Naca Perez is the president of AELIP. Today, World Day of lipodystrophy, tells us next to Juan Tudela, president of ERDF personal with the disease as well as the incredible efforts to support research and give a voice to those affected by lipodystrophy and other rare diseases experiences.
“people who do not know what it is to live every day with pain, physical pain, speak very comfortable budgets,” explained firmly Naca Eulalia Perez de Tudela, current president of the Association of Relatives Affected and Lipodystrophy (AELIP). It is a phrase that reflects the reality of some three million affected by a low prevalence disease, also known as “rare disease”. In addition, he knows from experience. With his partner, Juan Carrion, president of the Spanish Federation of Rare Diseases, suffered the loss of Celia, her daughter, affected by an extraordinary congenital lipodystrophy . The society held today a day to honor all those who suffer from this strange disease and other forms of lipodystrophy. Those affected are only a few worldwide. This is the story of the people behind this syndrome, its challenges and its day to day living with the disease.
rare diseases and society
What is lipodystrophy?
the lipodystrophy is literally a deficiency in adipose tissue, ie fat. Are known by this name a very diverse set of diseases whose manifestation and consequences varies greatly from one patient to another . To know a little better this syndrome Hipertextual has contacted David Araújo Vilar , surgeon, founder of the Spanish Society of Lipodystrophies and one of the few experts in the world on this disease. “The lipodystrophy are a heterogeneous group of rare diseases that have in common a selective deficiency of adipose tissue,” he explains. With these words, David tells us as the manifestation of lipodystrophy can be very, very different.
” There are over twenty different subtypes of lipodystrophy, each with its particular characteristics. As a result, and simplifying much, patients often they develop diabetes mellitus, hypertriglyceridemia and fatty liver. ” One aspect that stands out about the disorder is that the absence of adipose tissue often causes changes in physical appearance . Thus, the disease sometimes goes beyond the physical consequences and can have consequences that can be stigmatizing. A famous example is the case of Lizzie href=”https://www.youtube.com/watch?v=j1sI2elU65U”> Velasques, which includes progeria syndrome (appearance and premature aging) among others stuff. At other times, the clinical consequences are not so clear. “Sometimes appear pains that are not treated because they lack the necessary diagnostic tests to identify them,” says Naca.
The latest developments
But, being somewhat so different, according to the person who has it, what prognosis patients have? “The prognosis depends on the subtype. The generalized lipodystrophy without proper treatment can significantly shorten the survival of people who suffer.” continues Dr. Araújo. “The partial lipodystrophy generally have a better prognosis , although in some cases can be associated with serious complications.” Currently, we are in a struggle for improvement in the lives of patients. “The important thing is not only life expectancy, but the quality of life,” he told us Naca when talking about his personal experience as both head of AELIP. Because currently lipodystrophy has no cure, proper. You can treat your symptoms, part of his pathology. But it is a complex syndrome and can not simplify your solution.
Advances in research have been many since in 2000 the first gene linked to familial partial lipodystrophy the identify himself. “Today we know more than 15 genes associated with different types of lipodystrophy, and this has enabled better understanding of the mechanisms that lead to fat loss,” says David, “ However, there is still much to uncover in concerning the molecular basis of these disorders “. Although today there is no curative treatment for lipodystrophy, the use of a hormone, recombinant human leptin, has been crucial in the control of metabolic and liver complications of generalized lipodystrophy. The medical unit David is the only one in Spain working with such intensity and knowledge with leptin in the treatment of patients with lipodystrophy.
The World Day of lipodystrophy
Because of its importance, but at the same time, because of their rarity, today we celebrate the día world for those affected by some form of lipodystrophy. This day aims to raise awareness and inform society. Because, as with other rare diseases, those affected are authentic unknown, both the health system and the population. There are no specialists or disciplines dedicated to lipodystrophy . Examples such as the hospital of Santiago, where it exists a specialized unit disorder, are very few. In the rest of Spain as AELIP associations and ERDF are responsible, often, to guide patients and their families. Therefore, the need to give voice to a few, the Association of Families and Affected lipodystrophy has directed a major campaign whose climax, not an end, it is given today, March 31.
in this campaign have joined numerous celebrities showing gesture awareness, an” L “made with fingers that expresses that society knows that this disease exists and do not forget it. The campaign also seeks institutional support shown by href=”http://www.aelip.org/campana-sensibilizacion-redes-sociales-sobre.asp”> . In the end, as we said, the goal is to amplify the voice, express the need for research and knowledge of one of the more than 7,000 diseases that seem forgotten by their low incidence. But the campaign, as impinged Naca not end here. It will continue throughout the year with all the gestures that can make the association, partners and those affected. Everyone is invited to participate in one way or another in the campaign and world day of lipodystrophy.
Research costs very little
Naca, recalling the campaign awareness recalls that there are many ways to investigate. “There are many ways to support research and society know”. For though in Spain, and in most countries there is a clinical reference center on lipodystrophy officially recognized , that does not mean that it can not support the scientific world. “To investigate need healthy people and people affected”, Naca explains, stressing that the research requires control groups to advance. Moreover, there are currently several tools, such as crowdfundings Scientific and collective support to boost discoveries.
“It is necessary that there are units specialized reference, as is if our unit in the university hospital of Santiago, where they can refer patients from anywhere in the state “
” As in the rest of rare diseases usual ignorance of the clinical features of these disorders, their correct evaluation , monitoring and treatment, “insists David to talk about research. This aspect is precisely one of the main solve. One of the major challenges, not only in lipodystrophy, but also in other rare diseases. AELIP, faces this problem with optimism, encouraging anyone who wishes to participate, either through a financial contribution ranging from one euro to voluntary provision that everyone wants, either by participating in medical and research trials.
From tragedy to hope
“ the life changes in an instant ” explained John, to Hipertextual “It allows you to meet other people who have never appeared in your life if it were not for the fact of living with one of those seven thousand names rare “, tells us about his personal experience. He and his partner, first-person Naca suffered the loss of Celia, her daughter, due to a rare congenital lipodystrophy that now bears his name. However, this painful experience has served to sow hope in millions of people affected. “We wanted that smile, that force that Celia always transmitted to us will not stay there but came to other adults and children who face a rare disease”.
as we explained John, when an affected by a rare disease is directed to the health service faces, often a number of very disturbing phrases: “ evolution of the disease is unknown, any treatment is unknown and no patients with the same “. The search for answers to these concerns, fueled by the memory Celia, have served as the main engine in the work of this couple, who represent one of the best examples of perseverance and effort on behalf of those affected by a rare disease and their families.
rare diseases and society
“rare diseases or understand color or political parties” both ERDF and AELIP are only two representations of the rich social fabric that represents those affected by rare diseases. In less than seventeen years of existence, the Federation has managed to encompass more than 300 partnerships with sole purpose, with one voice to defend the interests of families and people affected by a rare disease. ERDF work, however, is not limited to Europe. Since last 2013, Aliber, the Latin American Alliance for the rare diseases combines the effort that occurs in Spain with Latin America. “The partnership has allowed us to know the reality that people face in Argentina, Venezuela, Mexico …” says Juan. “I’ve had the opportunity to meet extraordinary needs and share experiences between countries. It is very important that knowledge journey.” WIS Information Service and Guidance ERDF serves more than 5,000 calls annually from Latin America, a not trivial figure.
This is just a reflection of what it offers and associations such as the Federation AELIP. “The fundamental role is to inform and support AELIP” Naca explains, “It’s a networking, offer psychological support, health information, resources, experiences ….”. And it is that the role of these groups, as mentioned serves to fill the lack of specialists in the health and education system. It is a fundamental role in increasing the quality of life of patients who feel lost. “ I, as a mother, I felt within the health system as if it had been evicted ” had Naca about their experience. “The problem is not people. The problem is what we prioritize, as a system”.
“The inequity is the summary of everything. Having a disease of this type is a marginalization in many ways “
However, society is more aware every day. “Since the last years there has been an attempt by the association of relatives and affected lipodystrophy for sensitize the general population about the existence of these diseases,” explains Dr. Araújo, “and I think to some extent it has achieved, but much remains to be done in this regard “. The use of social networks has been particularly useful. With every gesture, every effort, institutions and people we get closer to the reality experienced by patients and their families by lipodystrophy and other rare diseases. But while progress is made giant strides, the road ahead is still long; very long.
March 31, 2016
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