Gaucher Disease

Inborn Error of Lysosomal Metabolism

Gaucher (“Gow-shay”) disease is an inherited condition caused by a faulty gene. In Gaucher disease, an enzyme the body needs to break down a certain type of fat is missing or not working properly. As a result, the fat builds up in the bone marrow, lungs, liver, and sometimes the brain. Symptoms of Gaucher disease may include pain, bruising, bleeding, seizures, easily broken bones, an enlarged liver, and cardiovascular concerns. The disease can be treated by giving an infusion that replaces the missing enzyme. It is now becoming possible to diagnose Gaucher disease in newborns.

Jerry Vockley, MD, PhD

Chief of Medical Genetics

Dr. Vockley is an international leader in treatment and research in medical genetics and the field of inborn errors of metabolism. He is also a founder of the North American Metabolic Academy.

What to Expect

At the Center for Rare Disease Therapy, we have the knowledge and expertise to treat patients of all ages with Gaucher disease. If your child has been diagnosed with Gaucher disease, we want you to know that you are not alone – we are here to help. Here’s what you can expect when you come to us for a consultation.

How quickly can we get an appointment?

At the Center for Rare Disease Therapy, a doctor specializing in genetic diseases can usually see a new patient within 1 to 2 weeks. To make an appointment, please call Jodie M. Vento, MGC, LCGC at 412-692-7273 or send an email to rarecare@chp.edu.

How long should we expect our first visit with the doctor to take?

You can expect your first visit to take from 4 to 6 hours. Your child will receive a complete evaluation and may be seen by several other doctors and other health care professionals.

What will happen during our first visit?

Your child will receive a complete evaluation to establish or confirm a precise diagnosis and determine how much the disease has affected the child. Because we work as a team here at the Center for Rare Disease Therapy, during your visit your child may be seen by several doctors and other health care professionals. These other health care professionals may include a neurologist, a heart specialist, a surgeon, a nutritionist, a genetic counselor, a psychologist, and a specialist in child development.

We understand that the whole family is affected when a child has a rare disease. We also know that you, the family, know your child better than anyone else. We see each family as our partner in caring for their child. We think the best approach to caring for a child with a rare disease emerges when we combine our depth of experience in rare diseases with your expertise in what’s best for your child.

We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. If surgery is an option for your child, we will help you understand what the surgery entails and what you may need to do to prepare for it. We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. Please feel free to ask our specialists any questions you have about your child’s disease, treating and caring for your child, or anything else that is on your mind.

By the end of your visit, you will have a care plan tailored to your child’s needs and an appointment for a follow-up visit.

How long might we have to wait for test results?

Depending upon the types of tests that the doctors order, you can expect to receive a phone call within 2 weeks to explain test results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians.

Meet Our Patients

Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh.

View patient stories>>

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 UPMC Children’s Hospital of Pittsburgh for a child diagnosed with Gaucher disease, please contact:
 
Jodie Vento, MGC, LCGC
Phone: 412-692-7273
Email: rarecare@chp.edu