Do you know what rare diseases are? If not, you must have at least heard about it last month. According to the Ministry of Health, rare diseases are diseases that have different characteristics in their signs and symptoms and that can vary according to each one of them or each person. A broad and little-known concept that has an awareness calendar in February so that the topic reaches more people.
It is in this sense that the obstetric nurse, Camilla Jordão, who is the mother of two-year-old Maria Lia, works. Lia is diagnosed with Developmental Delay Hypotonia and Ataxia Syndrome (EBF3-HADDS), a rare disease. According to the World Health Organization (WHO), there are between six and eight thousand rare diseases in the world and Camilla uses Instagram to talk about one of them and her experiences as a mother.
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Watch the interview:
Brasil de Fato: The very concept of rare diseases is something very broad. If you were to highlight any characteristic according to your experience as Maria Lia’s mother, what would it be?
Camilla Jordão: We use to say here in our family that we have a rare jewel, a very rare rare jewel. And we look at Lia a lot beyond the diagnosis of the disease she had. For us, it is unique, rare and special, but by definition we can say that a disease is considered rare when it corresponds to 65 people per 100,000 individuals, this is the information we have.
Brasil de Fato: Can you tell us a little about how the diagnosis of Developmental Delay Syndrome, Hypotonia and Ataxia arrived?
Camilla Jordão: It was very difficult for us to arrive at a diagnosis because, as they were very vague and very general signs, it was not possible to clinically reach an answer. As she was born right at the height of the pandemic, we were living in that very isolated context. We didn’t have contact with other families, with other children, and we lost a little this parameter of what was considered an expected development for her age group or what was not expected. I work in the health field, as does my partner, and as the weeks and months passed, we began to notice some signs that aroused doubts about whether everything was really fine or whether there was a diagnosis. For example, she was always a softer baby, so we carried her more in our arms and she took a while to support her little neck. It took her a while to sit up and steady herself. When we carried her to change a diaper or to walk with her on our lap, she always needed more support on her back and neck.
Brasil de Fato: What motivated you to go to social media to talk about your experience with Maria Lia?
Camilla Jordão: As Lia was born during the pandemic, social networks for me have always been essential tools to interact with other women, with other mothers who were going through a situation similar to mine in the puerperium. When the diagnosis came, it was no different. I opened an Instagram page with the specific theme of Lia’s syndrome and I was able to connect with other families who were interested in the topic or who had the diagnosis. And from that movement I connected with people from all over the world. Recently, even a mother who lives in Russia, who speaks another language and has another alphabet, identified us and managed to have this contact. It is very good for us to have this possibility of the internet and social networks, both for the feeling of being in a network and in the collective, and for this flow of information that is much faster.
Brasil de Fato: February is a month of awareness, but also of demanding public policies. What are the main struggles of people and families living with illnesses?
Camilla Jordão: February was chosen because it is a different month, because it is a rare month. After all, he has fewer days than other months. February is the month chosen for this awareness, for this movement to sensitize government officials, people from society in general and health professionals about the existence of rare diseases. Often, during the academic period, at universities, health professionals are informed that ‘first let’s think about the most elementary, the bulk, what affects public health as a whole, on a large scale’, so to speak, and with that begins to suspect something more common, which is more commonplace in all books. And it leaves to investigate rare diseases, which affect equally or even more the health of the population, lastly and what we see is that it is necessary to do these two movements in parallel. We are going to investigate what is more commonplace while suspecting a rare disease.
Source: BdF Pernambuco
Editing: Elen Carvalho
