Newly Diagnosed
Recently Diagnosed? Start here.
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.
Our Voices
SPATA Stories
You’re not alone in this journey. On our Family Stories page, you’ll find real experiences shared by SPATA families who have been where you are now.These stories offer comfort, honesty, and perspective—especially for those who are newly diagnosed—by showing the challenges, the strength, and the hope that exist within our community.We invite you to read, connect, and see yourself reflected in the stories of other families walking this path.
Understanding Genetics
Genetics: Our Body's Cookbook
Genetics can feel confusing and overwhelming, so we’re using a simple cookbook analogy to make it easier to understand. Just like a cookbook holds recipes that tell you how to make something, our genes hold instructions that tell our bodies how to grow and function. When a recipe has an error, the outcome can change—just like a genetic change can impact development and health.
A genetic variant is like a typo or change in the recipe. Sometimes the typo doesn’t matter. But sometimes it changes the recipe so much that the dish doesn’t turn out correctly—or can’t be made at all.
GENETIC MUTATIONS
Can happen de novo (randomly, not inherited) or are inherited.
How are these Genes Passed Down?
SPATA5 and SPATA5L1 Disorders are Autosomal recessive. Autosomal recessive means a child must inherit two mutated copies of a gene (one from each parent) to have the condition. Parents are usually carriers without symptoms, and when both are carriers, each pregnancy has a 25% chance of being affected.
Want to Learn More?
Check out our Resource Library below where we've gathered some simple videos to help you better understand genetics and DNA.
Resources for
SPATA5 & SPATA5L1
Related Genetic Disorders
Our Resource Library is a great place to start. We’ve gathered helpful materials on SPATA disorders, along with broader rare disease resources, to support families at every stage of the journey. Whether you’re newly diagnosed or looking to learn more, we encourage you to explore and use these tools to help you feel informed, empowered, and connected.
Join our Family Community
A Place for SPATA Families to Connect
Have a child that was diagnosed with SPATA5 or SPATA5L1 Disorder?
​
You are not alone.
​
Join our global community of families who understand exactly what you're going through. Together, we can connect, share experiences, and support one another through every stage of this journey.
​
By joining our network, you'll also help strengthen awareness and research efforts - bringing us closer to better answers, better care, and a brighter future for all SPATA families.