I never thought that my calendar would have a date marked to always remember: February 28. And no, it is not one of the birthdays of my husband, my daughters or my parents, but it is the day when it reminds us all that there are many different things that we must learn to normalize, understand and spread, in order to help. February 28 is World Day of rare diseases, such as Rett syndrome, which I want to talk about today in the first person.
I want to clarify, in case anyone does not know, that a disease is rare because it is rare, only that, and that within these rare diseasesThere are mild, complicated and serious ones and, although in our case it is serious, I would like to take the weight off it and only speak of rare due to the number of people affected by it.
The sRett syndrome It is a rare and serious disease of which I could be writing pages and pages. It is a disease that affects mostly girls, of non-hereditary genetic basis in most cases and that affects neurodevelopment.
People who suffer from it are born "apparently healthy", I say "apparently" because the disease, unless a precocious epilepsy appears, does not begin to show its face until 18 months. During this time before the year and a half, development could be valued as "normal", in fact my girl had a development until 8 months for me quite "normal".
He held his head when he played, sat when he played, looked at us and imitated when he played, but around 12 months I noticed that certain things slowed down or did not get to do ... And, as expected in this syndrome, between 12-18 months the alarms began to go off ...
That smiling and pretty girl did not sit up alone, those syllables so desired ("ma-ma") did not arrive and, despite the fact that people wanted to transmit normality to me, even the doctors, I noticed that something strange was happening.The disease was beginning to show its face, producing that dreaded setback that I later learned is characteristic of Rett syndrome.
In this setback, acquired skills are lost. In our case, they were few, but he began to forget those he had achieved and thus, little by little, the main symptoms of this disease appeared. She stopped babbling and I never heard her again. It is true that [email protected] [email protected] preserve the language, but if this happens your conversation may be very limited; [email protected] who walk stop walking, a minority keep wandering; their hands are locked in a repetitive beating or washing from which they cannot get out and, therefore, they cease to be operative; and other associated problems such as epilepsy, sleep disorder, conduct disorder, digestive, respiratory or scoliosis begin to appear, the majority becoming 100% dependent.
Everything I put in seems complicated, but the hardest thing is not the disease, but the ignorance, the lack of understanding and, of course, empathy on our part.
Ignorance that makes the diagnosis take time and that must be avoided, why? Why It has been proven that the smaller [email protected] [email protected] are, today they can access very beneficial therapies for [email protected] Also, I cannot allow the same thing to happen to another family as to us: to go to a pediatrician at 12 months and leave the consultation with the feeling of a crazy mother who has not been able to stimulate her daughter, when the one who did not know how to see what was happening was him.
Linked to this ignorance, there is also a lack of understanding about these diseases, considering "rare" those who suffer from them, and in this, please, I need everyone's help to be able to change it.
My daughter does not speak, she does not walk, but she listens if someone approaches, sometimes she screams a lot, but like other children, and it is not for that reason to put her aside. I know that she cannot follow the rest of the race, or play see-saw, but feeling that she is part of this in her own way makes her one more.
A simple hello on the street or in the park may be enough, and it is true that although it costs, there is always a little one who approaches, but at the same time there is always an adult who takes it away indicating that it does not bother me ... Anyway, another war more, educate these parents to raise their children in a more empathetic society where they can look with a normality that their parents did not know how to do.
We need not only to train professionals and health workers, but also the rest of us. We need to understand that there are people who speak other languages, with those who are able to talk (in the case of my daughter, the look). And once we are trained, we will be able to eliminate labels and that only the one of a low prevalence disease remains just because of this, because of low prevalence.
We try to live in a world a little better and instill it in those around us. We even edited a short story, titled The princess without words, initially designed so that children could understand other children different from them, in this case because they are affected by a rare disease such as Rett syndrome but after bringing it out we realized that it should be Required reading for parents who want our children to create a much better future.
Text: Laura Blázquez
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