TFE3 foundation

Dear reader, YOU ARE NOT ALONE.

Three years ago, our world was changed forever. Our youngest daughter was diagnosed with a rare genetic abnormality called TFE3. Though our two year old (at that time) had had some developmental delays and numerous symptoms we never understood, we were heartbroken to hear of the grim outlook of her diagnosis. Among other things, the geneticists conveyed to us that our little girl may never walk or speak – a commonality among the small pool of identified cases.

Our little Halcyon has a beautifully unabashed smile and an infectious laughter. With a look of awe in her big blue eyes, she often reaches out to cup your cheek as she gazes into your eyes. Like any parent, we want the very best for her and want to leave no stone unturned in making a great life for her.

We’ve already connected with several parents with children that have the same diagnosis with varying degrees of severity, and have leaned on our families and friends for support. As the 18th identified case (at that time – we are now 30 strong), we reached out to our communities for support and now we look to mitigate symptoms and eventually find a cure. As parents, we will never give up hope.

If you have a child or family member with TFE3 disorder, please feel free to share here. Consider this a safe place for us to connect, share, learn, and collaborate.

Again, you are not alone. As a community, we are stronger and can offer one another the resources that make a difference for our children. We look forward to hearing from you.

Sincerely, Marc