This is Tommy, our son. He is eleven years old, and a few years ago, he was diagnosed with a rare genetic disorder: Mucolipidosis type IV (or ML4 for short).

ML4 is a degenerative lysosomal storage disease, which affects every single aspect of a child's development, psychological and motor. It is extremely rare (only a few hundred cases worldwide, while Tommy is only one of five known in France, where we live) and our understanding of its effects, both short and long term, are limited.

The major impacts are neurological and visual. Most of the children who have the disease never walk, never talk, lose their sight in the teen years and have a lowered life expectancy. After a double corneal graft when he was younger, Tommy recently had to have a cataract operation.

Most of the confirmed cases are in the United States, so a foundation was set up in Atlanta by families of the children, devoted to understanding ML4 and funding research into treatment. If you would like to know more about the foundation, you can find their official website here: http://ml4.org/.

This year, UPenn (University of Pennsylvania) is organising a virtual bike race to help the foundation collect funds. You can help! Every dollar donated will be matched by UPenn and sent to the foundation to help fund research (gene therapy, etc.). The goal is to raise $30,000, which thanks to UPenn will become $60,000 towards finding a cure!

Over the last 4 years, the money we have raised has financed a restrospective natural history, helped to define biomarkers and to make huge advances towards gene therapy. The results already achieved have been sufficient to give us a real shot at clinical trials and a possible therapy. But before that, there are more steps that need to be taken, including a major prospective natural history. All of this costs money. If you would like to help fund research for Tommy and other children like him, you can donate here. Any amount is helpful. Remember, even if you only give $5, that will become $10 to help fund research.
Since the UPenn event will be happening on the 11th June 2022, that is the date set for all direct donations in dollars. Thank you all so much for taking the time to read this message! We really hope you will participate even a tiny amount to help Tommy and others!

The Browns