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Joti Jain

Rare diseases are known to affect less than 200,000 people out of the population in any area. They are also called orphan diseases, and this is because drug companies were not concerned
about adopting them to come up with treatments. There are about 6,800 rare diseases in the world, affecting up to 300 million people. In Europe, the illnesses that occur in less than 5 per
10,000 residents are called rare diseases.
According to research, rare diseases affect 3.5% – 5.9% of the worldwide population. The estimate of the number of people with rare diseases in America is 25-30 million. About 30 million people
in Europe are affected by one of 6000 rare diseases. In Austria, 400,000 people have been discovered with rare diseases. Japan has less than 50,000 patients with rare diseases per year.
Rare diseases affect people at different times in their lives. They act on a single system of the body or exhibit symptoms across many organs. This factor makes rare diseases not to be
considered as a group by the medical profession.
Some rare diseases are;
Ehlers Danlos syndrome
Tyrosinemia type 1
Duchenne Muscular dystrophy
Cystic fibrosis
NGLY-1 deficiency
Fibrodysplasia Ossificans Progressiva
And so on.
Genetic factors mostly cause rare diseases, but not all of them. These diseases include sporadic infectious disorders, rare forms of autoimmune disorders, and rare cancers. Some other causes
of rare diseases are congenital disabilities and environmental factors. We can trace certain rare diseases to mutations in a single gene.
These genetic mutations can be passed on from one generation to the next, which is why rare diseases extend in families. For some of the diseases, the first symptoms could appear after birth
or in early childhood. Only about 50% of patients have symptoms in adulthood. The symptoms caused by different rare diseases vary, but all patients share the same experiences that bring them
One of the features of rare diseases is the speed and processing of the development of the symptoms and the existence of complications and consequences. This feature is mostly applicable to
children with low chances of effective treatment. These diseases have a chronic nature that endangers patients’ lives and causes significant physical impairment or intellectual disability.
Rare diseases are mostly chronic, degenerating, and life-threatening. People with these diseases go through a high level of pain and suffering.
In some cases, these rare diseases are so rare that a physician may not have come across any other patient with that disorder. This is one of the reasons for poor treatment for such patients.
These diseases are also difficult to diagnose or recognize. Some of them may present common symptoms that could be attributed to a specific disease.
Patients with rare diseases are usually dependent on a few specialists, and access to these specialists could be difficult. Many rare diseases need to be sufficiently and adequately
investigated to allow their definite diagnosis. Sometimes, it takes months or several years to come up with a reliable diagnosis.

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