Children's Hospital is part of the UPMC family.
Be safe anytime, anywhere.
To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
A resource for our network of referring physicians.
For more information about research, please call our main office at 412-692-6438.
Ranked #8 Nationally by U.S. News & World Report.
Krabbe disease ("crab-A") is also known globoid cell leukodystrophy.
Krabbe disease is an inherited disorder, which means parents pass the gene for the disease to a child. Because it's an inherited condition, couples may have more than one child with this disease.
This is a rare condition. While older children may get this disease, it usually affects babies under six months old.
There are two types of Krabbe disease:
The effects of this disease can be severe, leading to death.
In Krabbe, the body can't make an enzyme called galactosylceramidase. This leads to a loss of myelin, which protects the body's nerves, and causes nerve damage.
This nerve damage keeps the brain from sending signals to the body, which leads to the symptoms of Krabbe disease.
The symptoms of infantile Krabbe disease normally occur by the time a baby is six months old.
Some of the first symptoms of this disease include:
As the disease progresses, other symptoms may include:
In late-onset Krabbe Disease, symptoms may include:
In some states, but not all, doctors routinely test newborns for Krabbe disease.
At your child's appointment, the doctor will examine your child. If he or she suspects Krabbe, your baby will need to have a blood test and an MRI..
It's vital for treatment that doctors diagnose the disease as soon as possible.
Right now, there is no cure for Krabbe disease. Children with this disease benefit from supportive therapy, and closely following the progression of their disease.
An umbilical cord blood transplant has extended many children’s lives. Transplant isn't right for all kids, but your child's doctor may discuss this option with you.
Learn more about transplant at the Division of Blood and Marrow Transplantation (BMT) and Cellular Therapies.
Maria Escolar, MD
Director, Program for the Study of Neurodevelopment in Rare Disorders
An NIH-funded researcher, Dr. Escolar is internationally known for her work in mucopolysaccharidosis, leukodystrophies, and other white matter brain diseases. Her program designed the first neuroimaging tool that predicts the progression of leukodystrophies.
If a doctor diagnosed your child with Krabbe disease, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.
To make an appointment for your child or refer a patient for Krabbe disease care, contact us by:
Here’s what you can expect when you come to us for your child's first consult.
You can expect your first visit to take from 4 hours to several days.
Your child will receive a complete assessment from Maria Escolar, MD, director, Program for the Study of Neurodevelopment in Rare Disorders.
Dr. Escolar will make or confirm a precise diagnosis and find out how much the disease has progressed.
Because we work as a team here at the center, other doctors and staff might see your child during your visit.
These may include specialists in:
Members of your child's Krabbe disease care team will talk with you about:
If surgery might be a good option, we'll discuss the details. We'll let you know how you and your child can prepare for surgery.
By the end of your visit, you will have a care plan tailored to your child’s needs. We'll also schedule a follow-up visit in 3 months.
You'll meet our nurse practitioner (NP). You can contact our NP by phone or video conference with any concerns you have between now and your next appointment.
Before you leave, please feel free to ask us about your child's Krabbe disease diagnosis, treatment, or anything else on your mind.
You can expect to meet with Dr. Escolar to review results and explain next steps during your visit.
You can also find your child's test results if you signed up for myCHP — Children's patient portal.
myCHP lets you manage your child's health online. It's free to patients, parents, and guardians of Children's Hospital of Pittsburgh of UPMC.
When a child has a rare disease like Krabbe, it affects the whole family.
At the Center for Rare Disease Therapy, we see each family member as our partners.
The best care approach happens when we merge our Krabbe disease expertise with your knowledge of what’s best for your child.
Contact us to make an appointment or learn more about your child's Krabbe disease:
At age 4½ months, Lily was diagnosed with Krabbe disease. A transplant of umbilical cord blood at Children’s Hospital halted the progression of this devastating disease.
Learn More »
DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment
The Natural History of Infantile Globoid Cell Leukodystrophy
Longitudinal Investigation of Neurodegenerative Disorders in Children
Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
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? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.