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Among the 7,000 known rare diseases, may Rett syndrome is one of the incidents. But still, those affected face the same problems of forgetfulness, sensitivity and lack of resources.
Only one in ten thousand girls (and virtually no child) suffers from a strange and complex syndrome that until a few decades ago was entirely unknown. Since, in the sixties, Andreas Rett first described this disease, its recognition has gone through several stages. Today we know a little better, allowing us to work to improve the quality of life of those affected and their families. But we have found only the tip of the iceberg. After the syndrome exists a complex epigenetic mechanism that causes the disease manifests itself differently in each person. The daily life of patients href=”http://www.rett.es”> always depends on those around them to succeed. It is thanks to your family, friends and associations that life of patients is full of positivity and hope. Today we tell you a little more about this syndrome and people living with it.
What is Rett syndrome?
As explained, Rett syndrome, but increasingly better understood, it is still a great unknown. The disease mainly affects women because it is manifested by a disorder in the sex chromosome X . But it can also occur in men, although this is much rarer, because of this very reason. It is estimated that in Spain there are about two thousand cases diagnosed . In other countries, especially in some Latin American countries, the disease is largely unknown. In others, like Argentina, several associations fighting for the recognition of those affected. Rett syndrome does not manifest itself until several months after birth and before the four years. At first, children begin to be less communicative. Gradually manifest various motor problems, odd behaviors and finally it is clear that there is a problem of neurological origin. Over time, the disease changes and its manifestations may become even more aggressive or deep . Rett syndrome is considered a pervasive developmental disorder (PDD), but independent of the autism spectrum and whose biological origin is distinct.
It is estimated that in Spain there about two thousand cases diagnosed This origin, as we explained, lies in the genetics of girls who suffer. But it is not a disorder that meets the “typical” genetic laws, but its origin is epigenetic. This means that due to the way they express genes and not a direct mutation. To perform its functions, the DNA needs to express, translate and convert the genetic instructions into proteins and basic molecules. This is done by other proteins, tools that allow you to perform these functions. In patients Rett syndrome exists an altered gene, MECP2, causing alterations in production of a protein, MeCP2. This is a tool that turn regulates other genes that have important neurodevelopmental . Specifically, its role is key in neuronal maturation. Today we know that other mismatches in genes as as FOXG1 and CDLK5 also produce the syndrome.
However, as we explained, symptoms and manifestation of Rett syndrome varies among patients. This is because that, physiologically, the syndrome causes problems in the neural connections. But these connections are not always the same. This means that the degree of damage depends on how those connections form. However, in all patients with Rett syndrome, in the end, external support is needed to lead a normal life because they can not move well, there are cognitive problems and sometimes suffer from other manifestations. For example, spasms and epilepsy, in addition to musculoskeletal disorders, among other things.
“You can be very happy despite the disease”
But while Rett syndrome it is a very serious problem psychomotor level, that does not mean that the lives of patients and their families may not be full. “The family suffers a blow,” says Teresa Carrallo Sanchez, Vice President of the Spanish Association Rett Syndrome (AESR) for Hipertextual, “but it is better rethink things, and the sooner you start to seek happiness, the better.” Teresa knows very closely the disease. Not only because of his training as a pharmaceutical and responsible role in a hospital, but by the experience with her youngest daughter , which also suffers from the syndrome. “We were almost nine years without diagnosis. During that time we were lurching through different cities and different hospitals to get that diagnosis as soon as possible and start specific therapies. It was a long journey that brought us a lot of bitterness and made us see life differently “tells about his experience.
[…] the family suffers a blow, their schemes are broken, do not know what they face and do not know the magnitude of the problem that must front facing. takes a long time to assume and accept the disease but it is better rethink things and the sooner you start looking for the best happiness.
Teresa highlights the need to grow, to move forward, to avoid victimization that have affected families. . “You can be happy, very happy despite the disease schemes must change and adapt to new circumstances , you can and must because we have more children and for ourselves.” His experience, like that of many other members of the AESR, it is essential to show others concerned to be maintained the struggle for happiness. Another key roles is to inform AESR. “It’s very difficult to get into this underworld because the information is not available to all Being, is,. But it is not easy to find, nor is it easy to search”
The role of an association
As with the vast majority of seven thousand rare diseases there, ignorance is the main problem facing families and affected. “If the professional who gives you the diagnosis is an expert on the disease can tell you or redirect you to good information . If not, you have to start to look,” says Teresa about how it is to live one diagnosis. Another aspect is the ignorance of society: “In general people have very little information, but shows interest, affection and respect for them (the affected children) and parents when they live closely.” Therefore, as the AESR collective work to improve the health service and diagnosis. They also ensure create a place where those affected can find the right information to your situation. Another key part is to educate society.
” As is usually young children society often show a compassionate side that sometimes insulting, “says Teresa. “We do not want sympathy, we want to be treated according to our needs.” But neither of these two tasks is easy. At the moment there are no specialized professionals in Rett syndrome. In fact, often, health professionals do not know what they face . That creates a sense of unease in the face very difficult families. Therefore, the association brings together patients and affected with the intention of creating a collective force. “When you find the you you relieve Association because you know you’re not alone, that there are more people like you It’s like you have a new family And when you know, are like relatives those who have never seen but have much in common.. and then connect. “
from the AESR that force is used to search for actions to open new doors to research and development of treatments. It also aims to train professionals themselves to treat disease. “The [health] most qualified cooperate in the training of future professionals from the classroom, giving technical lectures and presentations where it is explained what the disease, what treatments there are, how you can improve the quality of life …” the AESR also seeking funding to bring therapies to all those affected . “We try to make visible their problems, demands … advise on rights, on how to get projects, new technologies, research …” says Teresa, about it. In short, the work of an association as AESR is to give a face, a voice and hands to all those affected by Rett syndrome. Only then can complete the most ambitious goals: together
The future of a patient
currently Rett syndrome has no cure. The only thing you can do is treat associated diseases and assist those affected patients who need help the rest of your life. For now the research moves on to better understand the disease. This is the only way to unravel the keys to ensuring a better quality of life. The future of patients with Rett syndrome is often as other affected by a rare disease uncertain. is a problem that needs to be changed . And to do that you have to invest in research, knowledge, awareness and sensitization. In addition, you also have to show what tools are available in this fight. There are services in information and guidance, such as the SIO Federation of Rare Diseases, FEDER, or routes of contact that has AESR for those affected. The future of all, both patients and relatives, can greatly improve thanks to the work of the collective. People who voluntarily or professional dedicated a huge effort to provide a brighter future for all.
April 11, 2016
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