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 30 known cases worldwide, with a few more being identified every year.
Sometimes misdiagnosed as lysosomal storage disorders, it can be properly identified through genetic testing. Visibly, TFE3 presents primarily as intellectual disability, facial dysmorphism, pigmentary mosaicism (varied patterns of pigmentation in the skin), and seizures. Currently, treatment is limited to alleviation of symptoms and physical, occupational, and speech therapy to improve mobility, speech, etc, although there are some promising advances being made in gene therapy. Clinical trials are ongoing – more data is always needed.
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 are working to build such a registry. Key to gaining interest from researchers and beyond is seeing how many people are affected by the condition. That’s why we need you!
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.
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VOLUNTEER
Team
Our Volunteers
Rainbow Geffner Solomon
Co Founder
Marc Solomon
Co Founder
Mabel Solomon
Student Intern
Scott Benjamin
Web Volunteer