Source:

http://morisset.yourguide.com.au/news/local/news/general/life-when-fa-hits/1353624.aspx

 

Life when FA hits

BY DAVID QUICK

 

6/11/2008 1:00:00 AM

 

THE first hint that Cheryl Wilson had a medical problem was when she was unable to walk across a simple plank over a narrow gully while at a Church Girls Brigade camp.

Then 28, Cheryl dismissed the incident until years later when a surgeon friend commented on her 'irregular' gait and delicately suggested she might see a specialist.

  

 PERKY: Despite her condition, Cheryl Wilson remains cheerful making greeting cards

 

"The specialist said he was 99 per cent sure I had multiple sclerosis," Mrs Wilson said at her Henry Kendall Bayside Village home last week.

Subsequent tests revealed Mrs Wilson's condition wasn't MS, but a degenerative neurological condition which her husband Graham suspected was a rare disease known as Friedreich ataxia.

"I found it on the internet. Slightly slurred speech, difficulty in walking and poor co-ordination are some of the symptoms of FA applied to Cheryl," Mr Wilson said.

At first the specialist doubted Mr Wilson's suggestion that his wife's condition might be the ataxia.

"It usually strikes young children who rarely live beyond 30, but the specific test for FA, which became available in 1995, confirmed the fact that Cheryl has FA," Mr Wilson said.

Mrs Wilson's condition has predictably worsened with the years, and she is now basically confined to a wheelchair.

While there is yet no cure, Mrs Wilson maintains a perky optimism and pursues her hobby making greeting cards.

"I'm lucky in that I have a very supportive husband and family; even our grandchildren are supportive, and we have eight of those," she said.

Australia, where about one in every 30,000 people is estimated to have FA and one in every 90 people carries the altered gene, is a world leader in FA research.

The research receives no government funding but relies on volunteers like those in FARA (Friedreich Ataxia Research Association) with includes YAFFA (Young Australians Fighting Friedreich Ataxia). 

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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