Rare Disease

The signs that individuals experience throughout their health journey can differ from one rare disease to another. Two or more individuals with the same rare disease may also show different signs and symptoms. Some diseases may be more severe than others. Often, individuals with a rare disease are misdiagnosed because their symptoms present similarly to other medical conditions and rare diseases. (AOP Orphan; Rare Disease Day)

Half of the rare disease community display signs right after birth or before they are eight years old. The other half notice signs throughout adulthood. 70% of individuals that are diagnosed with rare genetic diseases experience the first symptom during childhood. (AOP Orphan; Rare Disease Day)

There has been an international shortage of scientific knowledge, research, and treatment relating to rare diseases, as there are thousands of diseases and variants that affect a smaller population; due to this, researchers and doctors are constantly searching for different ways to prevent, screen, and treat rare diseases. (Orphanet Canada)

Whether a rare disease can be prevented or not depends on the type of disease and the root cause of the disease. Causes of rare diseases are genetics, infections, environmental factors, and allergies. (Rare Disease Day; NIH)

Genetics

Rare genetic diseases occur as a result of changes in genes or chromosomes. Chromosomes are made up of DNA. Most rare genetic diseases tend to present themselves during early childhood. Genetic testing is one way to screen for a rare disease, especially for newborns. If you are interested in screening and genetic testing your child, consult with your health care provider. (University of Minnesota Health; NIH; GARD)

Infections

Rare bacterial and viral infections are not caused by genetics; they are caused by bacteria and viruses found in surrounding environments. Rare infections are much harder to prevent since there is not much information regarding these infections; rare infections are not very common. According to research, general prevention protocols for infections should be followed in order to prevent the transmission of viruses and bacteria. Prevention protocols involve practicing good hygiene, following food-safety techniques, staying up to date on immunizations, following safe sex guidelines, and avoiding bugs and animals who are carriers of viruses and bacteria. (GARD; Harvard Health Publishing)

Environmental Factors 

Rare diseases that are caused by environmental factors may be prevented. Environmental factors that can indirectly cause or increase the chance of disease include smoking, and exposure to chemicals and toxins. Limiting an individual's exposure to harmful environmental factors can decrease an individual's likelihood of developing a rare disease. (NIH)

If an individual is living with a rare disease, there are a few things that should be kept in mind:

• Rare diseases are constantly evolving. They can be degenerative or proliferative. This means these diseases can worsen the health of an individual over time. It also means that the cells responsible for the rare disease may multiply at a rapid rate. (Rare Disease Day)
  
  
• Living with a rare disease is a continuous learning experience for the individual and their caregiver(s). (Rare Disease Day)
  
  
• Whether there are treatment plans for rare diseases or not, the biggest source of assistance for the individual is his or her caregiver(s), family, and friends. (Rare Disease Day)

• Patience and support from others are key, as diseases may take weeks, months, or years to be correctly diagnosed. (AOP Orphan)
  
  
• There are many organizations, self-help and support groups for individuals living with rare disease. (AOP Orphan)
  
  
• The individual is not alone; although it may seem like rare diseases only affect a small percentage of the world population, if the total population of individuals living with a rare disease were put together, this population would occupy the third-largest country in the world. (Rare Disease Day)