1. What is the SYNGAP1 Foundation?
SYNGAP1 Foundation is the leading non-profit patient advocacy group dedicated to improving the quality of life for patients and families affected by a SYNGAP1 gene mutation or variant. SYNGAP1 is a gene located in the brain that provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells and early brain development that affects future cognitive ability. Children born with a SYNGAP1 gene mutation or variant are affected by a variety of symptoms, ranging from mild to severe.
Founded in 2014, the SYNGAP1 Foundation was the first non-profit organization to begin supporting research for SYNGAP1 and one of the first to be established around a gene mutation rather than a disease. This focus on a specific gene has created broad interest in the organization because the SYNGAP1 gene and SynGAP protein are believed to be connected to many symptoms associated with other neurological disorders. While the organization’s programs and initiatives have expanded globally over the years, SYNGAP1 Foundation’s mission to provide SYNGAP1 awareness, advocacy, education and research support has remained focused and consistent.
2. What does a SYNGAP1 gene mutation do to the body and what are the symptoms patients typically face? What is the long-term outlook for patients?
A SYNGAP1 gene mutation can have far reaching consequences on early childhood brain development. The SYNGAP1 gene drives the creation of the SynGAP protein found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Connected nerve cells act as the “wiring” in the circuitry of the brain. Synapses change and adapt over time, rewiring brain circuits, which is critical for learning and memory. A SYNGAP1 gene mutation can depress SynGAP protein levels and cause disruptions in the synapses.
Children with a SYNGAP1 gene mutation can exhibit a broad range of symptoms, such as: learning disabilities, epilepsy, behavioral challenges, eating and sleeping difficulties, autism and sensory processing disorders. Symptoms vary from individual to individual and can range from mild to severe.
Early research suggests that SynGAP is the most abundant protein in the brain and that SYNGAP1 is a very large governance gene in the brain. Looking at the broad range of symptoms patients with a SYNGAP1 mutation have, it is likely that learning how SYNGAP1 functions could actually impact many other neurological disorders, such as strokes, schizophrenia and Parkinson’s Disease, to name only a few.
Gene therapy may hold some potential to help this patient population in the future. While promising, this avenue is unlikely to help all patients. Researchers are also looking at different types of variants that could lead to repurposing a drug for another disorder to help SYNGAP1 patients.
3. What are some of the biggest challenges patients and their families deal with who have this condition? Are there specific emotional, financial or physical challenges?
Families caring for a child with a SYNGAP1 mutation face many challenges finding needed resources, as well as connecting with experts who are willing to learn about the disorder and provide care beyond just treating the symptoms. Because this condition is so rare, data gathering, collaboration and clinical research are critical and often require the involvement of the physician and the care team.
The emotional impact on the family with a SYNGAP1 child can be devastating. Divorce and financial difficulties are common. There is a broad spectrum of symptoms. Some patients with a SYNGAP1 mutation are a bit more independent, but, for severe cases, patients may need 24/7 care. For caregivers who must also work, this is an ongoing challenge. Behaviors can become a serious concern, and many patients are institutionalized because it is no longer safe to have them in the home. Because SYNGAP1 is so rare, support services are very limited and vary state-by-state.
The physical challenges faced by these patients are many and complex. At least 50% of the patient population have uncontrolled seizures. Some have as many as 200 to 300 seizures a day, often falling and injuring themselves. Sleep disturbances are very common. Many have dangerous chewing seizures and must be on a feeding tube. Most have muscle coordination problems, and some are in wheelchairs. Patients are impulsive, and do not understand danger. Most patients perpetually range from a year to 6 years old in cognitive development. Living with these debilitating symptoms on a daily basis is a challenge ꟷfinancially, emotionally and physicallyꟷ to everyone in the family, as well as society.
4. What resources does the SYNGAP1 Foundation offer patients?
The SYNGAP1 Foundation is committed to supporting SYNGAP1 patients, families and caregivers by providing a wealth of resources to help them meet the many challenges they face. Detailed information about these and other resources can be found on the SYNGAP1 Foundation website.
Following are a few of the useful resources patients can access there:
- A comprehensive SYNGAP1 Resource Guide available in 6 languages
Families can take this pamphlet to their doctor to help them better understand SYNGAP1 and how to care for the patient. It provides an overview of SYNGAP1 basic biology and clinical description, what doctors need to watch for, types of seizures, first-line medications, contact information for Centers of Excellence experts, and other useful material.
- Clinical research studies
Much information is available on past and ongoing clinical research. Families are encouraged to get involved in current trials to help unlock the mysteries of SYNGAP1.
- ✓ SYNGAP1 Patient Registry
This unique rare disease patient registry collects information that helps provide opportunities for patients and researchers to collaborate.
- Webinar series
A comprehensive webinar series that covers critical topics as financial planning, transitioning from child to adult services, the Keto diet, managing behavior problems and other useful topics.
- Monthly and quarterly newsletters
The organization publishes online monthly and quarterly newsletters specifically written for SYNGAP1 patients, families and caregivers. They provide timely information about the SYNGAP1 Foundation and SYNGAP1-related news, events and articles of interest.
5. What outreach activities does the SYNGAP1 Foundation use to connect with patients?
In addition to the organization’s website, the SYNGAP1 Foundation can be found on all social media including: Instagram, Facebook, Twitter, YouTube, LinkedIn and Simons Searchlight.
SYNGAP1 families can also connect and receive support through a closed Facebook group. Family Meet Ups will resume once COVID-19 is no longer a concern. These meetings provide opportunities for patients and families to connect with other families and SYNGAP1 clinical and research experts.
6. What volunteer opportunities are available with the SYNGAP1 Foundation?
There are a variety of ways people can help the organization in addition to donations. There are many opportunities to host fundraisers. Help is always needed creating educational materials, coordinating webinar content and planning events. Volunteers can also become involved with the Legal Affairs Committee, promoting policies and legislation that will help the SYNGAP1 community. An internship program is also available for university students as part of a master’s class in health policy. Participants research and write grants, support legislative policy, help families locate needed resources and assist with research studies.
Families of patients can participate in the Family Advisory Council, providing invaluable guidance on programs and initiatives. Those with a scientific background can join the Registry Advisory Committee and work with scientists to build the registry. Family fundraisers are another way to help. Additionally, the organization is always looking for families to share their story as part of a video series on living with SYNGAP1.
7. Where can patients get the most up-to-date information on new advances in SYNGAP1?
New research and developments are continually posted on all of the organization’s social media outlets, as well as in monthly newsletters available on the SYNGAP1 Foundation website.
8. What closing thoughts should readers remember?
It is important for people to realize that just because SYNGAP1 is rare, that does not mean it is not important. The SYNGAP1 gene is most likely connected to many different neurological disorders, so supporting the effort to find new advances for SYNGAP1 patients may also help many others suffering from disabling conditions. Given the progress made in just a few short years, there is much hope for SYNGAP1 patients and others touched by the SYNGAP gene.