Navigating the Complexities of Rare Diseases: Understanding, Diagnosis, and Support
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
All rare diseases and conditions are, as the name suggests, rare. However some are more rare than others. In the US, a rare disease is defined as one that affects less than 200,000 in the entire country. However, each rare disease has its own prevalence rate, and some are extremely rare with just a handful, or sometimes only 1-2, of individuals affected globally.
Diseases that run in families are also known as inherited diseases. Some of these have clear genetic causes – and are the result of a specific gene mutation that is inherited in a specific way – others have more complicated causes, including a combination of genetic and environmental reasons.
Living with a rare disease can be difficult. This can be because of any number of different reasons. On top of the symptoms of a rare disease, which can include serious health and medical conditions, it can be difficult to live with a rare disease if you are unable to secure a confirmed diagnosis for your condition.
Rare congenital diseases are those which are present at birth. They may be diagnosed prenatally (before birth), at birth, or later in childhood. Congenital rare diseases are always present at birth but may not be diagnosed until afterwards, sometimes as late as adulthood.
Lionitis Disease is a genetic disorder characterized by the excessive hardening of bone, primarily of the face and skull. Also known as craniodiaphyseal dysplasia (CDD), one of the first signs of the disorder that parents notice is widely-spaced eyes. Official diagnosis typically takes place before the age of two, however, as the main symptoms of Lionitis become evident very quickly.
Autism spectrum disorders (ASD) are diagnosed or begin to be symptomatic in infancy or early childhood, and persist through adulthood. ASD tends to affect communication, social interaction, and certain behavioral patterns.
Rare behavioral disorders are those rare disease which are defined by the presence of behavioral issues in individuals. Behavioral issues usually involve behavior that deviates from what is considered normal behavior. Generally to be classed as abnormal, this behavior must include more than one behavioral issue, last for longer than six months, and be noticed in a variety of different settings and environments.
A muscular rare disease affects the muscles of the body. This can be a weakening, or irritability, or low muscle tone. This can also have a consequent impact on an individual’s physical development and ability. The body contains over 600 muscles, and muscles control every movement we make. There are three main types of muscles – cardiac, skeletal and smooth.
Rare Disease Day is held every year on the last day of February. It originally began as a European initiative in 2008 by EURODIS, and the Council of National Alliance, but has since spread to other countries, including the US which joined in 2009. In 2020, over 100 countries from around the world participated in their own local rare disease days.