OUR STORY
Violet Kimberlee Pimentel was born on November 22, 2021, weighing 6 lbs 13 oz after a healthy pregnancy and uncomplicated delivery. After passing all her newborn screens in the hospital, she came home 24 hours later. In the months following, we raised our concerns with doctor after doctor about her feeding difficulties, developmental delays, and lethargy. After months of being dismissed, pursuing second opinions, and being told that she would probably be fine with a little physical therapy, Violet was finally admitted to UCSF and diagnosed with a life-threatening genetic disorder called Pyruvate Dehydrogenase Complex Deficiency. Violet’s mutation is spontaneous, meaning not inherited from her father or mother.
After learning of Violet’s devastating diagnosis, we wasted no time meeting with several of the top metabolic geneticists in the country. One by one, we asked them what the future of treatment would look like for this disease and one by one, they answered, gene therapy. To our great frustration, when we pushed further and asked who was working on gene therapy for PDHA1 mutations, they all replied, no one. We then spent every single day researching and talking to other rare disease parents. This is how we learned of Dr. Steven Gray’s lab at UTSW and their tremendous track record at creating gene therapy cures for rare diseases and getting them to the clinic. Thus, the Hope for PDCD foundation was born.
This is the beginning of a long fight and every obstacle will be thrown in our way. We can not do this alone, we hope you will cheer us on in the way that is right for you.
Violet now has a feeding tube and spends every day in doctors appointments, as well as physical, occupational, vision and feeding therapies. She is on a highly monitored ketogenic diet, the only treatment option to slow the progression of her disease, as well as an extensive routine of medications and supplements. She is a sweet, happy baby who loves music, reading books, her family members and sharing her signature gummy smile with everyone she meets. Violet, along with all her PDCD brothers and sisters, deserves every chance at a happy childhood and a full life.
THANK YOU
Even though we are at the very beginning of this journey, we could not have launched the Hope for PDCD Foundation or come this far, this fast without the guidance and encouragement of a few people. Thank you to Terry Pirovolakis of Cure SPG50, Matt Wilsey of Grace Science, Dr. Greg Enns at Stanford, Effie Parks of Once Upon a Gene Podcast, Hannah Lowe of L-CMD Foundation, Saneth Kumar Ramesh of Open Treatments and Brittany Stineman of Smash SMARD. Most importantly, thank you to all the fierce PDCD parents that came before us.