Rare Diseases: Small Numbers, Big Impact:
Individual Rare, Collectively Common - What is a Rare Disease
Rare diseases may be uncommon individually, but together they affect more than 300 million people worldwide, touching every society and community. These conditions influence people at all stages of life, from children needing specialized medical care to young individuals balancing treatment with education and adults managing work and family responsibilities while living with often misunderstood symptoms.
Rare Disease Day 2026 wants to highlight that the impact of rare diseases goes far beyond health. They shape daily life, affecting education, employment, emotional well-being, family relationships, and social participation, while calling for greater awareness, understanding, and support for those affected.
Knowledge and Care for Rare Diseases
Misdiagnosis and treatment delays can result from relatively common symptoms that conceal underlying rare diseases. Since healthcare professionals cannot be trained in every rare disease, it is crucial to have a general understanding of rare diseases. This entails identifying the symptoms of a rare disease in a patient and knowing how to refer them to a specialist for appropriate diagnosis, treatment, and support.
People with rare diseases require care plans, medication evaluations, mental health reviews, family planning counsel, and an overview of research options, much like those with cancer or other complex medical conditions. In the end, regardless of how uncommon their ailment may be, every patient deserves care.
Know About the Role of Genomics in Rare Disease
People living with rare diseases and their families are often faced with a range of obstacles when it comes to healthcare.
As about 80% of rare diseases start in childhood, parents, especially women, assume the primary caring role, with an impact on the financial and emotional health of the whole family. One major factor in the financial cost of rare diseases is the loss of productivity at work experienced by those who have the disease and their caregivers.
Approximately 75% of rare diseases first manifest in childhood, and more than 30% of children with rare diseases pass away before they turn five years old. Newborn screening checks for specific rare diseases. to help avert severe disability or even death. However, there are significant differences between countries in the number and types of disorders that are screened for in national newborn screening programs. For example, the UAE screens for ten inherited disorders, the UK screens for nine rare diseases, and Italy screens for more than 45 of them.
Rare diseases fall into four major categories: single-gene, multifactorial, chromosomal, and non-genomic. About 20% of rare diseases arise from immune system problems or infections. However, the majority are brought on by genetic changes that may be inherited or may have arisen in the individual for the first time (de novo). The “Emirati Genome Program” investigates the genetic composition of Emiratis to understand rare genetic illnesses better, develop novel therapies, and enhance the general health of the Emirati population.
Living With a Rare Disease
People living with rare diseases and their families are often faced with a variety of challenges when it comes to healthcare.
As approximately 80% of rare diseases start in childhood, parents, especially mothers, assume the primary caregiving role, with an impact on the financial and emotional health of the whole family. Workplace productivity loss for people living with a rare disease and caregivers significantly contributes to the economic burden of rare diseases.
Most people with a rare condition will face what is known as the ‘diagnostic odyssey’: a term used to describe the long journey to a diagnosis, often being passed between numerous healthcare professionals in numerous specialties. Even if an accurate diagnosis is reached after an average of around five years, the journey usually doesn’t end for the patient: there is often a lack of treatment options, limited knowledge about their condition, and scant support available.
In addition, rare conditions are often complex, affecting multiple body systems, and require access to multiple specialist therapies, such as speech and language therapy and physiotherapy. The centers providing these therapies may not be located close to the patient’s home, requiring them to travel long distances for appointments and impacting their time and financial circumstances.
Due to the rarity of each condition, clinicians may be unaware of existing treatments. And treatment options for rare diseases are severely limited as research and development are not prioritized, and economic incentives may be deemed insufficient to attract investment into rare diseases. When therapies are developed, high pricing regularly results in delayed and inequitable access.
Patients often become the ‘experts’ in their own condition. Most people they meet, including healthcare professionals, will know little or even nothing about their condition; this means that they and their families and/or carers frequently bear the burden of explanation. While it can be helpful for healthcare professionals to hear from a patient about how their rare condition affects them, having to repeat this information on a regular basis can be exhausting for the patient themselves.
The Global Reality of Rare Diseases
Rare diseases may be individually uncommon, but together they affect over 300 million people worldwide. With more than 7,000 identified conditions—most of them genetic and often beginning in childhood the impact is far-reaching. Many patients face long diagnostic journeys, often waiting more than a year and sometimes up to five years for answers. Because effective treatments exist for only a small fraction of rare diseases, families frequently experience major emotional, social, and financial strain. Rates of depression are significantly higher among people living with rare diseases, and many patients or caregivers reduce or leave work due to the demands of care. Despite these challenges, global awareness and advocacy efforts are growing, pushing for earlier diagnosis, better support, and more equitable access to care.
Rare Disease Day
Rare Disease Day raises awareness for all the million people living with rare diseases around the world, for their families and carers, and for the importance of equitable health systems that meet the needs of people affected in order to leave no one behind.
Rare Disease Day is the opportunity to advocate for rare diseases as a human rights priority at the local, national, and international levels as we work towards a more inclusive society. Meet people with rare diseases. Rarediseaseday has collected stories from people living with a rare disease to educate the wider public. Some of these “rare disease superheros” are:
Reza, Iran: Cystinosis is characterized by the accumulation of the amino acid cystine in different tissues and organs, with the kidneys and eyes most likely to be affected.
https://www.rarediseaseday.org/superheroes/rezas-story/
Shambhavi, India:
Alagille syndrome (ALGS) is a rare genetic disorder that can cause problems in multiple organs in the body, particularly the heart and liver.
https://www.rarediseaseday.org/superheroes/shambhavis-story/
Tshepiso Gloria, Zimbabwe:
Von Willebrand’s Disease is an inherited bleeding disorder in which the blood is unable to clot properly or takes a long time to clot.
https://www.rarediseaseday.org/superheroes/tshepiso-glorias-story/
Wafic, Lebanon
starts in early childhood and affects approximately 6 per 100 000 children, mostly boys. The disease affects muscles, which get progressively weaker, and makes it difficult for a kid to jump, run, and walk. It can also affect the spine and present respiratory problems.
https://www.rarediseaseday.org/superheroes/wafics-story/
Support is There: About the UAE Rare Disease Society
The UAE Rare Disease Society (UAERDS), located in Dubai, aims at providing moral support to patients suffering from rare diseases and their families to help them and serve as an advocate for their voice to decision-makers. It also hopes to communicate with similar global societies and establishments to increase the exchange of scientific knowledge on rare diseases. It also aims to focus on the awareness and development of education programs to limit their spread through prevention strategies. Furthermore, it seeks to help provide novel treatments for rare diseases and also to contribute to developing the appropriate public health policies. The UAE Rare Disease Society will provide its services to all the Emirates and regions of the State and all locals and residents therein who are affected by these diseases.
TheKnowHow Support For People Living With Rare Diseases
TheKnowHow Independent Second Opinion we provide trusted expert guidance for people living with rare diseases. Our service helps patients gain a clearer understanding of their diagnosis, review treatment options, and benefit from insights provided by leading medical specialists worldwide.
Join us in raising awareness by sharing this blog and supporting individuals and families affected by rare diseases.
A contribution by Dr. Gabriele Stumm
@TheKnowHow
