What Is 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.

Myelin is a white, fatty substance that covers nerve fibers in the brain and protects them from damage. This is where we get the term “white matter.”

Without myelin, nerves throughout the body deteriorate and disappear.

Symptoms, such as muscle stiffness and poor bodily coordination, often start to appear between ages 2 and 6.

The disease can get worse if the child has a fever, an infection, or a head injury.

Your Child’s VWM Consult and Care: What to Expect

If your child’s doctor diagnosed them with VWM 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.

To make an appointment for your child or refer a patient for VWM care, contact us by:

Here’s what you can expect when you come to us for your child’s first consult.

How long will my child’s first visit at the CRDT take?

You can expect your first visit to take from 4 to 6 hours.

What will happen during my child’s first visit for VWM?

Your child will have a thorough exam by our experts of the Neurodevelopment in Rare Disorders Program (NDRD). The team will make or confirm a precise diagnosis and decide how much the disease has progressed.

Other doctors and health care providers may also meet with your child including experts in:

  • Genetic diseases.
  • Brain diseases.
  • Child development.
  • Hearing.
  • Physical therapy.

What are the next steps after my child's VWM visit to the CRDT?

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

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

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

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

We'll call within two weeks to review the test results and the next steps for your child's VWM 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 VWM Care

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

The best care happens when we merge our VWM expertise with your knowledge of your child's needs.

Center for Rare Disease Therapy patient storiesMeet 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 VWM

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:

We’ll be in touch within two business days.