Although there remains no approved medication to treat the disease, clinical studies are currently being conducted. However, such near-term hope was not always the case, as Raychel Bartek said: "When Keith was diagnosed, I asked the doctor what medicine she would prescribe for him. Her eyes were watering when she said, 'There's nothing he can take.'"
Regarding the lack of treatment options, Ron Bartek added, "The prognosis was awful for Keith."
Unfortunately, millions of families have experienced the same frightening diagnosis of a rare disease that doesn't have any known treatments. In fact, there are more than 1,200 recognized rare diseases, defined as those that affect less than 200,000 people in the U.S. According to the National Organization for Rare Diseases (NORD), roughly 25 million Americans suffer from such a condition.
Like his parents, Keith dedicated his life to raising awareness of the disease, hoping to drive research. "He may have only lived 24 years, but in those 24 years he inspired a lot of people to do the right thing and to accelerate research," Raychel Bartek explained. "Twenty-four years isn't a lot of time for any of us, but he had a purpose in his life and he knew that when he died."
"Because of the relatively small number of patients affected by these rare diseases, many have been historically under-treated," said PhRMA's Tauzin. "That's why America's pharmaceutical research and biotechnology companies continue their commitment to patients suffering from these so-called 'orphan diseases,' and much of that commitment has been facilitated by the Orphan Drug Act."
The Orphan Drug Act provides seven years of market exclusivity to medicines approved to treat a rare disease. Since its passage, the act has spurred increased research for under-treated patients. According to a recent report by the Tufts University Center for the Study of Drug Development, the 425 orphan drug designations for products in development between 2006 and 2008 represent more than twice the number of designations -- 208 -- for the period from 2000 to 2002.
The illnesses being targeted by current rare disease research include rare cancers, autoimmune disorders and cardiovascular disorders. According to a PhRMA survey, some examples of medicines being developed for rare diseases are: a monoclonal antibody for chronic sarcoidosis, an immune system disorder; a medicine for Lennox-Gastaut syndrome, a severe form of epilepsy; a gene therapy for cystic fibrosis; and a medicine for Friedreich's ataxia.
In fact, a 2006 report released by PhRMA and NORD found that more than 160 new medicines for these illnesses had been approved in the decade between 1995 and 2005, compared with 108 such approvals in the decade prior, and fewer than 10 in the 1970s. Many of the new medicines were the first approved to treat a particular disease.
"This recent progress has given under-treated patients access to treatments they've never had before," Tauzin said. "Looking ahead, we will continue to encourage accelerated research in the field of rare diseases and to provide hope for millions of patients to live happier, healthier, more productive lives."
The Pharmaceutical Research and Manufacturers of America (PhRMA) represents the country's leading pharmaceutical research and biotechnology companies, which are devoted to inventing medicines that allow patients to live longer, healthier, and more productive lives. PhRMA companies are leading the way in the search for new cures. PhRMA members alone invested an estimated $45.8 billion in 2009 in discovering and developing new medicines. Industry-wide research and investment reached a record $65.3 billion in 2009.


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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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