Jaxson was born on December 27, 2012. His first year of life was like any typical child. He met all “normal” milestones until a month after his first birthday. Jaxson caught the flu and little did his family know that their lives would forever change.

The next 10 months came with delayed recovery from the flu, missed milestones, the starting of occupational therapy, speech therapy and physical therapy, a visit to the pediatric ophthalmologist, two brain MRIs that showed lesions on his brain stem, a visit to the metabolic geneticist, genetic testing, a diagnosis of Leigh syndrome with a defect in C12orf65, a trip to Houston to confirm the Leigh syndrome diagnosis, and suddenly his family was on a road that they never planned on traveling with no map, no direction on where to go and only each other to pave the way.

“We come from a family of people who fight for their own. Who do whatever takes to give the next generation a better life than we had,” said Lindsey, Jaxson’s Mom.  “Garret and I knew that we could drown in our sorrows or pick ourselves up and find a way to help our son. We will not give up until a treatment or cure is available for C12orf65.”

What they’ve done to fight Leigh syndrome: 

+ RP103 drug trial with Dr. Fernando Scaglia at Texas Children's Hospital in Houston. Ended in early 2017.

+ Raised and donated $196,376 to Children’s Hospital of Philadelphia to go toward research of C12orf65. Dr. Marni Falk is heading up the research. 

+ Eight trips to Panama City, Panama for (MSC) stem cell treatment (started in April 2017, last visit was January 2020).

+ October 2019 partnered with the Hereditary Neuropathy Foundation to fund a gene therapy project for C12orf65. Have raised $100,000 to date. 

+ Enrolled as a participant in the Leigh syndrome MINI (Metabolism, Infection and Immunity) study at the National Institute of Health in December 2019.

+ See mitochondrial specialists at the Children’s Hospital of Philadelphia (Dr. Marni Falk and Dr. Amy Goldstein),Texas Children’s Houston (Dr. Fernando Scaglia and Dr. Lisa Emrick) and Children’s Dallas (Dr. Kayani). 

Assets/Studies done:

+ Zebrafish models at CHOP 

+ C12ORF65 human cell lines

+ AAV9 research grade 

+ HTS in Zebrafish

+ Natural history study (MINI) underway at NIH (informal study at CHOP)

Click here to learn more about Jaxson.