What Is Gaucher Disease?

Inborn Error of Lysosomal Metabolism

Gaucher (“Gow-shay”) disease is an inherited condition caused by a faulty gene. 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.
Heart and vascular concerns.

Treatment is an infusion that replaces the missing enzyme.

It’s now becoming possible to diagnose Gaucher disease in newborns.

Jerry Vockley, MD, PhD

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.

Your Child's Gaucher Disease Consult and Care: What to Expect

If a doctor diagnosed your child with Gaucher 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 first Gaucher disease consult.

What should I expect at my child's first visit for Gaucher disease?

Your first visit will take from 4 to 6 hours. Your child will receive a complete assessment from one of the center's doctors.

The doctor will make or confirm a Gaucher disease diagnosis and find out how much the disease 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:

Brain, spine, and nervous system doctor.
Heart specialist.
Surgeon.
Nutritionist.
Genetic counselor.
Psychologist.
Child development specialist.

What are the next steps after my child's Gaucher disease visit to the Center for Rare Disease Therapy?

Members of your child's care team will talk with you about:

Likely next steps for your child.
Gaucher disease treatment options.
Ways to help your child's quality of life at home.

By the end of your visit, you'll have a Gaucher 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 Gaucher disease, treatment, or anything else on your mind.

How long will I need to wait for my child's Gaucher disease test results?

We'll call within 2 weeks to review the test results and the next steps for your child's Gaucher 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 treatment at UPMC Children's Hospital of Pittsburgh and their loved ones.

Partners in Your Child's Gaucher Disease Care

A child with a rare disease like Gaucher disease affects the whole family. We see each family member as our partner at the CRDT.

Great care happens when we merge our Gaucher disease expertise with your knowledge of your child's needs.

Meet Our Rare Disease Center Patients

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 »

Contact Us About Your Child’s Gaucher Disease

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:

Phone at 412-692-7273.
Email at rarecare@chp.edu.
Fill out our rare disease contact form.

We’ll be in touch within 2 business days.