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About CHRONIC & rARE dISEASES
Chronic Diseases and Rare Diseases
What is Rare Disease? Chances are, if you don't know a Rare Disease, it is. Diseases such as Cancer or Alzheimer's are not rare diseases as a whole but certain forms of these disease are considered rare. Either way, we are still one community and together we are stronger.
Canada: A rare disease is a condition affecting fewer than 1 person in 2000 in their lifetime.
USA: A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
Europe: In Europe when a disease affects fewer than 1 in 2000 person, the disease is defined as rare. One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.
80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. 50% of those affected are children.
Rare Diseases (Global Genes)
- 350 Million people globally are fighting rare diseases.
- Rare Diseases Impact more people than aids and cancer combined.
- Approximately 50% of the people affected by rare diseases are children; 30% of children with rare disease will not live to see their 5th birthday.
There are over 7000 known rare diseases/disorders. 1 in 12 Canadians will be affected by a rare disease. Rare in the USA, when it affects fewer than 200,000 Americans at any given time. In Europe when a disease affects fewer than 1 in 2000 person, the disease is defined as rare. 50% of rare diseases touch children.
Some familiar names of Rare Disease or Disorders: Alzheimer, Arthritis, Autism, Bronchiolitis, Cancer, Cerebral palsy, Cervical Dystonia, CHILD syndrome, Cholesterol, Headache, Cystic fibrosis, Crohn's Disease, Deafness, Dementia, Diabetes, and more. See the list of Rare Diseases for more details.
Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear.
While doctors diagnose and treat a disease, a disorder describes: “the disruption of the disease to the normal or regular functions in the body or a part of the body.” For example, a disorder resulting from cardiovascular disease is an arrhythmia or heart failure. Disorders can be classified into: Mental, Physical, Genetic, Emotional, Behavioural or Structural.
What is a condition?
The word condition is used in the sense of ‘state’ or ‘an illness or a medical problem. Sometimes a syndrome can be caused by a number of diseases or can be a medical condition, which is defined as: “an abnormal state of health that interferes with the usual activities or feeling of wellbeing.” For example chronic fatigue syndrome is a neurological condition, diagnosed from a collection of symptoms in addition to the main symptom of post-exertional malaise.
What is a Syndrome?
A syndrome refers to a disease or a disorder that has more than one identifying feature or symptom. In other words, a syndrome is: “a collection or set of signs and symptoms that characterize a particular condition.” Down syndrome is a well-known genetic disorder, and is characterized by having an extra copy of chromosome 21 in combination with a number of distinctive physical features at birth. Sometimes a syndrome can be caused by a number of diseases or can be a medical condition, which is defined as: “an abnormal state of health that interferes with the usual activities or feeling of wellbeing.” For example chronic fatigue syndrome is a neurological condition, diagnosed from a collection of symptoms in addition to the main symptom of post-exertional malaise.
What IS the difference?
One of the original definitions of ‘what is a disease?’ was published in the BMJ in 1900 and defines disease as: “resulting from a pathophysiological response to external or internal factors.” Today, doctors treat and diagnose a disease based on abnormality in systemic function (eg cardiovascular disease) that causes both physical and emotional signs and symptoms to prevent pain, dysfunction, distress, social problems or death.
Down syndrome is a well-known genetic disorder, and is characterized by having an extra copy of chromosome 21 in combination with a number of distinctive physical features at birth. Sometimes a syndrome can be caused by a number of diseases or can be a medical condition, which is defined as:
“an abnormal state of health that interferes with the usual activities or feeling of wellbeing.” For example chronic fatigue syndrome is a neurological condition, diagnosed from a collection of symptoms in addition to the main symptom of post-exertional malaise.
Global Genes RARE List™ is comprised of approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide. Global Genes often asked why some common diseases are included on the RARE List™. The answer is two fold:
- This is a list of rare diseases defined in the United States where a prevalence of less than 200,000 cases is the primary criteria. Diseases such as malaria are quite common in some parts of the world, but are considered rare in the United States
- Other diseases such as Cancer or Alzheimer's are not rare diseases as a whole but certain forms of these disease are considered rare.
Carion Fenn Foundation 100 Rare Disease & Disorders List:
A list narrowed down to help simplify the understanding of what is a rare disease to allow the public to get a better understand of Rare Diseases & Disorders affecting our Communities.
- Alzheimer
- Arthritis
- Autism
- Bronchiolitis
- Burning mouth syndrome
- Cardiac rupture
- Cardiocranial syndrome
- Cancer
- Carpenter syndrome
- Central post-stroke pain
- Cerebral palsy
- Cervical dystonia
- CHILD syndrome
- Chiari Malformation
- Cholesterol
- Crohn's disease
- Cystic fibrosis
- Deafness
- Dementia
- Diabetes
- Dystonia
- EDS (Ehlers Danlos Syndrome)
- Epilepsy
- Fetal Alcohol Spectrum Disorders
- Fibromuscular dysplasia
- Fibromyalgia
- Fish-eye disease
- Fraser syndrome
- Gallbladder
- Glaucoma
- Headache
- Heart disease
- Heart tumor
- Hepatitis
- Hutchinson
- Hydrocephalus
- Intractable hiccups
- NF (Neurofibromatosis)
- LAM (Lymphangioleiomyomatosis)
- Leukemia
- Lupus nephritis
- Measles
- Meningitis
- Mumps
- Muscular dystrophy
- Paine syndrome
- Paraplegia
- Parkinson
- Polio
- Q fever
- Rabies
- Rubella
- SARS
- Scoliosis
- Sickle cell anemia
- Sjogren's Syndrome
- Smallpox
- Spina bifida
- Syringobulbia
- Syringomyelia
- Tick paralysis
- Tuberculosis
- Whooping cough
- Yellow fever
List Narrowed down from Global Genes Rare List & Names given by those we provide support to.
According to the Canadian Organization for Rare Disorders: 60% of treatments for rare disorders make it into Canada and most get approved up to six years later than in the USA and Europe. People with rare disorders in Canada are missing out on treatments that could save or significantly improve their lives. This needs to change. About 80% of rare diseases are caused by genetic changes. 25% of children with a rare disease will not live to see their 10th birthday.
Information Source
Rare Disease Facts by Global Genes:
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Chiari Malformation
Chiari Malformations (CM)(key-Ar-ee—mal-for-May-Shun) are structural defects in the cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation.
Syringomyelia
Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying a portion of the spinal cord from its centre and expanding outward. As a syrinx widens it compresses and injures nerve fibres that carry information from the brain to the extremities.
Chronic & Rare Disease
Chronic diseases such as diabetes, cancer, arthritis, mental illness, and cardiovascular and chronic respiratory diseases are major contributors to reduced quality of life, loss of productivity, and increased hospitalization and health care costs as well as premature death in Canada. Out of every 5 Canadians aged 20 years or older, 3 have a chronic disease and 4 are at risk of developing a chronic condition.
Chronic & Rare Disease
Chronic diseases such as diabetes, cancer, arthritis, mental illness, and cardiovascular and chronic respiratory diseases are major contributors to reduced quality of life, loss of productivity, and increased hospitalization and health care costs as well as premature death in Canada. Out of every 5 Canadians aged 20 years or older, 3 have a chronic disease and 4 are at risk of developing a chronic condition.