare, it needs to occur in less than 1 in 2,000 individuals. In fact, until ten years ago, the situation in Bulgaria was not particularly encouraging for patients with such a diagnosis. With the establishment of the Institute of Rare Diseases and the National Alliance of People with Rare Diseases, as well as many other organizations, there is a positive trend in public awareness of the issue and in the possibilities of treatment and support for the sick. Celebrating Rare Disease Day is a wonderful initiative that is gradually becoming a tradition with more and more supporters.