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Patient Advocacy: Interview With The Sturge-Weber Foundation

June 30, 2014

This is the fourth Blog Post in a series that examines the influence and power of patient advocacy groups, foundations, and alliances in helping and influencing clinical research and the different stages of drug development.

The Orphan Druganaut Blog had the opportunity to interview Karen Ball, President and CEO at The Sturge-Weber Foundation, to discuss the rare diseases Sturge-Weber Syndrome (SWS) and Klippel-Trenaunay (KT) Syndrome, and the mission and work that The Sturge-Weber Foundation is doing.

(1)  Please explain what Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome are? What are the symptoms, treatments, and incidence of each?

Sturge-Weber syndrome (SWS) is a rare neurological and skin disorder characterized by nervous system problems and a permanent birthmark, known as a Port Wine Birthmark (PWB), usually on the face. SWS affects approximately 1 in 40,000 to 1 in 400,000 globally and fewer than 200,000 in the U.S.

The symptoms associated with SWS include seizures and convulsions, a Port Wine Birthmark, glaucoma, migraines and headaches, developmental delays, mood/behavior problems and paralysis/weakness.

Sturge-Weber syndrome is typically treated based on the patient’s symptoms. Treatments include:

•   Anticonvulsant medications control and combat seizures
•   Neurosurgery to remove or disconnect the affected part of the brain when anticonvulsant medications do not prove effective
•   Laser therapy to lighten or diminish the Port Wine Birthmark
•   Eye drops or surgery to treat glaucoma, based on severity of the condition
•   Educational therapy to treat those with developmental delays
•   Physical therapy to treat patients who experience paralysis or weakness.

SWS affects all races and sexes equally, with no clear genetic pattern. Two cases of SWS almost never arise in the same family. One in 50,000 people born in the U.S. will have SWS.

Klippel-Trenaunay Syndrome is a vascular disorder of unknown cause. Klippel-Trenaunay (KT) is characterized by the following symptoms:

•   Port Wine Birthmark covering one or more limbs
•   Vascular anomalies, usually varicose veins, absence or duplication of a venous structure
•   Limb malformation, hypertrophy (enlargement of the limb) or atrophy (withering or smaller limb). KTS involves the lower limbs in approximately 90% of the cases.

In rare instances, patients with KT do not have a Port Wine Birthmark. In addition, all three symptoms do not need to be present for the syndrome to exist. Each case of KT is different, with patients having varying symptoms and severity.

KT can affect the patient’s internal organs, as well as cause hematuria (blood in the urine) rectal bleeding, vaginal bleeding and cellulitis (infection within the skin). Bleeding from the affected limb is also common. Patients may also experience anemia, blood clots and platelet trapping in the affected limb.

Some patients can develop a very serious clotting abnormality called DIC (disseminated intravascular coagulation), which can develop after trauma, pregnancy or surgery. Seizures are also associated with KT. There have been reports of learning disorders and KT in some patients. Most patients report pain in the affected limb.

(2)  What is the mission of the Sturge-Weber Foundation? What is the history of how the foundation was founded?

The Sturge-Weber Foundation’s international mission is to improve the quality of life and care for people with Sturge-Weber syndrome and associated Port Wine Birthmark conditions through collaborative education, advocacy, research and friendly support. The Sturge-Weber Foundation is a 501(c)(3) non-profit organization with an ever increasing worldwide membership and is funded by corporate and private donations, grants and fundraising activities.

The SWF was founded in 1987 as my family began searching for answers after my daughter, Kaelin, was diagnosed with Sturge-Weber syndrome at birth. The SWF was incorporated in the USA in 1987 as an international non-profit organization for patients, parents, professionals and others concerned with Sturge-Weber syndrome. In 1992, the mission was expanded to also support and serve individuals with capillary vascular birthmarks, Klippel Trenaunay (KT) and Port Wine Birthmarks.

(3)  What types of support does the foundation offer to patients, families and caregivers?

One of the Sturge-Weber Foundation’s main goals is to support the Sturge-Weber community through collaborative education, patient advocacy and friendly support. Some of the ways we do this is by providing educational tools, including:

•   Disease-focused SWF posters and flyers
•   The Sturge-Weber Syndrome textbook and other educational publications (e.g., A Kids Guide to Sturge-Weber Syndrome, Teen Guide to Sturge-Weber Syndrome, Someone Special, or Color me Different Color me The Same Coloring Book)
•   Information about the importance of tissue donation
•   Branching out periodic newsletter, booklets for schools, colleges and medical schools
•   A special supplement to Branching Out called Nourishing the Roots to a Cure, featuring the latest news and progress in the Foundation’s efforts to support SWS research
•   Emergency room guide for SWS
•   Information kit for schools and daycare centers
•   School nurse brochure.

 (4)  Does the foundation provide support to the academic and scientific communities for finding treatments and cures?

To help advance research and treatments for SWS, the SWF awards research grants relating to:

•   Studies of the gene expression of SWS, clinical issues relevant to individuals with SWS
•   Angiogenesis, neurogenesis, neuroendocrinology, neuropsychiatric and behavior issues
•   Glucose metabolism and cerebral blood flow
•   Neurobiology studies that are innovative and pursue new avenues of investigation related to all aspects of Sturge-Weber syndrome and Port Wine Birthmarks
•   Glaucoma and blood flow studies investigations targeting the adult SWS population.

The Sturge-Weber Foundation established the SWS Centers of Excellence to further support ongoing research into SWS and related diseases. The Centers of Excellence evolved out of the Foundation’s expanding network of healthcare professionals and scientists interested in improving the quality of life and care for patients living with SWS and PWBs. Each Center is staffed by a team of specialists who collaborate in the evaluation and management of each patient.

These Centers of Excellence also work on other diseases with vascular malformations to share information and basic research. This consortia model has been groundbreaking for rare diseases and the Foundation is seeing evidence that it will continue to have a big impact on the research and development of an overall understanding of diseases with vascular malformations.

The Foundation has launched the online Sturge-Weber International Patient Registry for individuals diagnosed with SWS or PWB in the forehead and/or eye region. The goal is to identify effective treatments to help those with SWS and PWB experience life to the fullest.

For more information about the Sturge-Weber International Patient Registry, please visit the website.

(5)  What would you like everyone to know about your foundation and goals for the future?

The Foundation will be launching an online Learning Center this year. We’ve found that people access information on their syndrome or treatments for a reason, a season or a lifetime which is where our tagline came from.  The Foundation has the ultimate goal of being out of business when services are no longer needed, but until that time we aim to provide the most comprehensive global education, awareness and networks of support while fostering research. We just awarded almost $90,000 in research grants this spring to continue investigating the GNAQ gene mutation and to develop a SWS model in the skin over the next two years. In addition, we are in the planning stages of a global meeting for organizations dedicated to vascular malformations and plan to continue to spread awareness and hope for a reason, a season and if need be a lifetime!

(6)  Are there international organizations that your found works with?

The Foundation works with other Sturge-Weber organizations around the world to promote awareness, collaborate on healthcare and patient education and to be a resource on latest developments in research. The Sturge-Weber Foundation also partners with international organizations that serve healthcare professionals and scientists to provide access to key opinion leaders and promote awareness of the syndromes and research funding opportunities.

For more information about the Sturge-Weber Foundation, please visit:

•    Facebook

•    Website

•    Twitter: @SturgeWeber

Logo courtesy of The Sturge-Weber Foundation.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

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