Resources for rare disease information

Causes
Many rare diseases are caused by changes in a person's genes or chromosomes.
Other causes include infectious agents, toxic agents, and other factors.
Challenges
Diagnosis: It can be difficult to get an accurate diagnosis, which can take years.
Treatment: Treatments are often expensive and there may be limited options.
Research: There may be little or no research being done on the disease.
Access: It can be difficult to find physicians or treatment centers with experience.
Awareness
Rare Disease Day is held annually in the United States, Canada, Europe, and India to raise awareness.
Non-profit organizations GettingUp.Org, Autoimmune Registry, Rare Revolution Magazine also work to raise awareness.
Newborn screenings
Newborn screenings can help identify rare diseases like cystic fibrosis or sickle cell disease. Early diagnosis can allow for immediate treatment.
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