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Lack of information is one of the obstacles to overcome

Each rare disease has its own symptoms, needs specific tests and has a unique path to diagnosis. Lack of information for both patients and healthcare professionals is another obstacle to be addressed.

“Because it’s rare, it’s never the first thing people think about,” explains clinical oncologist Rachel Riechelmann. “If a woman in her 50s starts having hot flashes, she goes to the doctor and the first guess is menopausal symptoms. No one will think it could be a rare neuroendocrine tumor that produces a hormone that gives you heat. less common, usually general doctors or gynecologists won’t think about it right away, which justifies the delay in making a diagnosis”, exemplifies Rachel.

Furthermore, there are rare diseases that are really more difficult to recognize through clinical evaluation alone, either due to their infrequency or non-specific symptoms. “This is the case for many syndromes associated with neurodevelopmental delay and birth defects,” explains geneticist Carlos Eduardo Steiner. In these cases there is a need to carry out more specific tests, which are still inaccessible to the general population.

As for treatment, Rachel believes that, in some cases, there is a chance of recovery. “We have rare genetic diseases, in which the person was actually born with that genetic alteration and there is no cure, because it is present from birth, but there are rare diseases that are not genetic and that can, yes, be diagnosed early and the patient recovers”.

It is undeniable that, to increase the degree of efficacy of the treatment, early diagnosis is a key factor. It is therefore necessary to overcome this difficulty in understanding the signs associated with rare diseases. And, even for cases where there is no cure, there are treatments that can bring some sort of quality of life to patients, but also require early diagnosis of the disease.

“The treatment itself has a number of facets. It may require treatment from neurology, pediatrics, physiotherapy. Sometimes, the patient has difficulty walking, talking, swallowing, so there are several palliative treatments, in addition to effective treatment,” says Fernando Iazzeta, director of Compliance and Corporate Affairs at the Italian pharmaceutical company Chiesi. “The main message is to focus on the correct diagnosis. From this, we will look in this multidisciplinarity where we can best welcome the patient”, he underlines.

To shorten the path of patients between disease diagnosis and treatment, some measures can be taken. “We need to invest in training rare disease professionals and expand the number of services that provide this kind of care,” says Steiner.

Rachel reiterates that education is the way to improve this situation. “Bringing more medical information on these rare diseases, to make the diagnosis, can help a lot. Another front is educating the population itself, showing symptoms that people should pay attention to in order to seek medical assistance more quickly”.

Iazzeta also says private companies can take responsibility for changing this scenario. “Our role as an industry is also to propose dialogue with public institutions at the municipal, state and federal levels, so we can combine efforts to ensure this access to diagnosis and treatment.”

Source: Terra

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