What are the Difficulties of Treating Rare Diseases?


Living with a rare condition can be solitary and tough. There may be little information available concerning the ailment, and there may be few, if any, therapies available. It may also be difficult to connect with other sufferers — or even determine how many of you are out there.

A rare disease is one that affects fewer than 200,000 people in the United States. Researchers believe there are up to 7,000 such diseases, and around 30 million Americans are currently dealing with one of these diseases that you have probably never heard of or know very little about.

"Even though these disorders are considered rare based on the amount of persons affected," says Summit Health Infectious Diseases and Travel Medicine specialist, "a considerable number of individuals incur significant problems from them." "And the ramifications extend beyond therapy, which may be less readily available than for more prevalent disorders, to the toll on mental health, a person's family, and the entire health-care system."

One of the difficulties of having a rare condition does not know how common it is. When someone is diagnosed with a common ailment, such as asthma or diabetes, it is recorded in a register and examined over time. Rare diseases, on the other hand, are rarely tracked unless they are supported by the National Institutes of Health or a private group. Researchers struggle to characterize and understand these little-known diseases due to a lack of a centralized database. The symptoms, like many other illnesses, might vary from person to person. With so few people to research and monitor, it might be difficult for doctors to make an educated diagnosis. Children and adults are both affected by rare disorders. Our experts can help you evaluate and manage the following conditions:

·         Cancers and blood disorders - esophageal cancer and haemophilia

·         Autoimmune condition - primary biliary cholangitis

·         Genetic disorders - Fabry disease and spinal muscular atrophy

·         Infectious diseases - typhoid fever and even mosquito- and tick-borne illnesses

·         Cushing's syndrome is a hormonal condition.

·         Narcolepsy and amyotrophic lateral sclerosis (ALS) are neurological disorders.

·         Cystic fibrosis and pulmonary arterial hypertension are respiratory diseases.

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