February 29th is International Rare Disease Day

The last day of February is celebrated worldwide as Rare Disease Day. This status was given to this day at the initiative of the European Organization for Rare Diseases (EURORDIS). The goal of the aforementioned organization and this day is to draw public attention to rare diseases and share information about how such diseases affect the lives of patients.

What is a rare disease and how many such diseases are there?

If the incidence rate does not exceed 1 case in 2,000 people, such a disease is called rare. According to EURORDIS, about 245,000 people suffer from rare diseases. Meanwhile, there are diseases that affect only a few patients in the world.

One of the more interesting examples is Fields disease. Only two people in the world have this disease – twin sisters living in the United Kingdom. It is a disease that damages muscles and causes their wasting and other degenerative processes. The first signs of the disease appeared when the sisters were just 4 years old, and from the age of 9 they could no longer walk independently. At the age of 11, the twins could not eat independently due to atrophy of the muscles of the face and mouth, and from the age of 14, the girls did not speak a single word due to complete muscle dysfunction. Now the patients are over 20 years old and they are completely disabled, as they cannot perform even the simplest actions independently. However, there is good news – the disease did not affect their mental abilities, so the sisters can pursue science, like the famous Stephen Hawking.

And how are the celebrities doing?

If you think there are no famous people with rare diseases, you're wrong. We've already mentioned Stephen Hawking, who suffered from amyotrophic lateral sclerosis, but you might be surprised to learn that one of the most famous pop stars, Michael Jackson, suffered from two rare diseases at the same time - lupus and vitiligo.

The most striking examples of our time are Lady Gaga and Selena Gomez. These stars have been battling lupus for years. Selena Gomez has already completed a course of chemotherapy and undergone a kidney transplant. An interesting fact is that Selena's best friend, Francia Raisa, became a kidney donor. Due to health problems, the singer has been forced to stop her concerts and other activities more than once. The other celebrity, Lady Gaga, has a milder course of the disease, but she also complains of constant weakness and has been hospitalized more than once.

Is living with a rare disease difficult for everyone?

There are people who are able to turn a minus into a plus and make a career out of their uniqueness – a rare disease called vitiligo. Vitiligo is a disease that causes changes in skin pigmentation, causing melanin – the pigment responsible for skin color – to disappear in certain areas of the skin. As a result, certain areas of the skin are completely white. Canadian model Winnie Harlow, better known as Chantelle Winnie, used this in her modeling career and is now at the peak of popularity. You can even see her in advertisements in shopping centers “Akropolis”.

What can be done to prevent the consequences of serious diseases?

Early diagnosis of diseases is one of the main factors determining the quality of life in the future, so do not forget to visit your family doctor regularly and have blood tests at least once a year. In addition, you can notice some signs of the disease yourself - tremors, constant general weakness, drowsiness, attention disorders, increased temperature, skin color or other changes, etc. If you notice these symptoms, consult a doctor immediately. Another early "signal" of an incipient disease is increased, decreased or fluctuating blood pressure and pulse, so blood pressure should be monitored even if you do not have any health complaints. Young people are recommended to measure their blood pressure at least a couple of times a month, and if you are over 35 years old - a couple of times a week. If you notice that your blood pressure is abnormal, consult a doctor immediately.