Why Getting a Genetic Diagnosis Matters, Especially for SYNGAP1

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by Corey Baysden, Syngap mom

Dear Parents and Caregivers,

If your child or family member is living with epilepsy or multiple developmental delays, you may be eligible for free genetic testing. This testing is becoming increasingly important as our understanding of the human genome continues to evolve. It has the potential to provide critical information about a person’s risk for inherited conditions, aid in the diagnosis of medical conditions, and inform treatment decisions.

Not only can genetic testing offer valuable insights into your child’s health, it can also connect you with a community of people who understand your journey. Here are some of the benefits of finding a rare disease community:

  1. Emotional Support: Being a part of a community can offer a sense of belonging and provide emotional support. You can share your experiences and feelings with others who truly understand what you’re going through.
  2. Information Sharing: Rare disease communities often have a wealth of information and resources about the condition. Members can share information about treatments, clinical trials, and other resources that may be helpful.
  3. Advocacy: By coming together as a community, people with rare diseases can raise awareness and advocate for more research and better treatments.
  4. Connection with Medical Professionals: Rare disease communities often connect with medical professionals who specialize in treating the condition. This can be particularly beneficial for those who may not have access to specialists in their local area.
  5. Family Support: Rare disease communities can also provide support for the family members and caregivers of those with the condition. They can share information, resources, and strategies for coping with the challenges of caring for a loved one with a rare disease.
  6. Research Participation: If you’re interested in participating in research studies or clinical trials, a genetic test result-based diagnosis is often a prerequisite.

In conclusion, genetic testing can provide important information for families affected by epilepsy or developmental delays. It can help inform treatment decisions, connect you with a supportive community, and even provide opportunities for research participation. We encourage you to explore the possibility of genetic testing for your family.

There are multiple examples on our website of cases where this diagnosis has been positive and life changing for the family.

  1. Tony:  VIDEO – Led to creation of SRF
  2. Kai: VIDEO – Led to community and hope
  3. Andrew: Jo’s BLOG.
  4. Jansen: Jansen’s story on Variantyx & VIDEO
  5. Matt: Ellen’s story
  6. Caren: VIDEO

To get free genetic testing, see this blog for three SRF partners who may be able to help.