Individually Rare, Collectively Common - What is a Rare Disease
Per definition, a rare disease is a condition that affects fewer than one in 2,000 people. Despite their individual rarity, all healthcare professionals will encounter patients living with rare conditions. Thus, it is critical to understand how to support them.
Even though rare diseases are uncommon on their own, they are frequent in large numbers. There are more than 7,000 rare diseases known to exist, impacting about 300 million individuals globally. One in seventeen persons are predicted to experience a rare disease at some point in their lives.
Rare Disease Needs Awareness and Expertise
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.
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.
Mote than 70% of rare diseases first manifest in childhood, and more than 30% of children with rare diseases passes 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.
Parents of affected children, 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.
Rare diseases fall into four major categories: single gene, multifactorial, chromosomal, and non-genomic. About one of four rare diseases arise from immune system problems, 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 Programme” investigates the genetic composition of Emiratis in an effort to better understand rare genetic illnesses and develop novel therapies, as well as to 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.
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 accessible.
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 FACTS
- Each rare disease affects fewer than 1 in 2000 people.
- There are over 7000 distinct rare diseases.
- More than 300 million people are living with a rare disease worldwide.
- One out of 17 people will develop a rare disease during their lifetime
- ≈70% of rare diseases start during childhood.
- ≈72% of rare diseases are of genetic origin.
- ≈70% of people with rare diseases wait more than 1 year to get a confirmed diagnosis.
- ≈5 years is the time it takes on average for rare disease patients to get a diagnosis.
- 7 in 10 people living with rare diseases and family caregivers reduce or stop professional activity.
- The proportion of people with rare diseases who report feeling depressed is 3 times higher than that of the general population.
Rare Disease Day
Rare Disease Day raises awareness for all the million people living with rare disease 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 local, national and international level 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. Reza’s 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. Shambhavi’s 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. Tshepiso Gloria’s 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. Wafic’s Story
Nada, Egypt
Epidermolysis Bullosa, affects one in 50,000 people in the world. It makes the skin extremely fragile and prone to blistering and sores. Even the slightest touch can cause damage to the skin’s surface, resulting in secondary illnesses that require treatment from a range of medical specialists. Nada’s Story
Support is There: About 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.
Meet The Experts in Abu Dhabi
Under the patronage of H.E. Sheikh Nahayan Mabarak Al Nahyan, Cabinet Member and Minister of Tolerance and Coexistence, the MENA Congress for Rare Diseases 2025 in partnership with Burjeel Medical City will take place from 17 to 20 April 2025 in Abu Dhabi, United Arab Emirates.
The previous MENA Congress for Rare Diseases 2024 turned out to be the largest event for rare diseases and a key milestone in showcasing the regions dedication to improving the lives of individuals afflicted with these disorders. The upcoming meeting in April 2025 will last for 4 full days with more than 150 national and international speakers with expertise on various topics related to rare diseases including advances in understanding rare diseases, artificial intelligence, gene and cell therapy, genetic counseling, inclusion and diversity, patient advocacy, psychosocial challenges, among many other. The meeting will also be attended by community services, and support and advocacy groups.
TheKnowHow Support For People Living With Rare Diseases
TheKnowHow Independent Second Opinion is here to add another level of expertise for patients with rare diseases. We help you to understand your condition and your options, and provide you with latest news from most specialized experts.
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