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 40 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. The TFE3 Foundation, has built a registry where that data can be collected. Click the Register link below to learn more.

The first step to helping our kids, is to build a secure registry where researchers and doctors can look at and analyze data and information about TFE3, as it presents itself in real people. Through the generosity of Castor, we have established a TFE3 registry. A prototype is being launched in the US, with a goal to extend abroad in the future. If you would like to participate, there is a call scheduled on June 1 at 4PM EST to find out more.

We need you! Key to gaining interest from researchers and beyond is enrolling as many families affected by TFE3 as possible. Click the register link below for more information.

About Community-Driven Registries

Register

Help Research – Join the TFE3 Medical Registry

What Drives Us

Our Mission

To help family and friends with a new diagnosis, further research to work towards a cure, share resources and develop best practices for managing symptoms, and be a resource for information about TFE3.