DESCRIPTION
Neurocutaneous Disorders
SWS is part of a group of disorders called “neurocutaneous disorders.” All disorders in this group affect the skin and the nervous system. They may also affect various other parts of the body.
SWS and the Blood Vessels
In a healthy nervous system, the blood vessels around the brain, the eyes, and the nerves develop normally. In SWS, however, abnormal blood vessels form in certain areas of an otherwise healthy nervous system. This can injure the brain and eyes over time.
Some individuals with SWS may not show symptoms until later in life.
CAUSE
SWS is caused by a rare mutation in the GNAQ gene. The mutation is de novo, meaning that it is new in the child. It is not passed down from parents. Instead, it occurs randomly during the development of the embryo. About 1 in 50,000 children are born with this mutation.
The GNAQ gene is a code of instructions that tells the body to make a protein called “guanine nucleotide-binding protein G(q) subunit alpha” (or “Gαq”). This protein is involved in the cell communication needed for the development and function of blood vessels.
The mutation is not seen in the entire body. Instead, it appears in a smaller region of the developing embryo. It leads to the development of abnormal blood vessels in unique parts of the body, including the face, brain, and eyes.
Patients with SWS often benefit from care by a multidisciplinary team throughout life. This team might include:
Neurologists.
Dermatologists.
Resources
The Sturge-Weber Foundation
The Sturge-Weber Foundation (The SWF) global mission is to improve the quality of life and care for people with Sturge-Weber syndrome and associated Port-Wine Birthmark conditions through tenacious collaboration with clinical partners and pioneers, education, advocacy, research, and friendly support. Since 1987 thousands of people have been served and continue to be served by the SWF’s one on one phone support, family networking program, education, physician referral service, medical education programs, and research endeavors.
Sturge Weber UK
The main and most important role of Sturge Weber UK is to provide support and information for people with Sturge-Weber syndrome and their families. They have been holding National Family Days since 2009. The next goals are to produce leaflets on all aspects of the syndrome and raise the profile of SWS amongst the medical profession and the non-medical community. This will help to ensure that children are given the appropriate treatment as early as possible. Sturge Weber UK’s website provides the latest news, literature, and general information about SWS. Sturge Weber UK also hosts a private Facebook group with over 100 members.
The Vascular Birthmarks Foundation
The Vascular Birthmarks Foundation (VBF) is an international charitable organization that networks those affected by a vascular birthmark, anomaly, tumor, or syndrome to the appropriate medical professionals for evaluation and treatment. VBF also educates physicians and affected families regarding treatment options, supports relevant research, mobilizes medical missions, and empowers those living with vascular birthmarks. VBF also hosts the Vascular Birthmarks Foundation private Facebook group with almost 3,000 members worldwide.
Pediatric Epilepsy Surgery Alliance
The Pediatric Epilepsy Surgery Alliance (formerly known as The Brain Recovery Project) enhances the lives of children who need neurosurgery to treat medication-resistant epilepsy. They empower families with research, support services, and impactful programs before, during, and after surgery. PESA’s programs include research-based, reliable information to help parents and caregivers understand when a child’s seizures are drug-resistant; the risks and dangers of seizures; the pros and cons of the various neurosurgeries to treat epilepsy; the medical, cognitive, and behavioral challenges a child may have throughout life; school, financial aid, and life care issues. PESA’s resources include a comprehensive website with downloadable guides, pre-recorded webinars, and virtual workshops; an informative YouTube channel with comprehensive information about epilepsy surgery and its effects; a private Facebook group (Education After Pediatric Epilepsy Surgery) with over 300 members; Power Hour (bi-monthly open forums and live virtual workshops on various topics); and free school training to help your child’s education team understand the impact of their epilepsy surgery in school. Their Peer Support Program will connect you with a parent who has been there. The Pediatric Epilepsy Surgery Alliance also hosts biennial family conferences and regional events that allow families to learn from experts, connect with other families, and form lifelong friendships. They also provide a travel scholarship of up to $1,000 to families in need to fund travel to a level 4 epilepsy center for a surgical evaluation.
In addition, PESA has resources for medical professionals to assist in helping clinicians help the parents of their patients find the resources they need after surgery. Educators and therapists will also find helpful resources and information, including videos, guides, and relevant research. Patients who have undergone surgery are encouraged to register with the Global Pediatric Epilepsy Surgery Registry to help set future research priorities.
