My daughter was born with developmental delay and epilepsy along with a myriad of other conditions that make her unique. Being the parent of a differently abled child is isolating to begin with, but I had never seen another child like my daughter. I didn't know what she needed for therapy, how she would be when she got older, what medications might help improve her quality of life. I had nothing. A few years ago, we had genetic testing done and found that she carried a mutation in the Syngap1 protein. It's not known whether her variant is pathological or not, but the more I researched, the more I could see that her symptoms matched those of other children with Syngap1. When I came across the Syngap1 Foundation's website, I was overwhelmed by all the scientific articles and lack of information given by our geneticist. The foundation's CEO personally welcomed our family, as did many members of the community. Finally, I had a space where I could share with other families that could relate to what I was going through. Throughout the years since, I have connected with other Syngap1 families in my state, and around the world. They provide information I would not know how to gain access to and are always looking for research opportunities to improve the quality of life for children with this rare disease. I know that I will always have an advocate from this foundation.
This nonprofit organization has been instrumental in building awareness for children with rare gene disorders.
When I received the genetic diagnosis of Simone, my son, it was like falling into an abyss. I didn't know anything about what Syngap1 was and at the time perhaps not even in Italy much was known. So I put a notice on the Facebook wall with a request to forward it to friends and acquaintances as I was looking for traces of other parents of Syngap1 children. Monica Dudley Weston was the first to contact me and introduce me to the other parents at the Syngap1 Foundation. Since then this Organization has been that bridge that has supported me and to which, even today after many years, I turn. Thanks to the Syngap 1 Foundation, I and other Italian parents created our National Association and connected to the whole Syngap1 world. I am and will forever be grateful to the work of Monica and the Syngap1 Foundation.
Great Organization with a very focused and important mission. I have, and will continue to donate to SYNGAP1.
This organization has been amazing, honest, diligent, respectful and professional for the past several years since we’ve known this organization. This organization treats one and all the same and has the goal to help one and all families dealing with Syngap1 in the entire world!
A great organization devoted to the patients and families whole heartedly. Monica and crew are devoted to the science of Syngap1 but also the real life impact the disease has on the family. They are constantly pushing the science forward and involving the community to ensure the science is moving in the right direction!
The Syngap1 Foundation board members put their heart, soul and everything else into supporting Syngap1 patients and their families. This organization has fostered an amazing community of parents, volunteers, academia and medical professionals who's goals are to educate, support families and support clinical research leading to clinical trials. As a parent of a Syngap1 child I understand the importance of finding your tribe and having support where others may just not get it. Syngap1 Foundation is that community.
The SYNGAP1 Foundation is deeply committed to making a difference in the lives of children and families. With the help of committed families they have created a registry and have worked with the FDA on Patient-Focused Drug Development. They have supported research that advances the understanding of this mutation as well as its connection to other medical conditions.
We have been on the journey with our special needs warrior for 19 years. Every test in the book, countless specialists, therapies and the fight to find the cause. At 17 we found SynGap. Of course I googled and fb searched and found BTG. Without hesitation my reach out was met with love, welcoming, understanding and encouragement to join in a family meet up to learn. From that day I have had a family, a community, my tribe and I know the efforts are tireless to help our kids, to fight for each one!! In 2 years I have seen the encouraging progress and every day I am thankful. It’s home.
In just a few short years, Bridge the Gap has accelerated research in SYNGAP-1, epilepsy AND autism to warp speed. Their drive and determination are exceeded only by the commitment and expertise of its founder and dedication of its board and researchers.
My daughter Lizzy was i believe number 64 diagnosed worldwide with a extremely rare genetic disorder Syngap 1. I cannot put into words how fear and hopelessness crept into our life. I reached out to Monica Weldon who was at the time blogging about her sons condition Syngap1. Bridge the Gap Syngap ERF has done what would of taken decades in five years. I watched as Monica and her family changed their lives dedicating themselves to pursuing research and possible treatment for our babies. Never stopping till we get a cure for what is terminal. That is hope the foundations concern for each child and family is beautiful to witness and be a part of.
This group has and continues to provide an excellent support group to families whose children have all been diagnosed with the same rare genetic condition. It also provides associated articles in relation to some of the conditions of Syngap1, whilst at the same time provides updates specifically related to the diagnosis.