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There are many ways you can help children and their families get the care they need.
The Sturge-Weber Clinic at Boston Children's Hospital cares for children who have Sturge-Weber syndrome (SWS) — a rare, congenital disorder characterized by a port-wine birthmark on the face and neurological abnormalities. Our Clinic is one of 10 Centers of Excellence in the U.S. recognized by the Sturge-Weber Foundation for the comprehensive care our clinic provides.
The disease can involve a range of complications: In addition to the birthmark, children may experience seizures, developmental delays, muscle weakness and eye problems, so a number of different specialists on our team may work together to care for your child. Our team includes clinicians from:
In partnership with multi-departmental teams, the Translational Neuroscience Center, the Vascular Anomalies Center and the Vascular Biology Program, members of the Sturge-Weber Syndrome Clinic team are conducting research to advance our understanding of how SWS develops and how it progresses. Patients sometimes have unique opportunities to participate in research through donation of blood or tissue samples.
In recent years, Boston Children’s researchers have identified the cellular location of the mutated gene, GNAQ R183Q, responsible for causing SWS. From patient-donated samples of malformed skin and brain capillaries, researchers have pinpointed the GNAQ R183Q mutation in blood-vessel cells called endothelial cells.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”