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🦓 Rare Parents Tackling Rare Diseases - article

  • 1.  🦓 Rare Parents Tackling Rare Diseases - article

    Posted 01-06-2023 10:11
    This article interviews three rare disease parent advocates who are each dedicated contributors to Global Genes. Mike Graglia, Casey McPherson and our own Effie Parks.

    Effie: "I would encourage any family to poke around in places like Once Upon a Gene, and to think about what you need in your life, whether it is self-care, or advocating at the doctor, or deciding if you want to fund research. Then just listen, and contact the people that speak to you, because they're going to support you if you want to help." #ctnnb1

    Mike: "We've moved as fast and as hard as we could to catalyze things," Mike concludes. "Companies are well aware that having a supportive, collaborative, well organized, low drama patient group to work with, helps them get things done, and we will continue to build Syngap Research Fund to develop an ASO to fix it." #SYNGAP1

    "As much as I appreciate advocacy and bringing the community together, what I saw were scientists and biotech companies, patting family foundations on the head saying: 'Keep putting those patients together. Keep getting that natural history study. Keep organizing your group, and maybe one day you'll get lucky and we'll make a drug for you.' That made my blood boil," he admits. #HNRNPH2

    Read the article here.


    Daniel DeFabio

    Global Genes
    Director of community engagement