The Evanosky Foundation This foundation has been working to get newborn screening for Pompe Disease (and four other genetic conditions) approved on a state level. So far, they have succeeded in Illinois, and are now working on Missouri. Please visit their website to see how you can help.
Lysosomal Diseases Australia (LDA) Lysosomal Diseases Australia (LDA) is a national umbrella organisation formed to represent the interests of people effected by lysosomal storage disorders including their families and carers, to maximise resources available for support services, treatment and research.
LGMD-Diagnosis.org LGMD-diagnosis.org is a diagnostic program for individuals without a genetic explanation for their muscle weakness and is maintained by the consortium of foundations endorsing this diagnostic initiative. It offers both an online quiz for individuals and a new physician application to determine eligibility for free genetic sequencing. Eligible individuals who consent to participate will send in a saliva sample for analysis and will receive a genetic report that they can discuss with their physician for genetic counseling and proper disease management. 35 genes are tested for variants and results are provided directly to the patients free of charge. The website also provides links to all the foundations in this consortium. www.lgmd-diagnosis.org
Genetic and Rare Diseases Information Center Established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD), the Genetic and Rare Diseases Information Center employs experienced information specialists to answer in English or Spanish questions from the general public, including patients and their families, health care professionals, and biomedical researchers.
The Story of the Development of a Treatment for Pompe’s Disease by Kevin As Kevin describes the Blog: “I don’t know half as much about Pompe disease as I like to think I do. I was active in the patient community from 1993 – 2003 and had the privilege of watching the development of a treatment for Pompe disease at first hand. That is as much of a qualification as I have for writing this.”
Fight Pompe Juan Magdorag’s Blog detailing his fight against Pompe’s Disease.
Pompe Center Erasmus MC Rotterdam his website is used as a public tool to communicate information to patients, colleague-scientists/clinicians, genetic counsellors and others with special interest in Pompe disease.
Acid Maltase Deficiency Association
Your generous contribution will go a long way into improving the quality of life of Pompe Disease Patients worldwide. Donations go towards Pompe Disease Research.