News & Updates

Hiking Camino de Santiago for a Cure

Throughout the month of August, Al DeCesaris will hike 555 miles in honor of his 13-year-old niece, Jenna Heck, and all those living with Sturge-Weber syndrome. Al will hike for 30 consecutive days, hiking in honor of a different child living with Sturge-Weber syndrome each day.

Al's journey will begin in Saint Jean Pied de Port, France, and will conclude in Finisterre, Spain. He is expected to walk an average of 18.5 miles a day.

Al hopes his hike will create awareness about Sturge-Weber syndrome and raise funds for medical research to help further the efforts the find a cure. All proceeds raised will be donated to the Hunter Nelson Sturge-Weber Syndrome Center at Kennedy Krieger Institute.

Since 2006, Al and his family have raised over $1,300,000 for Sturge-Weber syndrome research through various charitable events hosted by the Celebrate Hope Foundation, Inc., their non-profit organization.

For more information about the Hiking Camino de Santiago for a Cure charity event, please visit the Celebrate Hope Foundation page.


Running the Coast for a Cure Book Launched!

In 2014, fundraiser and advocate Al DeCesaris set out on a three month, 1,935-mile solo run from Maine to Florida. He ran nearly a marathon a day to create awareness and raise funds for Sturge-Weber syndrome, a rare and devastating neurological disorder that affects his 10-year-old niece Jenna.

In his new book, Running the Coast for the Cure, Al chronicles his harrowing journey facing the rigors of the road, numerous injuries and encounters with wild animals. He also shares his experiences with generous strangers and heartwarming interactions with families affected by Sturge-Weber syndrome.

All proceeds from Al’s book will directly support Dr. Anne Comi’s research in Sturge-Weber syndrome at Kennedy Krieger Institute. His journey of love and hope will leave you inspired. Get your copy of Running the Coast for a Cure today!


Researchers Gather to Discuss SWS

Following our 2013 of the gene GNAQ that causes Sturge-Weber syndrome, we received a grant from The National Institutes of Health to plan a workshop on SWS. We brought clinical and translational researchers together in Bethesda, Maryland in April 2015 to present and discuss current knowledge of SWS and to create future research plans.  We came up with four main priorities for future research, and we have been working since the workshop to further these goals:

  1. Establishing clinical consensus for screening and diagnosis: We are working to bring together the opinions of experts on SWS from across the globe to determine the best approach to questions such as how pediatricians  should be screening and making referrals for SWS.
     
  2. Developing a clinical trial network: We are connecting to develop multi-center clinical trials, which will allow us to combine the knowledge and resources of multiple researchers and extend our reach to patients who might not otherwise be able to participate in a clinical trial at a particular center center.
     
  3. Creating a centralized tissue banking system: We are discussing the possibilities for a single tissue bank that can serve the needs of all the researchers who want to use SWS tissue for their studies.
     
  4. Collaborating to create and improve upon animal and cell culture models of SWS: Here at Kennedy Krieger, we have recently received a grant to develop a mouse model for SWS and Port-wine birthmarks. We hope to share this work with other researchers and learn from other models that are in development.

Game-Changing Discovery Of Gene Mutation That Causes Sturge-Weber Syndrome, Port-Wine Stain Birthmarks Offers New Hope

Kennedy Krieger Researchers Pinpoint Genetic Cause of Rare Disease and Common Birthmark 

BALTIMORE, MD -- In new findings published today in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause – a genetic mutation that occurs before birth – of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.

"This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks,” said co-senior study author, Anne Comi, M.D., Director of the Kennedy Krieger Institute’s Hunter Nelson Sturge-Weber Center. “Now that we know the underlying genetic mutation responsible for both conditions, we’re hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time.” Read more >

Additional Coverage of the Discovery:

Baltimore Sun WebMD.com HealthDay
U.S. News & World Report The Business Journals My Health News Daily
Genetic Engineering News FoxNews.com MedPage Today

Coloradoan.com: Couple who lost son help make medical breakthrough" Robb and Wendy Nelson started a foundation that led to a key discovery about the disorder their son Hunter died from. (June 2013)

Baltimore Sun: "Expert Advice: Birthmark could signal disorder" Dr. Anne Comi provides tips on how to determine when a birthmark might be a sign of something more. (January 2010)


Thank You to Our Continued Supporters!

We would like to thank the Celebrate Hope and Faneca 66 Foundations for their ongoing and generous support, which helped make the Crossing America for a Cure event a huge success.

The Heck and DeCesaris families, who have been instrumental in supporting our center through the annual Bands on the Bay fundraiser, have continued their mission of creating awareness about Sturge-Weber syndrome and raising funds for diagnosis, research, and treatment through the creation of the Celebrate Hope Foundation. The Celebrate Hope Foundation hosted the Crossing America for a Cure event, which donated all proceeds directly to our center. After hearing about the Crossing America for a Cure event, the Faneca 66 Foundation generously agreed to match all donations, dollar for dollar.

We are incredibly appreciative of the support from both of these foundations, as well as everyone else who helped to make this event a success. We rely on these fundraising efforts in order to make our center a success. We continue to research better diagnosis and treatments for Sturge-Weber syndrome, and private philanthropic support allows us to move forward with that mission.

Please click here to find out more about the Celebrate Hope Foundation.

St. Mary's alum bicycles across country for a cure

Peddle On: Man Bikes 3K Miles For Rare Disease Awareness


Additional Media coverage

NIH Expansion of Rare Diseases Clinical Research Network to Include Kennedy Krieger Institute (October 2009)

Research Update: The Hunter Nelson Sturge-Weber Center Provides New Insights into the Treatment of Patients with Sturge-Weber Syndrome (April 2009)

Heck Family and Dr. Anne Comi profiled in article in the Capital Gazette (April 30, 2009)

Baltimore Sun profiles local Annapolis family and their fundraiser for the Hunter Nelson Sturge-Weber Center (April 26, 2009)

Read article in Pediatric News on Dr. Anne Comi discussing brain involvement in Sturge-Weber Syndrome (February 2009)

Dr. Anne Comi discusses port-wine birthmarks and SWS with Pregnancy & Newborn magazine (September 2008)

Read article in Pediatric News on Dr. Anne Comi discussing the management of Sturge-Weber Syndrome (November 2007)

Hunter Nelson Sturge-Weber Center featured in front page story in the Baltimore Sun (September 30, 2007)

Woman's World magazine sheds light on SWS - read their profile of a Hunter Nelson Sturge-Weber Center patient and her family (April 3, 2007)

A Devastating Disease Beneath the Skin. Johns Hopkins Physician Update: Dermatology. Baltimore, MD. Fall 2002. p 4.

Press release: Hemispherectomy End Seizures in Many Older Children with Rare Seizure Disorder. Baltimore, MD. December 9, 2002.

Sturge Weber Center Unites Hopkins And Kennedy Krieger Resources Against Vascular Disease. Johns Hopkins Children’s Center News. Baltimore, MD. Fall 2002.

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Institute Discovers the Cause of Sturge-Weber

To learn more about our recent discovery View our press coverage

Dr. Comi's Updates

Dr. Comi announces research findings, posts important information, and answers questions of general interest to families living with Sturge-Weber syndrome. 

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Sturge-Weber Center Events

Get on Tap for
Sturge-Weber Syndrome:

Thursday, October 19
 
Fall 2017:
Tropical Realty Charity Golf Tournament
More information to come!
 

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