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Why Lighthouses Are So Important in the Rare Disease Community

There’s something magical about a lighthouse. Something peaceful. Something melancholy. Something hopeful. Hope, that land is near. Hope, that you’re not alone, that you’re not lost at sea. I’ve always loved lighthouses. I remember when I saw my first one. It was shortly after I moved to Washington state from Montana where I grew up. It was called Point No Point, and it was all of those things to me. It was peace, there was a little bit of melancholy, and was always a place of hope.

I explored the outdoors in the Pacific Northwest just like I had back home and found wonderous things I had never seen before. I got a job as a bartender in a fine dining restaurant, so I worked late. I had the days to explore. I went to this beach often, to think, to walk, to sit in a special kind of environment I had always felt drawn to. I believe it was the first lighthouse I had ever seen, not many of those in Montana. I don’t live near that beach anymore. Today I live on an island with my husband and two kids. One of which was born with a rare disease called CTNNB1. I still think about the Point No Point lighthouse because of my brilliant friend, Mike Graglia, whose son’s rare disease inspired him to start an advocacy group called SynGAP Research Fund. In an interview on my podcast recently, Mike spoke of his “lighthouse” concept – the idea that what he is doing with his advocacy is building a digital lighthouse where he gathers the researchers, the clinicians, the diagnosed families, the undiagnosed families, and all the others in the SynGAP space. His idea of thinking about it like a lighthouse, trying to get all these people to gather and think about their gene and send out a constant beacon flashing “we’re here, we’re here, we’re

Family liking Waters

Mike Graglia

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