Jamie: I have Friedreich’s Ataxia (FA), which is a hereditary recessive neurological disease. Recessive means it stays hidden in the genes as long as there is a more dominant trait to take the forefront. But, as this one is passed down from both the mother and father, if a child gets a recessive Friedreich’s gene from each of them, then they have it. No one in my family had it or showed signs of it. But when my clumsiness became a bit excessive in my teen years, several trips to the doctor and lots of tests discovered I had this disease no one in my family had ever heard of.
What FA does is tangle up the DNA in my nerve cells, so they can’t produce Frataxin, a protein that breaks up iron in the mitochondria of nerve cells. The less Frataxin my body makes, the more the iron builds up and the less my nerves work. This results in a lack of coordination, fatigue, potentially fatal heart problems and a progressively downward spiral of abilities.
 
There is currently no cure and no treatment for the Frataxin deficiency, although there is always vitamins, antioxidants and physical therapy to treat the symptoms.
 
There are, however, about 7 different drugs in Phase II and III clinical trials around the world. Several of these show quite a bit of promise in combating FA.
 
While reading on one of my ataxia email lists, I learned of a project BabelFAmily was doing to help raise funds for research into these and more drugs. The International Literary Project to Fight Against Friedreich’s Ataxia is a project with writers, translators and artists from around the world working on one novel that will be sold in multiple languages and formats. Our fiction novel is titled The Legacy and combines mystery, murder and love with the last 160 years of discoveries about Friedreich’s Ataxia.
 
We are all very excited and in love with this project. There is so much in it to feel passionate about. We are close to finishing the first draft of writing and translations into the main writer languages: English, Spanish, Portuguese and Italian. As soon as edits are finished, we have translators lined up to add German, French, and many more languages.
 
We ask that anyone with an interest in supporting this project and cause LIKE the project’s page on Facebook. We have a logo made and will be passing it around to anyone who would like to make it a banner on their website. All free of charge, we just want to gather awareness of this cause.
 
Thank you, so much, Sandy for giving me a chance to speak about The International Literary Project to Fight Against Friedreich’s Ataxia. (...)

Source/read more: The Reading Cafe

 

 

The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

Paperback and Kindle versions for "The legacy of Marie Schlau" available for sale at Amazon now!

https://www.amazon.com/Legacy-Marie-Schlau-collective-Friedreichs-ebook/dp/B01N28AFWZ

 

Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:

https://www.irbbarcelona.org/en/news/international-patient-advocates-partner-to-fund-spanish-gene-therapy-project-to-treat

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:

https://www.irbbarcelona.org/en/news/new-research-front-to-tackle-friedreichs-ataxia
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.

 

 

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