Love To Emma- To Cure Batten Disease

In spring of 2021, our world shifted when we learned that our beloved Emma, our tender 3 and 1/2 years old, had been diagnosed with the rare and formidable CLN2 Batten Disease. This marked the genesis of our unwavering mission — a quest for hope, a race against time in pursuit of a cure, but not just for Emma... for every child facing this awful disease.

CLN2 Batten Disease, a rare genetic disorder, exacts its toll on motor skills, speech development, and cognitive abilities as it attacks the nervous system. The harrowing prognosis includes the gradual loss of acquired skills, worsening intellectual disability, and behavioral challenges. Eventually, it will take our daughters life with a life expectancy of 6-12 years old.

Emma, our brave little soul, now undergoes an enzyme replacement therapy named Brinuera. Every fortnight, our journey leads us to Children's Hospital in Dallas, where Emma receives a prolonged infusion through a surgically placed port into her brain. This intricate process aims to replenish the deficient enzyme, tpp1, an elixir that her fragile body cannot produce. It's not a cure, but rather a valiant effort to stall the march of battens, to extend the reprieve from its relentless grip...

With gratitude, we acknowledge the swift diagnosis and Emma's initiation into this therapeutic program, but the reality remains stark — this is not a cure-all. As we navigate this labyrinth, we find solace in our pursuit of a cure, a beacon of hope radiating from gene therapy. In 2023, the promise of gene therapy emerged, a potential lifeline for our CLN2 children. However, the financial hurdles faced by the biotech company, RegenxBio, cast a shadow over this beacon. A clinical trial, showing promising results, encountered an unsettling postponement, leaving us grappling with the uncertainty of Emma's access to this groundbreaking therapy, and forcing us back to square one with this cruel disease and the depair of the uncertainty of her future..

The race persists, a relentless sprint against time. We focus on hope and continually pray for a miracle for our children. A miracle where we can raise enough funds to help families access the RGX-181 gene therapy...

We are so very far away from our goal and have much work to do, but we do not believe in impossible. If you would like to help, please consider making a contribution. We are in a desperate plea to erase the uncertainty of Emma's future, as well as provide this hope to other families with CLN2. Thank you.