What motivated you to create the Sturge-Weber Foundation?
I established the Sturge-Weber Foundation out of a deep desire to find out what caused this devastating rare disease that affected Kaelin, my first child, from birth. I wanted to find other families who were going through what I was and to find clinicians to gain expertise in the care and treatment of individuals born with Sturge-Weber syndrome (SWS). Ultimately, I wanted to identify worthy research investigations into the cause and cure of SWS.
Initially, with a typewriter, telephone, and unfinished basement I set-up an office space in my home to answer inquiries from parents and individuals. My local paediatric neurologist, ophthalmologist, and dermatologist helped spread the word of our organisation and content development for our first informational brochure. A flyer was drafted and put in the conference bags at a Child Neurology Conference, which brought new patient referrals and interested neurologists. Since there was no internet then, we initially funded the printing, postage, and handling costs to mail information and direction to those in need. We had an attorney donate her time to incorporate us and slowly we began receiving donations to cover the phone bill, mailing, and printing. A few years into our incorporation I reached out to a pharmaceutical company that gave us our first corporate grant to cover the burgeoning expenses which included the 1-800 telephone line. An Anne Landers column in the early 1990s doubled our membership and really set us on the road to the full spectrum of comprehensive service we have today.
How has the Foundation and your role within it changed over the years?
The Foundation now has the ability to host international conferences and educational forums around the US, linking people impacted by a diagnosis of SWS with leading experts in their field to learn and share experiences. The 1-800 number is still used to connect with us but the Internet is typically the first point of contact. The Foundation’s nine full time staff and volunteers now handle inquiries from the 6000 identified individuals with SWS and their families for information, family networking, and physician referral services.
The personal service and care each person receives when they reach out to the Foundation hasn’t changed and I’m very proud that our core values of compassion and service have remained through our years of growth. When our members attend conferences, many report that it’s like attending a family reunion. The breadth and scope of our services has expanded with the help of more hands on deck and having the Foundation in an office allows me to give my family more time versus the early years when envelopes and letters were stacked and phone calls were answered during Kaelin’s nap time. My role has involved more administrative duties and more strategic thinking than I did in the early years, when as the main point of contact I was giving advice, referrals or being an event planner. I have always liked being involved in the scientific side of the Foundation and learning about multi-systemic challenges to care and treatment as well as genetics and research studies.
Initially, the Foundation was formed to assist those living with a Sturge-Weber syndrome diagnosis. It became evident over time as we received more and more inquiries that individuals with port wine birthmarks needed a place to network and learn more about the capillary vascular malformations impacting their lives. There was a rare condition called Klippel-Trenaunay that also involved capillary vascular malformations which made the patient’s limbs become enlarged and painful. We expanded our network to include these aspects as well. I remember my father telling me as a young girl who had and still has a deep capacity for love and sharing, ‘Kar, you can’t mother the world!’ and it still makes me chuckle to realise how far we’ve come.
What made you want to pursue research and not only focus on support services?
The SWS research initiative was always part of the strategic plan but it wasn’t until the Betty Ford Award, which came with a stipend, that we had the ability to set aside funding for research investigations. It was an exciting time of new growth and possibility. I always believed that support services and research had to be jointly pursued to achieve our goals. The patients shared their information and data with us, the Foundation stored the data to document SWS manifestations with what is now known as a registry, and we engaged clinicians and scientists to use the identified data to find trends that were the initial corpus of data for larger research studies. This is how we discovered angiogenesis, growth hormone abnormalities, and immune suppression are also involved in the syndrome.
Along the way, I attended medical and scientific meetings to spread the word about Sturge-Weber syndrome progress, and the research fund became larger owing to local special events. As volunteers became more prolific in their respective areas of interest, the Foundation was able to expand services, fund more research grants, and hire staff to keep up with the pace of discovery and the need for services.
Eventually, we had enough core disease data sets that we believed it was time the National Institutes of Health (NIH) take an interest and we held our first workshop in 1999. This first workshop was to develop a consensus of treatment and care as well as to identify areas of research interest. This workshop was a critical event which spurred a whole new level of interest in the disease and established new research directions. During this time period in the late ’90s, we began banking tissue samples whenever patients had to have brain surgery or skin tissue biopsies when they had laser surgery to remove the birthmark. We didn’t know at the time how or when we would need to use the tissue but a scientist was later able to confirm that there is hypermyelination that occurs in SWS using those precious tissue samples. Those donating the samples were and are so cherished for their gifts of tissue.
It is clearly evident one person can make a difference and when joined with other like minded people momentum continues to build. The new millennium has been a time of renewed hope and progress for families and all those people touched by their stories of tenacity and courage. The strategic research plan always had at its core an aim to find out what caused SWS. Some parents were reluctant to participate in research studies because they didn’t want to know if they caused SWS or the birthmark, so without skin and brain tissue samples or blood samples our hands were tied but eventually we had enough samples banked and I’m so proud to report that in May 2013 we did find the cause of SWS , which is a GNAQ gene mutation.
What is the role of the Sturge-Weber Foundation’s Centers of Excellence?
The Centers of Excellence evolved out of our expanding network of healthcare professionals and scientists interested in improving the quality of life and care for patients living with SWS and birthmarks. The Foundation also recognised that establishing these centres around the country would be beneficial to families; they could help lessen the impact on quality of life and financial stress for parents needing to take time off work or to take children from school by enabling them access to experts close to home or near their home state. Each centre is comprised of teams of clinicians that treat all aspects of Sturge-Weber and support families as they cope with the emotional and financial challenges of living with a rare disease.
We have a number of centres that are conducting clinical trials in Houston and Philadelphia on angiogenesis related to seizures and glaucoma. The Detroit SWS Center is conducting PET scan imaging studies and was awarded another NIH 5 year grant to continue their work.
What next for the Foundation?
The Foundation has just recently launched an online learning centre. 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 about. 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. In early 2014, we awarded almost $90000 in grants to researchers to continue investigating the GNAQ gene mutation and to develop a SWS model in the skin. We are currently in the planning stages of a global meeting for organisations dedicated to vascular malformations and plan to continue to spread awareness and hope for a reason, a season, and if need be, a lifetime.