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.
Children's Hospital is ranked One of America's Best Children's Hospitals.
Krabbe (pronounced “crab A”) disease is an inherited condition caused by a faulty gene. Children with Krabbe disease lack an enzyme called GALC that the body needs to make myelin, a substance that insulates nerve fibers to protect them from damage. Without myelin, nerves throughout the body don’t function as they should. Symptoms often begin to appear when a child is about 3 to 6 months old. Children with Krabbe disease may cry a lot, feed poorly, and have fevers, stiff limbs, and other symptoms. The medical name for Krabbe disease is globoid cell leukodystrophy.
Director, Program for the Study of Neurodevelopment in Rare Disorders
An NIH-funded investigator, Dr. Escolar is internationally known for her work in mucopolysaccharidosis, leukodystrophies, and other white matter diseases of the brain. Her program developed the first neuroimaging tool that predicts the progression of leukodystrophies.
If your child has recently been diagnosed with Krabbe disease, we want you to know that you are not alone — the Program for the Study of Neurodevelopment in Rare Disorders, part of the Center for Rare Disease Therapy at Children's Hospital of Pittsburgh of UPMC is here to help. Here's what you can expect when you come to us for a consultation.
The Program for the Study of Neurodevelopment in Rare Disorders can usually see a new patient within two days. To make an appointment, please Mary Brannaman at 412-692-6350.
You can expect your first visit to take from 4 to 6 hours. Your child will receive a comprehensive evaluation and may be seen by several other doctors and health care professionals in addition to our expert, Maria Escolar, MD, MS, director of the Program for the Study of Neurodevelopment in Rare Disorders.
Your child will receive a comprehensive evaluation to establish or confirm a precise diagnosis and determine how much the disease has progressed. Because we work as a team here at the Center for Rare Disease Therapy, during your visit your child may be seen by several other doctors and health care professionals in addition to Dr. Escolar, including a specialist in genetic diseases, a specialist in brain diseases, a specialist in child development, a hearing specialist, and a physical therapist.
We understand that the whole family is affected when a child has a rare disease. 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 in 3 months. You will be introduced to our clinical nurse practitioner, who is available by phone or video conference to help you with any concerns you have between now and your next appointment.
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.
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.
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 Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with Krabbe disease, please contact:
DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment
The Natural History of Infantile Globoid Cell Leukodystrophy
Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors
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:
Children’s Hospital of Pittsburgh of UPMC
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: