Friends and Supporters,
Today is going to be a little different post than the previous 12. We aren’t going to highlight a child with a rare disease, but rather a researcher and his team that are working hard to understand, find therapeutic treatments, and find a cure for rare diseases. That researcher’s name is Christian Schaaf. Sound familiar… Schaaf-Yang Syndrome (“SYS”). Yep, that guy.
I want to give you a sense of who Christian Schaaf is through a couple of short stories.
The first occurred in the days after we received Hayden’s diagnosis. Through Google searches we quickly found information on SYS and a couple of talks Christian had given. That same Google search found his email address. We figured, who better to contact to understand what Hayden is facing than the guy who discovered the disease? However, we didn’t expect to get a response back; he was likely too busy or onto the next project… but we were wrong. Not only did we get a response back, but he sent us information and resources and offered to talk to us at any time, which of course we took him up on.
The second is the first time we met him in person. We met him for dinner with a large group of people. He sat across from us at the table. During the conversation, Courtney asked him how to pronounce his name so that we can be sure to address him appropriately. Is it a “short a” sound or a “long a” sound? His response was priceless and shows who he is to the SYS community. He responded, “It’s easier if you call me Christian.” So personal, so natural, so genuine. He understands what this community is facing and recognizes the personal struggles we go through; he wants to make personal connections.
The last story is when I asked him a question at the conference about how we could best help him and his team to advance research on SYS. His answer, of course, included responding to research requests, building our SYS community, and the typical things you would expect. However, he finished by telling us to make sure we made his team have a personal connection to our children. He wanted us to know that he and his team didn’t view their work as experiments with rats and mice or neurological cells in lab – all of which are incredibly important. He wanted us to know the work they were doing was for our kids, the kids we love, the kids we advocate and have big dreams for.
Over the past two years, with your support we have raised enough money to fund a post-doctoral researcher in Christian’s lab in Heidelberg, Germany. Your support is providing him and his team with the resources they need to make real progress in fully understanding the MAGEL2 gene and researching how to create therapeutic treatments for our kids. In fact, the new researcher in his lab is developing new tools for understanding SYS that will be used by his team and researchers across the world. This new researcher is developing an antibody against the MAGEL2 gene and establishing a functional assay of the MAGEL2 gene. Like I mentioned, real progress.
We are so grateful that we have such a strong, dedicated team making progress in MAGEL2 and SYS research. Not every rare disease community can say the same thing.
Christian, Ferdinand, Henning, Janis, Moritz, Laura, Pilar, Tim, and the rest of the team we haven’t had the opportunity to meet yet, thank you. The SYS community appreciates what you do for our kids. Keep it up.
To donate to help to continue to fund research to help find therapeutic treatments or a cure for SYS, please donate at www.faithforhayden.org/donate.
With love,
Matt and Courtney
