About Us

Who We Are

Since 2024

Families Helping Families

Our History

We received our daughter’s diagnosis just before she turned two. As soon as we left the hospital, my husband wanted to find a cure but we felt overwhelmed. We couldn’t find any information about the condition or find others families with TFE3. Eventually we did, and it was a joy to meet others worldwide that knew what we were dealing with. Still there were relatively few cases, that were widely scattered and little information was available. With day to day life, raising siblings and managing and advocating for our children we haven’t found a cure yet. We have started a registry which is the first step. And today we hope to bring families together and work to build a knowledge base for more effective therapy and treatment.

TFE3-associated neurodevelopmental disorder – what is it?

TFE3-associated neurodevelopmental disorder (or just TFE3), is a very rare mutation of the X-chromosome linked “transcription factor for immunoglobulin heavy-chain enhancer 3” (TFE3) gene. How rare? There are currently around 50 known cases worldwide, with a few more being identified every year.

Sometimes misdiagnosed as a lysosomal storage disorder, it can be properly identified through genetic testing. Visibly, TFE3 presents as intellectual disability, facial dysmorphism, pigmentary mosaicism (varied patterns of pigmentation in the skin), and seizures, among other things. Currently, treatment is limited to alleviation of symptoms. Physical, occupational, and speech therapy can help improve mobility, speech, dexterity, etc.

There are promising advances being made in gene therapy for rare diseases. Clinical trials are ongoing but more data is always needed. Please see the Get Involved page to learn how you can help.

What Drives Us

Our Mission

To help families with a new diagnosis, collaborate with researchers to further research and work towards a cure, develop best practices for managing symptoms and share those resources and information about TFE3 with the community.