Hi! I’m Liz Marfia-Ash, and the idea for this website came about after my then 18 month old daughter was diagnosed with a GRIN2B variation, and I was frustrated by the lack of information and resources available to me. You can read more about the origins of this website here.
The original goal of this group was to offer support and share research to the small, but growing community of families whose children have been diagnosed with alterations on their GRIN2B gene. We still have the same goal, only now we are becoming more organized and forming a non-profit.
If you are an extended family member or friend of a child who has been diagnosed with GRIN2B, thank you for taking the time to visit our site. Your interest in understanding how our children are affected is much appreciated! Please head on over to our Resources page and take a look at our Recommended Reading for extended families.
If you are a newly diagnosed family, you may be feeling confused and overwhelmed. We recommend you start by reading our Common Questions page first. Keep in mind that everyone processes the diagnosis differently. Some may want to dive into the research, but others may be understandably overwhelmed by all the complex medical terms. It is perfectly acceptable to give yourself a little bit of time to come out of the initial fog of diagnosis before you attempt to read through all the research. Please continue to check this page for updates as the research on GRIN2B is constantly changing and emerging.
There are a couple of current studies being done on GRIN2B variations, and you can learn more about them on our Research page. We encourage you to register with the Simon’s Variations in Individuals Project, an online community and research initiative studying many different genetic changes, including GRIN2B.
Please contact us if you have any questions or if you know of information that is missing from our website. This is a parent-run site, so we can only continue to be up-to-date when we all share information.
Don’t forget to like us on Facebook and join our private Facebook group (for parents and caregivers only) to connect with other families. The more we can help and support each other, the stronger we all will be as families.
As of July 2017, we have formed our Board of Directors and submitted all the necessary paperwork to be recognized as a 501(c)(3) tax-exempt organization by the United States government. Once we are approved, we will add a donation link. We are currently speaking with similar groups so we can determine how to best move forward. This is a parent-run organization and we are newbies in this process so the learning curve is steep. We ask for your patience as we navigate through this unfamiliar process. If you have any experience in the following areas – fundraising, graphic design and/or legal – please reach out to us. We will need more volunteers down the road to help us grow.
I truly believe it is important for us parents to take action in regards to the development of our children. In just two years, our private Facebook group has grown from 3 U.S. families to over 100 families from all over the world. I have seen firsthand that no matter how attentive and skilled the doctor is, no one is going to care as much about understanding how GRIN2B affects our children as we parents will. It is our job to stick together and drive the ongoing research so we can come to a better understanding of what our children are facing and how we can best help them. Though each child is impacted slightly differently by their specific GRIN2B change, they are all deeply loved and adorable, and they deserve to be seen as more than just “puzzles” or “mysteries.” Let’s work together to help unravel their mysteries and change the narratives surrounding our kids.