Friend Associations supporting Tango2 or other rare diseases involving rhabdomyolysis.
DES AILES POUR L:
Des Ailes Pour L was created in October 2018 in the commune of Gournay-en-Bray in the Normandy region.
This association aims to support, bring strength, courage and love to little Lola and all her friends suffering from various rare diseases.
No Myolysis considers "Wings for L" as its twin association!
In uncertainty for several years, the final diagnosis of the disease was made in late 2019, Lola has Tango2 disease.
It is a genetic disease of metabolism where the risk of recurrent severe rhabdomyolysis is significant.
The Tango2 gene was found in 2016 and more and more patients are being detected worldwide, about 100 so far.
Very involved in local life and associations, the Allard family now hopes to return the favor after all the acts of solidarity from their family and friends.
"My goal is to help medical research progress as much as possible! The doctors told us that ten years ago, they would have been unable to detect Lola's genetic mutation. Today, I want to make sure that research continues to advance."
Des ailes pour L has since met with Professor Pascale de Lonlay, head of the pediatric metabolic diseases department at Necker Hospital, coordinator, clinician and research project investigator.
Mrs. de Lonlay has been conducting research for several years to advance the understanding and treatment of this disease.
TANGO2 RESEARCH FOUNDATION:
The mission of the Tango2 Research Foundation is to improve the lives of children and young adults affected by Tango2 disease. The goal of this foundation is to fund, coordinate and direct basic scientific research into the understanding of mutations related to Tango2 disease.
Because Tango2 is a recently identified genetic defect, there is not yet a thorough understanding of the specifics of the underlying pathology and the biochemical pathways affected.
Site web : https://tango2research.org
AFM TELETHON :
The AFM-Telethon brings together families determined to beat the disease and supports the development of innovative therapies for rare diseases.
In France, the Telethon is a charity event organized since 1987 by the Association française contre les myopathies to fund research projects on neuromuscular genetic diseases mainly, but also on other rare genetic diseases.
Site web : https://www.afm-telethon.fr
This association of patients affected by congenital myopathy due to RYR1 aims to support research on this disease, to make the medical profession aware of the particularities of this congenital disorder and to support the families concerned.
Site web : https://www.ryr1.org
Lipin1 is a protein, an alteration in the coding of its gene leads to the disease.
To date there is no known association ...
DEFICIT D'OXYDATION DES ACIDES GRAS
The aim of the ALOR association is to establish and maintain links of mutual aid, solidarity and friendship between all children suffering from a deficit in the beta oxidation of fatty acids, whatever the pathology, as well as with their families.
Site web : http://alliancelesoiseauxrares.e-monsite.com/pages/deficit-mcad.html
Où trouver de l’information sur les maladies rares ?
The European orphanet association is an information server on rare diseases and orphan drugs in open access. Its objective is to contribute to the improvement of the care and treatment of rare diseases, whether they are genetic, autoimmune or infectious, whether they are rare cancers or diseases without a precise diagnosis. By typing the name of the disease in the search engine of its website, you will obtain a detailed description of the disease as well as patient associations concerning it.
No Myolysis is referenced on Orphanet!
Site Web : https://orpha.net
Alliance Maladies Rares:
Today, it brings together more than 200 patient associations. It represents nearly 2 million patients and approximately
2,000 rare diseases. It also welcomes isolated patients and families, "orphaned" by associations.
It is, as the preamble to its statutes indicates, "a collective, a movement and a network... It is a union that respects the identities and autonomy of each of its members, for whom it is not a substitute.
Site web : https://www.alliance-maladies-rares.org
SPARADRAP is an association under the French law of 1901 which aims at guiding children in the context of medical and hospital care in order to help them to be less afraid and less in pain during care.
Site web : https://www.sparadrap.org/