Jack Ruiz – Carnitine Palmitoyltransferase II Deficiency (CPTII)

Jack Ruiz

Jack was born with a metabolic condition called carnitine palmitoyltransferase II (CPTII) deficiency. CPTII is a fatty acid oxidation disorder in which the person affected cannot convert certain fatty acids into energy to fuel the body. Thanks to the amazing work of Dr. Vockley and the excellent care he has received at UPMC Children’s, Jack is thriving.

Read more about Jack's journey with CPTII at UPMC Children's

Contact Us

At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.

For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with a rare disease, please contact:

Jodie Vento, MGC, LCGC
Phone: +1-412-692-RARE or 412-692-7273
Email: RareCare@chp.edu