http://health.groups.yahoo.com/group/FA_babelFAmily/message/1933 (ENG)

 

 

 

Australian FARA video

“Friedreich ataxia:  The unknown disease”

 

http://www.youtube.com/watch?v=9y-LGq4YXMs

 

Transcription by Marion Clark

 

 

Tom-Tom Productions

tomtom@...

 

 

 

 

Kim:  I never thought it would be inevitable that people would start treating me differently.  I never thought that.  And I want people to look at me as Kim.  Not as--you know--the girl in the wheelchair with the rare disease.  I don’t want that!  I’d—I’d--I would prefer to be Kim with the freckles, rather than Kim with the Friedreich’s.

 

 

Friedreich ataxia

The unknown disease

 

 

Associate Professor Martin Delatycki,

Murdoch Children’s Research Institute

 

 

Dr. Delatycki:  Friedreich’s ataxia is a genetic disease that causes degeneration in the nervous system.  It is devastating, because it affects young children who were previously very healthy, and suddenly they become more and more unsteady.  They ultimately need the use of a wheelchair, and tragically their life is shortened. 

 

Emma:  My favorite one is the G note…here.  (sings) Mary had a little lamb…

 

Narrator:  Nine-year-old Emma was recently diagnosed with Friedreich ataxia.  In every other way, for now, her life is almost normal.

 

Emma:   It is this…

 

Emma’s dad:  Well, she was a very early walker…so she was away before a year.

 

Emma’s mom:  She walked at nine months.

 

 

Emma’s parents

Karen and Ian 

 

 

 

Emma’s dad:  And she was always active and always into everything, and then from around about the age of 5, 5 ½, she was on a bike, and she kept being quite uneasy.  And…it was just a difficult…We didn’t know what it was--we thought maybe that she’d just lost confidence…

 

Emma’s mom:  You just put those things…

You can always find excuses when they’re kids…

 

Emma:  And this is my room.  I have…

 

Emma’s mom:  They’re good sisters; they’re good mates.  Um, they fight of course, like all kids, but um…you know….Lauren’s what, six?  But Lauren helps Emma every day with her school bag at school.

 

Emma’s dad:  Walks her…in to school with her, just so that she’s uh, yeah, so that she gets in there OK…yeah, they are, they are good mates.  And Emma’s got good support in her sister.

 

Emma’s mom:  Yeah….

 

Emma’s dad:  Even though she’ll probably tell you that she’s not. 

 

Emma’s mom:  Ah, they are--they’re good, they’re good friends…

 

Narrator:  As a teenager, 43-year-old Kim nursed her brother through Friedreich ataxia.  Then at 20, she herself was diagnosed with the disease.

 

Dr. Delatycki (in background):  Try to do it…left hand….

 

Kim:  Total confusion…I had my whole life mapped out…I didn’t tell my parents…I waited for my sister to get back from England and told her, said, “You can tell Mum and Dad…”  Just couldn’t do it to them.

 

So I decided to leave my job and go to Queensland.  One day when I was up living in Noosa, I went to bake something…I thought, “Oh blow, I’m out of flour.”  So I went down to the supermarket.  I was going down the aisle trying to find flour, and there were two old ladies.  And it was about 9:30 in the morning.  So I found the flour, and I walked over and got it.  And one old lady said to the other, “Ohh!  Did you see that?  She’s come out from probably one of those night things.  Look how drunk she is!  I just stood there and said, “I’m not drunk!”  “Ohh!  She even sounds drunk.”  I just put the flour back on the shelf and went home.

 

Dr. Delatycki:  This is Murdoch Medical Center, where we hold the Friedreich ataxia clinic once every month.  The Friedreich ataxia clinic we run is the only one of its kind in the world.  It is a multidisciplinary clinic which is dedicated purely to Friedreich’s ataxia.

 

 

The aim of our clinic is to improve quality of life.  That’s our number one aim, and we believe we’re succeeding in that.  What I always tell medical students, when they say, “It’s untreatable”….I say, “It’s not untreatable.”  There are many treatments for Friedreich’s ataxia that can improve quality of life.  Treating the heart can definitely prolong life, and all the various therapies that are used definitely improve quality of life.  So even though we don’t have a cure at the moment, there are many treatments.

 

Kim:  I don’t look at a cure.  I won’t look at a cure.  But I would love something to stabilize it…I really would…that would be…heaven-sent.

 

Dr. Delatycki:  There’s absolutely hope.  The gene for Friedreich’s ataxia was only discovered ten years ago, but in that time we now understand what happens in cells…when the gene fold happens.  And so then, therapies are being developed that are based on understanding of what’s happening in the genes, what’s going wrong…

 

And so there are now 6 or 7 drugs around the world that are being tested to see if they benefit people for Friedreich’s ataxia.

 

This was not even dreamed of ten years ago.

 

Narrator:  Australian medical researchers are among the world’s best.  And the team from the Bruce LeFroy Centre, at Melbourne’s Murdoch Children’s Research Institute, are at the forefront of international efforts to find treatments for Friedreich ataxia.

 

There is light at the end of the tunnel.  Just how fast we get there depends on resources.

 

 

Dr. Joe Sarsero,

Murdoch Children’s Research Institute

 

 

Dr. Sarsero:  So we hope to start clinical trials, that is trying them out on actual people with the condition, in..hopefully in the next two years or so.  And if anything proves fruitful, hopefully they might be in use, perhaps 5 years or a little bit after that.  But it’s always very difficult to put an exact time frame on some of the work that we do.

 

Dr. Delatycki:  It’s very much harder to get funding for rare diseases.  But as you now from Kim and Emma, they deserve to have their disease researched and cures found for their disease, as much as someone with a common disease. 

 

Kim:  We’ve got the people on our side.  We just….It’s like anything…we need money.  All the time…it just comes back to finances. 

 

Emma (playing with her sister):  This….is a rare diamond.

 

Emma’s dad:  It’s not…it doesn’t change your day-to-day perception.  I mean…We’re more so…I’m…we’re more so looking 5-10 years down the track when this is going to be really taking hold of her and stopping her from doing what a normal teenager would do, and that’s, that’s the parts that really pain us…

 

Emma’s mom:  We have to be strong for them, you know?  Have to…they’re….We’re the parents, they’re the kids.  So…Got to keep things as normal as we can, for them, don’t we?

 

Emma:  At the end, I might have to be in a wheelchair, but not yet.

 

Emma’s mom:  And how do you feel about that?

 

Emma:  Well, that’s okay!

 

Emma’s mom:  It’s okay?

 

Emma:  Yes!

 

 

For further information

and to make donations

please call (03) 8341 6228

or email

brucelefroy@...

 

 

Bruce Lefroy Centre for genetic health research

 

 

Murdoch Childrens Research Institute

                   Healthier Kids. Healthier Future.

 

 

Friedreich Ataxia Research Association

http://www.fara.org.au/ 

 

Rotary International

 

 

www.tomtomproductions.com.au

 

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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