Jack’s Journey with CPTII at UPMC Children’s

Born with CPTII, Jack is thriving thanks to the care he received at UPMC Children’s Hospital of Pittsburgh.

Jack is a kind, smart, determined 8-year-old. He is obsessed with playing soccer in his hometown of Fort Gratiot, MI — something his parents, Allison and Matt, thought he might never be able to do.

Jack was born with a metabolic condition called carnitine palmitoyltransferase II (CPTII) deficiency. CPTII is a fatty acid oxidation disorder (FAOD) in which the person affected cannot convert certain fatty acids into energy to fuel the body. Kids with CPTII are at risk for life-threatening conditions such as heart failure, low blood sugar, or severe respiratory issues.

Life-changing News

According to Allison and Matt, when Jack was about 8 months old, the family got a phone call from the State of Michigan saying that Jack’s newborn screening indicated some concern, and that they should take him to an appointment at the local hospital to discuss the blood test results. Allison says the couple was not overly concerned about it at the time since Jack seemed healthy, except for one hospitalization for RSV when he was 6 weeks old.

At the appointment, Allison and Matt were handed a 29-page packet of papers explaining CPTII, without much additional information from the clinical team. Allison shares that they felt terrified and overwhelmed.

Over the next few months, Jack was in and out of the hospital several times, and during one weeklong inpatient stay, the family reports that they did not hear from Jack’s specialist at all.

Feeling like Jack was not receiving personalized care, his parents’ concern grew. Allison decided to do some online research about CPTII. She came across links to the work of a renowned leader in the field of inborn errors of metabolism and FAODs, Jerry Vockley, MD, PhD, at UPMC Children’s in Pittsburgh.

Finding Hope at UPMC Children’s

Even though they would have to travel six hours from their home in Michigan to see Dr. Vockley for every appointment, the couple felt it was the right thing to do for Jack. Allison said she took a chance late one night and sent an email to Dr. Vockley, to which she received a reply the very next morning.

They were able to set up an appointment for Dr. Vockley to evaluate Jack, and they share, “The appointment went better than we could ever have imagined!”

Dr. Vockley immediately put Jack’s parents at ease. They knew they made the right decision to seek treatment in another state, and Jack eventually became part of Dr. Vockley’s NIH-funded clinical trial of the FDA-approved treatment marketed publicly as Dojolvi®.

The Road to Recovery from CPTII at UPMC Children’s

The family says that being treated at UPMC Children’s, as well as being included in the drug trial, has been absolutely life-changing for Jack, as the frequency of his hospitalizations has dramatically decreased over the years.

“Dr. Vockley has been so amazing, and he truly cares about his patients and their families. He takes time to talk with Jack at every appointment, and I can’t say enough wonderful things about him!” Allison says enthusiastically.

Jack and his family also enjoy working with his genetic counselor and research coordinator, Elizabeth McCracken, MS, CGC. They say Elizabeth is kind, compassionate, and always quick to reply when needed. Allison recalls fondly, “Elizabeth and Dr. Vockley have even taken time to meet up with us at Walk for Children’s for several years. It’s nice for Jack to see his team outside of the hospital and it has helped us to build connections.”

Being a Regular Kid with CPTII

These days, Jack’s parents say he is thriving, and they believe it is only because of the excellent care he has received at UPMC Children’s.

Thanks to the amazing work of Dr. Vockley and the support of philanthropy like yours, Jack is now well enough to play competitive sports and just be a regular kid.

Transforming Lives Together

Jack and Dr. Vockley at Walk for Children'sJack’s family not only praises UPMC Children’s, but they also commit to giving back by fundraising for Walk for Children’s each year. The family’s dedication and support enhance the ability to provide exceptional care to every patient, and to date, they have raised over $7,000.

To donors who contribute funds to UPMC Children’s, the family would like to simply say thank you. Your support is helping patients like Jack, and your contributions are opening the doors to innovative research that might one day lead to a cure for CPTII. Allison says warmly,” I don’t have the words to express just how grateful my family is for your generosity.”

Give today to support more kids like Jack.