Dup15q Mom Stresses the Importance of the Internet
Sarah Ramussen is the mother to a son with chromosome 15q11.2-q13.1 duplication syndrome; otherwise known as Dup15q syndrome.
The genetic disorder is neurodevelopmental, caused by a partial duplication of Chromosome 15, and can result in developmental delays including a high risk for autism spectrum disorder and epilepsy.
Ramussen’s son Jack is a patient with Dup15q, and, like any parent, she went to the internet after hearing the diagnosis. Shortly thereafter, she found others in a situation similar to hers, and the bonds formed eventually transformed into the Dup15q Alliance. In this video, she stresses the importance of using the internet when working with a rare disease.
Rasmussen: Well, when we did get the diagnosis for my son, like any other parent with a rare disease, we went online looking for anything we could. My son was diagnosed in 2003 and, at the time, the Dup15q Group – which is now the Dup15q Alliance – was on a Yahoo! list serve. It was a little clunky, but it was a group of families, a geneticist, some other people, and it was a way to connect, to talk, and find out what’s happening. That has now morphed into this… amazing multiple Facebook groups within our organization, and a beautiful website that is very specific.
Like, if you’re a provider. We live in Vermont, my son has physical therapists, occupational therapists, speech therapists, and special ed. teachers who have never had somebody like Jack. They have access now to go online to our website and tap into that. The physicians and doctors have their own component within our websites – the Facebook, the networking, the group discussions.
Unfortunately, we do have some families who have lost their children to this. It (allows) the mom, the dad, the families who have lost their children to know that they’re not alone; we’re all grieving with them. It provides you the opportunity, when your 13-year old still needs to get in a car seat that doesn’t exist on the general market, to go onto Facebook and put that up. “What are you doing for your high school kid who still needs a booster seat? How are you addressing that?” Within hours – within minutes – you’re getting answers. At the end of the day, you have more information than you ever needed to know.
The social media has been a huge component to help us, as families, to connect around the world, help us organize conferences, and I just feel like there’s somebody out there. I’m not just by myself in Vermont in this little town trying to figure out what’s best for my son. I know what’s best for him, but it’s always nice to have other people back you up on your choices or give you some other ideas and other options that you hadn’t thought of.
To visit the Dup15q Alliance on the internet, visit their site: dup15q.org
For more patient, caregiver and family stories from within the rare disease community, follow Rare Disease Report on Facebook and Twitter.