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Showing posts with label Trimethylaminuria (TMAU). Show all posts
Showing posts with label Trimethylaminuria (TMAU). Show all posts

Sunday, March 3, 2013

World Premier of The Boy Who Smells Like Fish






The amazing Canadian film - The Boy Who Smells Like Fish - had its world premiere last night to a sold out crowd at The Miami International Film Festival -
sponsored by The Miami Downtown Development Authority
Schwatz Media Strategies 3MAR13


In The Boy Who Smells Like Fish, the talented young actor, Douglas Smith skillfully portrays the consequences of constant social ostracism due to his rare disease, trimethylaminuria – the modern day "leprosy." As Mica’s therapist, Carrie Anne Moss brings elegance and sensitivity to her role. Through her, the screenwriters, Javier Gullón and Analeine Cal y Mayor depict the boy’s deep psychological wounds from early childhood to adulthood, and his very poor future prospect in relationships and in career opportunities. Zoe Kravitz gives depth to her character, Laura, who is a breath of fresh air with her upbeat and loving way in spite of her own personal challenges. Ariadna Gil, Mica’s mother expertly personifies the torment mothers of children with rare diseases experience, while Don McKellar depicts a father who simply can’t cope with his son’s condition.

In the end, the screenwriter’s use of magic realism as the conclusion to this unsolvable metabolic disorder personifies a defiant spirit that persists without surrender. It attempts to break through the natural barrier inherent in a rare disease and screams, "anything is possible; we just have to believe and reach for it." This film tells the story of a doomed life with a delightful dose of artistic stimulation, and invites the viewer on a journey to break through the obvious limits to follow a dream of what could be. Gonzalo Vega's captivating style is a perfect vessel to draw the audience into this magic realism. Bravo!

After the film had finished, the whole cast, director, and producers went up to the stage for a Q & A session with the audience. When the Director, Analeine was asked the first question, she said that she first wanted to introduce me, asked me to stand up (I was in the audience), and told the audience that I was the founder of MEBO Research, a public charity whose mission is to promote research into trimethylaminuria. The audience broke out in a great applause, and even after I sat back down, they kept on clapping, so I had to stand up again. I never thought TMAU would get such a powerful applause from non-sufferers, so I know the film had an impact and carried the message well.

María

María de la Torre 
Founder and Executive Director 

A Public Charity
www.meboresearch.org
www.brasil.meboresearch.org
maria.delatorre@meboresearch.org
MEBO's Blog (English)
El Blog de MEBO (español)
MEBO Brasil - Blog (Portuguese)

Wednesday, November 14, 2012

MEBO Research, registered Patient Organization in ORPHANET


MEBO RESEARCH IS PROUD TO BE
A REGISTERED PATIENT ORGANIZATION OF

ORPHANET

There is no disease so rare
that it does not deserve attention

Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.



Orphanet services:

Orphanet offers a range of freely accessible services:
  1. An inventory of rare diseases and classification of diseases
  2. An encyclopaedia of rare diseases
  3. An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorisation.
  4. A directory of specialised services, providing information on specialised clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the countries in Orphanet’s network.
  5. An assistance-to-diagnosis tool
  6. and many more

Orphanet offers a listing of Support Groups by Country, and a page listing all the labs in Europe that test for TMAU, and other websites.

MEBO Research is listed under the Disease group of Trimethylaminuria,

Orpha numberORPHA35056
Synonym(s)Fish-odor syndrome
PrevalenceUnknown
Inheritance
  • Autosomal recessive
  •  
  • Sporadic
Age of onsetVariable
ICD-10
  • E88.8
OMIM
UMLS
  • C0342739
MeSH
  • C536561
MedDRA
  • 10068233
SNOMED CT
  • 237959005

Another site in which information can be found on Trimethylaminuria is the Metabolic and Genetic Information Center,
This page references an article, The Clinical utility gene card for: Trimethylaminuria, written in the European Journal of Human Genetics (2012) 20, doi:10.1038/ejhg.2011.214; published online 30 November 2011, by MEBO's Scientific Advisor, Drs. Elizabeth Shephard, and colleagues, Drs. Ian R. Phillips and Eileen P Treacy. We thank Drs. Shephard, Phillips, and Treacy for their unending support and guidance to MEBO Research through the years.

María


María de la Torre
Founder and Executive Director

A Public Charity
www.meboresearch.org
www.brasil.meboresearch.org
maria.delatorre@meboresearch.org
MEBO's Blog (English)
El Blog de MEBO (español)
MEBO Brasil - Blog (Portuguese)



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