Vanishing White Matter Disease

Vanishing white matter (VWM) disease is an inherited condition caused by a faulty gene. Children with VWM disease have a defective protein that prevents the body from making enough myelin, a white, fatty substance that insulates nerve fibers, protecting them from damage. Nerve fibers covered by myelin are known as “white matter.” Without myelin, nerves throughout the body deteriorate and disappear. Symptoms, such as muscle stiffness and poor bodily coordination, often begin to appear between ages 2 and 6. The disease can get worse if the child has a fever, an infection, or a head injury.

Maria Escolar, MD, PhD

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.

What to Expect

If your child has been diagnosed with VWM disease, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help. Here’s what you can expect when you come to us for a consultation.

How quickly can we get an appointment?

The Program for the Study of Neurodevelopment in Rare Disorders (NDRD) can usually see a new patient within 1 week of scheduling an appointment. To make an appointment, please call the NDRD at 412-692-9955 or send an email to NDRD@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 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.

What will happen during our first visit?

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. These other health care professionals may include 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.

How long might we have to wait for test results?

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 Children’s Hospital of Pittsburgh of UPMC.

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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 Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with VWM, please contact:

Jodie Vento, MGC, LCGC
Phone: 412-692-7273
Email: RareCare@chp.edu