Happy New Year my friends: 2015 ANNEUS MAGNIFICUS! Amazing news! A CURE for my sister Kim is within reach! Please help Kim go dancing! As many of you know, Kim suffers from Friedreich’s Ataxia, a hereditary degenerative disease similar to muscular dystrophy. Research can now modify the gene responsible for her disease and cure her. Researchers need help financing the last step before the clinical trials on humans. Should you wish to read no further and donate please use this link: https://canadahelps.org/en/pages/financer-le-developpement-dune-souris-modele-fund-/ Those of you who knew my brother Ian (who died of this disease in 2000) may remember that when we were in our twenties, research had found the chromosome responsible for the disease. We had found the street where the disease resided, and went looking for its house, which was done when the gene responsible for the disease was identified. Subsequently, research worked for many years to replicate the disease in a mouse, so that therapies could be tested on an animal model affected with Ataxia, before testing humans; a key step towards a cure that was accomplished recently. We found out that the gene causing this disease is responsible for creating a protein, frataxin, which rids the body of the iron we consume in our food. But because this gene has too many repeats of the recipe for the protein, the transductor gets confused and very little frataxin gets produced in people affected by the faulty gene. Consequently, they slowly get poisoned over the years with iron, as it gets lodged in the mitochondria of the muscles (responsible for creating muscle energy) and in the cerebellum of the brain (responsible for balance). People who suffer from Ataxia loose the neuro-muscular control of their hands and feet, and more importantly their balance. My brother Ian was in a wheelchair at 15. Prior to this he was very athletic. He played organized hockey from age 3, was swimming at 4 and doing karate at 5, asides from all the other sports he practiced recreationally with our father. My sister Kim decided upon her diagnosis at age 16 (she is now 36) to train really hard to keep walking as long as possible, with the goal to be healthy enough to benefit from an eventual cure. She goes to the gym and lifts weights 3 times a week and does a special training at the pool of UQAM, where she is finishing her doctorate in psychology. She is still walking (what a trooper!) with an adapted walker to go to university or to walk around the house where she lives by herself. Of course, she falls every day. She rarely hurts herself since she has learned to fall well, but sometimes it is tough. But she is tougher than that. She is serene and is one of the most courageous people I know. Five years ago, she was told to sit in a wheelchair, but she refused. In the last five years were made incredible breakthroughs in genetic modification. Amazingly, research can transform the sick gene by cutting up the repetitions in the recipe for the protein. This final step, prior to human clinical trials, is to insert it in a mouse sick with the disease. The researchers believe that not only will this stop the disease, but that it will REVERSE it. A complete CURE! All of Kim’s efforts to keep walking are coming to fruition! When the mouse gets cured, the last step will be to inject people with the modified gene in a clinical trial. We are one step away from curing this disease, after waiting all of our lives for this. Together we can cure Kim. The research group based at Laval University in Quebec City is gathering $10,000 (which will be matched by the Ataxia Foundation for another $10,000). By this weekend we will have raised $5,000 (of which Kim and I are responsible for $4,000). We have only 2 weeks left to find the rest, and we are mostly on our own. Ataxia is a very rare disease affecting only 300 families in Quebec (with many members per families). And as most people are disabled so young (in wheelchairs by 12-15 years old) and die young of this disease (my brother Ian passed away when he was 29), most families are traumatized emotionally and financially. That is why we need you, our friends, to help us cure Kim. I have kept the flame of hope alive inside me for so many years, and now we are so close. And it is none too soon: although Kim is still standing, she gets more and more sick with every meal. If you choose to help us, know that we will help more than Kim, and more than the families suffering from Ataxia since there are hundreds of similar genetic diseases that will benefit from this research (in all 500,000 people in Quebec, and millions in Canada and the United States). Please help us! It will really change our lives. And if you do, you can help us twice by writing a note along with your donation (anonymous or not), saying it’s for Kim Pellerin (For Kim Pellerin, you are brave! Or whatever encouragement you feel like giving her). That way, when the clinical trial comes, Kim’s name will be on the top of the list to get the cure. And if you know anyone who can help, please forward our plea. You will get a tax deduction for 50% of your donation, for you or your corporation. THANK YOU so, so much! We can only do this with you. Here again is the link to make a donation: https://canadahelps.org/en/pages/financer-le-developpement-dune-souris-modele-fund-/ Nathalie P.S. For my American friends, here is where you can contribute and get a tax deduction: https://consano.org/projects/62-development-of-a-therapy-for-friedreich-ataxia-based-on-gene-corrrection You can find the American link on the Canadian page too.
Posted on: Wed, 21 Jan 2015 07:32:50 +0000
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