On the day of the world of rare diseases, AMgen strengthens attention to symptoms and treatment of the disease
Summary
February 28 is the world day of rare diseases, which affects 3.5% to 5.9% of people in the world.
February 28 is remembered as a world day of rare diseases and, according to some international studies, 3.5% to 5.9% of people worldwide can be influenced by some rare diseases at some point in their lives. In Brazil, the Ministry of Health estimates that about 13 million Brazilians are affected by diseases considered rare.
Although diagnosed, the great challenge for patients looking for answers is within the doctor’s office. The symptoms of these diseases are often confused with other more common diseases and this can lead to a delay in the correct diagnosis and treatment. This is the case of the thyroid eye disease (point), characterized by inflammation, orbital muscles, eyelids and adipose tissue behind the eyes, which causes symptoms such as redness, swelling, double vision and pain, as well as causing eyes projection, as if they were jumps or “wide” ⁴.
Ivana Romero, ophthalmologist, CRM 113133 which serves to Santa Casa de São Paulo, reports the difficulty of taking care of patients who have not been diagnosed, which implies the loss of an important window of opportunities for the treatment of points. “Dot presents itself in various ways and I have already participated in cases where patients have reported that they have transmitted to many professionals, after diagnosing other diseases and, when you find a professional who can identify Dot, the condition of the disease is already advanced.”
In Brazil, according to the Ministry of Human Rights and citizenship, the diagnosis of rare diseases is difficult and requires time, which can lead a patient to seek help in health services for months and years, until it is diagnosed correctly and, according to dr. Ivana, even serious cases can remain without diagnosis. “When a patient arrives with a very serious case, called compression neuropathy, it is necessary to make a quick and assertive diagnosis and act quickly for surgery. And unfortunately, I still have patients who have been with the disease for years and have not been diagnosed, which greatly compromises the vision of the eyes “, adds Ivana.
Rare diseases and long journeys
Dot is often related to the bass disease, an autoimmune disease that affects the thyroid. Dot diagnosis is performed by clinical examination and can be supported by imaging and laboratory tests when necessary. This is how the pharmacist Maria Aparecida Ville has started the search for treatments for the disease of her daughter, Fernanda Villela. “We discovered Fernanda’s disease for the first symptoms during routine control. A change in thyroid, hyperthyroidism has been identified, which was subsequently diagnosed as a serious illness, and when they started to appear eye symptoms, our journey started, “he says.
Maria Aparecida says that Fernanda’s disease was discovered at the age of 12 and, due to the lack of diagnosis, the dot aggravated. “At this age it is complicated because nobody wants to treat rare diseases, especially in internal cities.” He also reports that he had crossed three professionals who could not underline what Fernanda’s disease was. After three months of research of responses, indicating a medical nephew, the family, residing in the city of San Lourenço, Minas Gerais, managed to enter the Santa Casa de São Paulo and therefore managed to reach the diagnosis and start treatment.
Throughout the journey until the identification of the disease and the execution of the surgical interventions, there were 42 consultations. Initially, the student of elementary school II took 12 medicines, which today have been reduced to two for ophthalmological controls. In addition, Fernanda had to undergo two surgical interventions: the first for the removal of the thyroid and the second decompression of the orbits.
Today the teenager lights up the disease and is not shaken by restrictions. “The bass disease and the point have brought many physical and emotional changes in my life. I had to adapt to a new lifestyle and give up some activities, but today I understand that Dot is a disease that will be with me forever and after surgery, I don’t even remember, only when I have to go to routine appointments.
Fernanda’s mother stresses that an important part of the treatment is family care with the patient. “Families must discover Dot, or whatever the rare disease that the patient is going through, avoid embarrassing comments or a joke that can hurt. Today, after all, I say that the family and the community, around the patient, must embrace and understand that everyone close to suffering and the disease is all.
Although the exact number of rare diseases is unknown, it is estimated that between 6,000 and 8,000 different types. The main symptoms of Dot are Propthis, retraction of the eyelids, diplopia, edema and redness of the eyelids, feeling of dry eyes, addiction to conjunctiva, photophobia, pain when moving the eyes and pain and pressure of the eyes.
Source: Terra
Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.
