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  • Links - Canadian Association of Pompe
    Rare Disease Foundation Regroupement québécois des maladies orphelines The Canadian MPS Society The National Gaucher Foundation of Canada Resources Canadian Clinical Trials Coordinating Centre ClinicalTrials gov Myozyme Home Page Orphanet Canada PCORI Patient Centered Outcomes Research Institute Pompe Community Wikipedia Pharmaceutical Companies Amicus Therapeutics Audentes Patient Advocacy Audentes Therapeutics BioMarin Pharmaceutical Inc Genzyme a Sanofi Company Oxyrane Please contact us if you have a link to add or if you

    Original URL path: http://www.pompecanada.com/links/ (2016-02-13)
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  • Connections - Canadian Association of Pompe
    for that to happen With things like Facebook Twitter bogs etc we really do live in a different world We ve tried to provide links to some of the social media opportunities that we all have to connect Please let us know if you would like us to add another We would be very happy to Facebook Australian Pompe Association Canadian Association of Pompe Canadian Fabry Association Cure Pompe Disease Glycogen Storage Disease GSDNet Pompe Bulletin Pompe Friends Pompe Meetings Upcoming Twitter André Picard Audentes Therapeutics Australian Pompe Association BBC Health News Canadian Association of Pompe CanMPSSociety CBC Health News CBS News Health Christine White National Gaucher Foundation CORD David Cox Rare Disease Foundation Durhane Wong Rieger Emma Rooney Gaucher s Disease Genzyme Corporation Give Rare Global Genes Globe Health Health Canada Isabel Jordan Rare Disease Foundation John Adams Canadian PKU and Allied Disorder CanPKU CORD L A Times Health Lizzie Howard MDA USA Mommies of Miracles Monique E Griffin MuscularDystrophyCDA National MPS Society NBC News Health Newborn Screening ON NORD NPR Health News NYT Health NYTimes Well Orphanet Canada PCORI Patient Centered Outcomes Research Institute Rare Disease Day Rare Disease Report Rare Disease Team Rare Diseases Rare Diseases Network

    Original URL path: http://www.pompecanada.com/connections/ (2016-02-13)
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  • Annette's Story - Canadian Association of Pompe
    asleep anywhere We changed a few things but really nothing helped I just concluded that this was the way it was supposed to be after having two children I couldn t ride a bike with the family anymore We would go for a walk instead but I couldn t go very far before I was out of breath Still I continued to blame it on the demands of a mother of two busy children and on myself for not getting enough exercise It was evident to myself and my family that I simply could no longer do what I LOVED doing such as going on field trips with my children s classes I was finally diagnosed with Pompe Disease in 2004 the only person in the province with this very rare genetic disease As of October 1 2014 I received my 1 st treatment of Myozyme in my province of New Brunswick I have noticed improvement in different things I don t take naps everyday I seem to have more energy My Pulmonary Function Test has improved since last year People say I look healthier happier and seem to get around better I am so very Thankful for receiving this

    Original URL path: http://www.pompecanada.com/personal-stories/annettes-story/ (2016-02-13)
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  • Trevor's Story - Canadian Association of Pompe
    second birthday With this being said I brought Trevor home I exercised Trevor s tiny body several hours per day soon he was holding his head up He began to be able to bare weight on his legs and then could sit by himself I modified a ride on car so he could sit in it and move his legs and follow me around the house It worked like a walker but was a car This helped make his legs stronger so eventually he would be able to walk Trevor walked at about two years old as most kid walk when they are around a year When Trevor was five years old the Children s Wish Foundation of Canada granted him his wish of a computer With this computer is the first time I had hope that maybe I would be able to save Trevor s life I found out there were companies working on a treatment for Pompe Disease I made phone calls and wrote letters to see if I could get Trevor on one of the trials I had no success Trevor attended school with a full time nurse by his side He needed help with almost everything he did at school and at home Trevor accepted every hurdle that was given to him as a challenge and mastered it Living with a failing body never fazed him he just carried on and enjoyed life Trevor even managed to attend two years of College until the H1N1 flu bug hit then I pulled him for his safety Life carried on with many hurdles and hospitalizations At the age of thirteen Trevor started to decline very fast He ended up in a wheelchair At that point ERT enzyme replacement therapy was permitted to cross the boarder and Trevor started

    Original URL path: http://www.pompecanada.com/personal-stories/trevors-story/ (2016-02-13)
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  • Lorena's Story - Canadian Association of Pompe
    diagnosis on the same day It was then 2002 ten years since the first attempt to diagnose my condition The metabolic specialist informed my husband and I that there was no cure for the very rare disease I had and that I was terminal with approximately two years to live During those two years I was told that I would likely become wheelchair bound in the first year and require a tracheotomy to breathe shortly after that as the disease impacts the ability to breathe Without treatment this is the prognosis for most Pompe patients However I was also informed of a possible treatment one that wouldn t cure the disease but would slow or even halt its progression Since it was an experimental therapy Myozyme I didn t qualify for it and so had to wait until it was approved by Health Canada and there was assurance that the government would cover the cost So I simply had to wait it out and hang on Because I didn t want my husband to raise our young daughter on his own in the city we sold our home and headed to a small Alberta town I was falling more often and having breathing issues However I continued working adapting my job to make it handicap friendly Finally in March 2010 I was eligible for Myozyme Enzyme replacement therapies are delivered via an infusion process that requires me to be at a Calgary hospital all day every two weeks I began the series of infusions Once on Myozyme the progression of my disease stopped and I started to get my energy back an incredible feeling After each infusion I have so much more energy and can get more accomplished Little by little I have been getting my life back and setting

    Original URL path: http://www.pompecanada.com/personal-stories/lorenas-story/ (2016-02-13)
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  • Noah's Story - Canadian Association of Pompe
    up negative After a week of blood work and no answers Noah was transferred to Sick children s hospital in Toronto After a three week stay and much tears and unanswered questions as to why Noah had an enlarged liver and heart the Doctors finally sat me down to deliver the news that Noah was diagnosed with a rare condition called Infantile Pompe Disease The news was a bit overwhelming because the entire room was filled with not only the metabolic team but also the respirology and cardiology teams After diagnosis After learning that Noah had Pompe Disease I immediately quit my job to become his sole caregiver The metabolic team immediately started Noah on enzyme replacement therapy because he was starting to lose the mobility in his legs Two weeks after receiving his first infusion Noah had surgery to have a Port A Cath inserted in order for him to continue receiving the Myozyme without having to be poked every other week Then within two months Noah had to undergo another surgery to have a tonsillectomy as his tonsils were obstructing his airway causing Noah to rely on oxygen to breathe Having a six year old living with Pompe comes with many challenges Visiting the day unit every other week for his infusion Speech therapy due to the weak muscles causing Noah to have a speech impediment not to mention physiotherapy as well as occupational therapy Then there are subsequent visits to the cardiologists as well as the respirologist and the metabolic geneticist Just simply going up or down the stairs is a struggle for Noah Getting on and off the bathroom seat going in and getting out of the bathtub Things we take for granted poses a challenge for Pompe patients Today Noah is on a BiPAP machine

    Original URL path: http://www.pompecanada.com/personal-stories/noahs-story/ (2016-02-13)
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  • Inequities Between Provinces in Treating Rare Diseases - Canadian Association of Pompe
    disease The genetic disorder affects only about one in 40 000 people and causes a progressive weakening of heart and skeletal muscles Over time it can be fatal But although Tagged Awareness getting treated Orphan Drug Framework Share this Facebook Twitter Google LinkedIn Related Recent Posts Inequities Between Provinces in Treating Rare Diseases Rare Disease Strategy Urgently Needed to Help 3 Million Canadians BioMarin Announces Interim Analysis of INSPIRE Clinical Trial in Pompe Disease at 34th Annual J P Morgan Annual Healthcare Conference Sanofi Genzyme Announces Recipients of Patient Advocacy Leadership PAL Awards Amicus Therapeutics Commences Phase 1 2 Study of Novel ERT for Treatment of Pompe Disease Categories Awareness CAP News Education Events Interviews Living with Pompe News Press Releases Research Studies Tags advocacy awards Awareness CAP chaperone CORD eLearning Emma Rooney ERT Extraordinary Measures Fabry fundraising Gaucher gene therapy getting treated grants guest blogger Int l Pompe Day IPA late onset living with Pompe meetings Muscular Dystrophy Canada MyNormal newborn screening Orphan Drug Framework Orphanet politics pregnancy Rare Disease Rare Disease Day trials video Recent Posts in this Category Inequities Between Provinces in Treating Rare Diseases Rare Disease Strategy Urgently Needed to Help 3 Million Canadians BioMarin Announces

    Original URL path: http://www.pompecanada.com/blog/news/inequities-between-provinces-in-treating-rare-diseases/ (2016-02-13)
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  • Rare Disease Strategy Urgently Needed to Help 3 Million Canadians - Canadian Association of Pompe
    MPS I at the age of five Speaking at the event Nicklas said Ten years ago my parents and I along with many other families rallied at a similar Health Ministers meeting so that all Canadian patients with MPS I could access the same life altering treatment I was receiving We knew treatment would make the difference between progressive loss of mobility hearing and sight and a normal life We were all thrilled when the Health Ministers agreed not only to fund the therapy but also to bring in a national rare disease drug plan Today I am happy to be proof that the drug works but I am also sad that rare disease patients are still standing in picket lines and appealing for live saving treatment on a case by case basis I urge the Health Ministers to honour their promise made in 2005 and provide other Canadians with rare diseases the same chance for life Fred Horne former Alberta health minister and Adjunct Professor at the University of Alberta School of Public Health moderated today s event It s time for Canada to catch up with other countries and recognize that access to rare disease therapeutics is part of mainstream healthcare Canada s Rare Disease Strategy is a plan that we can implement now Canada capitalizing on strong genomic research and an impressive clinical expertise leads globally in the study of rare diseases such as genetic neurometabolic diseases said Dr Sylvia Stockler researcher professor and specialist with the Child Family Research Institute University of British Columbia and BC Children s Hospital Rare disease research also translates to benefits for common conditions Robin Sherrington Senior VP Business and Corporate Development Xenon Pharmaceuticals Inc provided a perspective from the pharmaceutical sector Entrepreneurs scientists governments and investors must embrace a Rare Disease Strategy that not only advances development and approval of innovative treatments but also assures access which ultimately improve the lives of all patients and generates economic opportunities About Canada s Rare Disease Strategy Based on extensive consultation Canada s Rare Disease Strategy establishes five major goals specifying 20 practical actions The five goals are improving early detection and prevention providing timely equitable and evidence informed care enhancing community support providing sustainable access to promising therapies and promoting innovative research For the complete plan go to www raredisorders ca canadas rare disease strategy Follow us on Twitter at Canada4Rare About the Canadian Organization for Rare Disorders CORD CORD is Canada s national network for organizations representing all those with rare disorders CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders CORD works with governments researchers clinicians and industry to promote research diagnosis treatment and services for all rare disorders in Canada www raredisorders ca Follow the panel discussion and the Economic Club Series on Twitter Canada4Rare SOURCE Canadian Organization for Rare Disorders Image with caption The Canadian Organization for Rare Disorders CORD is urging Federal Provincial and

    Original URL path: http://www.pompecanada.com/blog/news/press-releases/rare-disease-strategy-urgently-needed-help-3-million-canadians/ (2016-02-13)
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