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Pompe (“Pom-pay”) disease, also known as glycogen storage disease type II, is an inherited condition caused by a faulty gene.
In Pompe disease, an enzyme that helps the body use glucose for energy is missing or not working properly. As a result, glycogen – the stored form of glucose – builds up in organs and tissues.
Symptoms of classic, infantile-onset Pompe disease may include:
Symptoms of late-onset Pompe disease may include:
An infusion that replaces the missing enzyme is how to treat Pompe disease.
Chief of Genetic and Genomic Medicine
Dr. Vockley is a global leader in inborn errors of metabolism treatment and research. He’s also a founder of the North American Metabolic Academy.
If doctors diagnosed your child with Pompe disease, we want you to know you're not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh is here to help.
Here’s what you can expect when you come to us for your child’s care.
Your first visit to the CRDT will take from 4 to 6 hours. Your child will receive a complete assessment from one of our doctors.
They’ll make or confirm a Pompe disease diagnosis and find out how much it has progressed.
Because we work as a team at the center, other doctors and staff might see your child during your visit.
These may include a:
Members of your child's care team will talk with you about:
By the end of your visit, you'll have a Pompe disease care plan tailored to your child's needs. We'll also schedule a follow-up visit.
You'll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit.
Before you leave, please ask us about your child's Pompe disease, treatment, or anything else.
We'll call within 2 weeks to discuss the test results and the next steps for your child's Pompe disease care.
You can also find your child's test results if you have a MyCHP account — Children's patient portal.
MyCHP lets you manage your child's health online.
It's free for kids getting care at UPMC Children's Hospital of Pittsburgh and their loved ones.
A child with a rare disease like Pompe disease affects the whole family. We see you and your loved ones as our partner at the CRDT.
The best care happens when we merge our Pompe disease expertise with your knowledge of your child's needs.
Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.
View Center for Rare Disease Therapy patient stories »
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.