Hope for Harlow - Clays for a Cure

In June of 2021 we welcomed our 2nd daughter Harlow Millie into the world. The first 9 months of Harlow’s life were spent in and out doctor’s offices searching for a diagnosis. On 3/31/22 we discovered that Harlow has a spontaneous mutation on the PDHA1 gene which causes a rare metabolic mitochondrial disorder called Pyruvate Dehydrogenase Complex Deficiency (PDCD). We were told there was no cure for this disease and life expectancy can range from early childhood to adolescence were sent home with information on a metabolic team to coordinate a medical ketogenic diet as well as a clinical trial for a drug that potentially help slow progression and stimulate energy. Kids with PDCD cannot metabolize carbohydrates and their disorder can cause a dangerous buildup of lactic acid in their organs and robs their cells of the energy needed to function. We got Harlow into the clinical trial and started her on a strict keto diet within a couple months but neither of these treatments are a cure for this horrible disease.

In late 2022, we connected with the parents of another recently diagnosed little girl who refused to accept "no cure" for an answer and they had begun meeting with several of the top metabolic geneticists in the country who told them the future of treatment for PDCD is in gene therapy. The PDHA1 gene was even identified as a good candidate for gene therapy almost 15 years ago but because this disease (and many others) is so rare, it’s not “profitable” to cure therefore leaving it up to these rare disease families to solely fund any research for a cure. This is where the Hope for PDCD Foundation was born.

The Foundation has partnered with the University of Texas Southwestern to initiate gene therapy research for the PDHA1 gene. Over the past two years, with the help of many families and fierce advocates, the Hope for PDCD Foundation has raised almost $1M and fully funded Stage 1 of research ($500K) and our proof of concept mice model study is well underway at the Gray Lab at UTSW in addition to launching our Stage 2 campaign called “Change the World for PDCD.” Donations for Stage 2 will go toward comprehensive efforts to establish high quality translational research for PDCD, including but not limited to: manufacturing a toxicology AAV batch and conducting GLP safety studies (UTSW), an N of 1 Prospective Study for Newborn Screening, developing a new PDC Activity Assay (CHOP), and a Standards of Care Research and Family Symposium.

For more info on Hope for PDCD (501(c)3) please visit www.HopeforPDCD.org or for more info on Harlow's Journey visit www.facebook.com/TeamHarlowHigbee