Living with a rare disease


Given the proximity of the World Rare Disease Day, which will be held this Friday (the 28th of February), we want to devote today’s post to analysing the situation of those patients suffering from a disease of this kind.

These diseases affect a very small number of people, although, to begin with, we must clarify how the difference in criteria varies from one country to another when classifying these diseases.

–        Diseases are considered rare in the U.S. when they affect less than 200,000 people.
–        In Europe, diseases are considered to be rare when their prevalence is less than one case in 2,000 people.
–        While in Japan it is considered a rare disease if it only affects up to 50,000 people.

Regardless of this disparity of criteria, the real problem we find ourselves faced with is the need for all parties concerned to work jointly at a multinational level in search of solutions for this number of patients, which, globally, is not so insignificant.

Implications of rare diseases

The challenge for patients with these health problems is the harsh reality that they have to face every day, which includes the following:

–        Possible absence or delay in diagnosis and access to treatment
–        Information, which is sometimes difficult to access
–        Lack of coordination at international level to deal with the disease

Some rare diseases with their own name

Henoch-Schönlein Purpura (HSP)

It is a rare disease in which an inflammation of the capillaries is caused in a number of organs: kidneys, skin, intestine, etc. The name of purpura comes from a bright red-purple rash that occurs when blood leaks from these small blood vessels.

The symptoms of this disease may range from abdominal or joint pain to blood in your stools, hives, vomiting or diarrhoea. Although there is no specific treatment for HSP, a patient may be prescribed corticosteroids if symptoms persist.

Fragile X Syndrome

It is a rare genetic disease that takes place as a result of hereditary problems in the X chromosome, and which constitutes the most common form of inherited intellectual disability.

The disease is caused by a specific gene – responsible for producing the protein, which is essential for the development of our brain. If the gene defect is significant, the patient may suffer symptoms of this disease, which can manifest themselves as learning disabilities, emotional or social problems, speech and language difficulties, or even severe intellectual disability.

These are just two examples of the more than 5,000 rare diseases, which, despite its name, affect hundreds of thousands of people around the world. At Best Doctors we provide you with access to the best medical professionals in the world so that you can get a second medical opinion for any disease, no matter how unique it is.

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