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Newly Diagnosed
You're in the Right Place
We know you're confused and scared. You've probably been searching the internet for answers but can only find a few scientific articles. That's what we're here for.
We’re here to answer the questions we can and provide resources to help you navigate this diagnosis, because we've been in your shoes.
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On this page you'll find resources for navigating the world of having a child with a rare disease, important steps you can take to help The SPATA Foundation advance research, and ways to connect with other SPATA5 and SPATA5L1 families.​
What Now?
Navigating the Diagnosis
You got your diagnosis. Now what?
There is Hope
The SPATA Foundation is here not only to support families living with SPATA5 and SPATA5L1 disorders, but to actively lead the way toward real treatments and better lives for those affected.
We’re building a future that didn’t exist before—connecting families, partnering with top researchers, driving innovative science, and pushing for the breakthroughs our children deserve. Every step we take is focused on transforming diagnosis into action and uncertainty into hope.
Through advocacy, collaboration, and a relentless commitment to progress, the SPATA Foundation is charting the path forward.
Understand the Diagnosis
SPATA5 and SPATA5L1 are separate genes with a common ancestry and similar structure and function. Think of them like cousins. They are sometimes referred to as AFG2A(SPATA5) and AFG2B(SPATA5L1).
Not much is currently known about the genes, but research is advancing and they are starting to better understand the genes. You can find more in-depth information on the genes and the disorders on the About Page.​
Additional research is needed to better understand the exact function of SPATA5 and SPATA5L1 in the body.Because these genes are so closely related, disorders related to SPATA5 and SPATA5L1 result in strikingly similar characteristics.​
Genetics can be confusing! Learn more about the disorders and genetics on our About Page!
Join The SPATA Foundation Family Network
The SPATA Foundation Family Network Registry is intended for primary caregivers of individuals with SPATA5 and SPATA5L1 Disorder (AFG2A and AFG2B Disorder).
The Family Network Registry is intended to be used as an internal database of SPATA5 and SPATA5L1 families as well as a way for families to receive updates about research, medical discoveries, and other announcements.
Completion of this form also allows for families to tell their story and be features on the SPATA Foundation website and in marketing initiatives.
To join the Family Network Registry please click JOIN NOW below where you can learn more and join.
Connect with Families on Facebook
There are a few Facebook groups you can join that are great resources. These groups have families from all over the world who are affected by SPATA5 and SPATA5L1.
SPATA Foundation Family Network
This is a joint group ran by The SPATA Foundation that is designated for both SPATA5 and SPATA5L1 families.
SPATA5 (AFG2A) Parents Group
This is a support and chat group ran by a SPATA5 family in the UK for families who have been given the diagnosis of SPATA5(AFG2A), though SPATA5L1 families can join as well. Please note: This group is NOT associated with The SPATA Foundation
SPATA5L1(AFG2B) Genetic Disorder Group
This is a group ran by a SPATA5L1 family for families who have been given the diagnosis of SPATA5L1 (AFG2B), though SPATA5L1 families can join as well. Please note: This group is NOT associated with The SPATA Foundation
Enroll in the Patient Research Registry
The Patient Registry is separate from the Family Network Registry. While the Family Network Registry is designated to gather general information for internal purposes, the Patient Registry is an official registry to gather medical data for research purposes.
The Patient Registry is a database that collects standardized information about a group of patients who share a condition. This will allow us to collect important data about how SPATA5 and SPATA5L1 affects our children.
Collecting this information via the Registry means the data will be in a central place, allowing researchers to access it to compare symptoms, imaging, treatments, and more.
We highly encourage all families to participate.
Find a SPATA Family Near You
Coming Soon
Explore the Latest Research
The SPATA Foundation is here not only to support families living with SPATA5 and SPATA5L1 disorders, but to actively lead the way toward real treatments and better lives for those affected.
We’re building a future that didn’t exist before—connecting families, partnering with top researchers, driving innovative science, and pushing for the breakthroughs our children deserve. Every step we take is focused on transforming diagnosis into action and uncertainty into hope.
Through advocacy, collaboration, and a relentless commitment to progress, the SPATA Foundation is charting the path forward.
Get Involved - Help Advance our Mission
If your family has recently received a SPATA5 or SPATA5L1 diagnosis, you may be wondering how you can help—especially while still processing everything. One of the most powerful ways to advance our mission is simply by staying connected.
Families can support The SPATA Foundation by joining our community, sharing their child’s story (when they feel ready), participating in research opportunities, and helping spread awareness so more families can find answers sooner.
Whether you choose to fundraise, volunteer, or advocate alongside us, every voice and every effort helps push research forward and brings hope to families around the world. You are not alone—and together, we are building a stronger future for our children.
HOPE
UNDERSTAND DIAGNOSIS
FAMILY NETWORK
FACEBOOK
RESEARCH REGISTRY
FIND A FAMILY
LATEST RESEARCH
GET INVOLVED
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