Mission

When our son Paxton turned one year old, he failed to meet most of his developmental milestones and was referred for Early Intervention Services, as he was suspected of being on the Autism Spectrum. He underwent DNA testing for gene mutations that contribute to autism and intellectual disabilities but no genes were found to be causing his challenges. When he was five years old, he began having seizures, was diagnosed with epilepsy and underwent further DNA testing to see if the epilepsy was caused by a gene mutation. Again, no gene was found to be causing his challenges. 

Despite many different medications, his seizures persisted every night and testing was ordered to have his whole exome sequenced. It was during this testing that a mutation was discovered on his CLCN6 gene that is causing severe epilepsy, autism, severe developmental delay, poor motor coordination and hypotonia. 

We were told by the genetic team that mutations on this gene were not discovered until 6-7 years ago and that whole exome sequencing testing is not widely offered to patients. The available literature shows that this mutation causes neurodegeneration and that our son may regress. We were told that there is nothing that can be done and the genetic team would follow up with us in two years. 

Overcome with grief and sorrow, we researched as much as we could on this mutation. Through our research and conversations with people with backgrounds in microbiology, we learned that while nothing can be done today, hope and potential treatments are on the horizon through the power of gene therapy. 

In April of 2024, we discovered that scientists at the University of Massachusetts, Worcester, through the Chan Medical School, Horae Gene Therapy Center, work with families and individuals that have rare and ultra rare diseases. These researchers offer hope and potential treatments, and possible cures for families and individuals with rare diseases that are not heavily researched or funded for clinical trials due to a low population in need. 

We and many families like ours, now have an opportunity to develop gene therapies for our children and loved ones. But this opportunity comes at a major price. 

To develop, test and administer the gene therapy and clinical trial, we are going to have to pay $1.5 million. While this offers a ray of hope through the clouds of despair, it also creates additional stress and a herculean challenge to raise the funds needed to help Paxton.

We have created this organization to raise awareness of mutations on the CLCN6 gene and how it severely impacts Paxton.  We cannot complete this journey on our own and we ask you to please join us and help us to raise $1.5 million to develop and deliver a life saving and life changing gene therapy for our son. 

The cell and gene therapy field is still in its infancy, and the potential it holds for individuals with rare diseases and their families is unlimited. The technology to edit DNA or RNA to provide a treatment and even a permanent cure exists and has been successfully carried out on select individuals in clinical settings. But much work is still to be done before it is widely available and affordable for everyone. We believe that humanity can come together and provide a cure for mankind's greatest medical challenges. Progress and advancement in one area raises the tides of research in all areas.