Newly Diagnosed
Next Steps after Diagnosis
A message from Director of Family and
Donor Experience Lauren Williams, Carter’s Mom:
Receiving a new diagnosis can be scary and overwhelming. I remember when my son, Carter, was diagnosed in 2017. I wasn’t sure where to turn or what to do. I want you to know you are not alone.
We are here for you. I encourage you to accept the diagnosis with optimism. This diagnosis may be rare, but HOPE should not be.
Listed below are some important “first steps” to take when you are ready. If you need any support on this new journey, please don’t hesitate to contact me at lauren@curegrin.org.
New family orientation
Meet our CureGRIN team by scheduling a New Family Orientation.
Learn more about CureGRIN and opportunities for your family.
Step 1
• Complete the GRI Census (and newsletter)
The global GRI Census collects data from families to advance our search for treatments and cures for GRI Disorders.
The Census is open to parents and caregivers of an individual with a confirmed diagnosis of a GRI Disorder (GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIN3A, GRIA1, GRIA2, GRIA3, GRIA4, GRIK2, GRIK5, GRID1, GRID2).
The global GRI Census is designed to help increase our community’s chances for clinical trials and drug development. Information from the Census is helpful for biotechnology and pharmaceutical companies as they consider adding GRI Disorders to their pipeline.
A huge barrier to learning more about GRI Disorders is the challenge of finding enough people eligible to participate in research studies. The more people with a GRI Disorder we can find, the more powerful the results!
Step 2
• Register for a GRI Community chat.
At our monthly GRI Community Chat, you’ll find a safe space to connect with people who understand what you’re going through.
Our virtual gatherings are relaxed spaces for community members to get to know each other and share resources.
Step 3
• Complete the GRI Registry
Fill out the Registry.
Registries are the best way to learn about people with GRI disorders.
The goal is to understand why people with different GRI variants have different symptoms and how these symptoms change over time.
Enrolling in the Global Registry is the only portal for getting functional analysis for your child‘s variant. Functional analysis can help understand how your variant affects disease severity and potential best treatments.
Enrolling depends on your location and which GRI gene is involved. The registries are globally established to collect data on all GRI variants and to share data with each other. Dr. Bayat’s registry primarily collects clinical data from people with GRIA variants.
North America, South America, and Australia
University of Colorado, Drs. Kristen Park and Tim Benke, this study is approved by COMIRB (16-1520). In order to enroll, contact the study coordinator: GRINresearch@cuanschutz.edu
Click here for Study Information. Enroll online here.
For Dr Bayat’s GRIA registry, contact him at abaya@filadelfia.dk.
Step 4
• Reach out to your family ambassador
Contact the Family Ambassador in your area for information about local doctors, services, events, and making contact with other local parents of children with a GRI disorder. If you don’t see an ambassador for your state or country, contact Brittany Schrock at brittany@curegrin.org.
Step 5
• Join CureGRIN Family Connection
Visit the Join CureGRIN Family Connection group and join us to learn and network with GRI families of every gene around the world!
Step 7
• Take our “Get to know GRI in 10 Days” email course.
Sign up for our 10 Day Email Course designed for GRI Families. This course offers a basic exploration of key questions surrounding GRI Disorders research, as well as short quizzes to test your knowledge as you progress.
