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A Lifeline For A Lifetime.

12345 Jones Road, Suite 125 Houston, TX 77070

SWF at Capitol Hill

SWF Education Conferences From East to West

A PUBLICATION OF THE STURGE-WEBER FOUNDATION

TeamSWF 2018 Falmouth Road Race

Branching Out

The Sturge-Weber Foundation

September/October 2018

973.895.4445 www.sturge-weber.org swf@sturge-weber.org


The Sturge-Weber Foundation MAGAZINE CONTACT INFORMATION 12345 Jones Road, Suite 125 Houston, TX 77070 973-895-4445 swf@sturge-weber.org www.sturge-weber.org DESIGN/EDITOR Susan FInnell EDITORIAL CONTRIBUTIONS Karen L. Ball, SWF CEO Anne Howard, SWF Writer Susan Finnell, Marketing/Programsn Dir. Dr. Jonathan Pevsner, SWF CSO Julia Terrell, SWF Community & Events Dir. BOARD OF DIRECTORS Kris Sadens, Chair Glenview, IL Crystal Elliers,Vice Chair Slidell, LA Stephen Peltier, Treasurer Denver, CO Jeff Needham, Secretary Los Gatos, CA Woody Crouch, Scarsdale, NY Curt Stanton, Lake Forest, IL Karen L. Ball, President/CEO Aurora, CO HONORARY BOARD MEMBERS Linda Larach Cohen, New York, NY Stan M. Fisher, Big Fork, MT Roy Geronemus, MD, New York, NY Joseph Morelli, MD, Aurora, CO Gerard E. Puorro, Wayland, MA Melanie Wood, Bellaire, TX MEDICAL ADVISORY BOARD Johathan Pevsner, MD, PhD Chief Scientific Officer Jeffrey Loeb, MD Chief Clinical Strategist Tina Alster, MD Craig Burkhart, MD Roy Geronemus, MD Mustafa Sahin, MD Eric Segal, MD

SWFIRN ADVISORY COUNCIL Kristin Kelly, MD Jeffery Loeb, MD Anna Pinto, MD Doug Marchuk, MD Jonathan Pevsner, MD, PhD CONSULTANTS Jack Arbiser, MD, PhD Jerome Garden, MD Joseph Morelli, MD Thuy Phung, MD Robert Ritch, MD Oon Tian Tan, MD

The SWF is a member of the Brain Vascular Malformation Consortium (BVMC),American Brain Coalition (ABC), The Coalition of Skin Diseases (CSD),and the Association for Research in Vision and Ophthalmology (ARVO).

Branching Out September/October 2018

IN THIS ISSUE . . .

On the Front Cover: Jessica Melo & Pamela McIntyre, Warrior Moms behind the Annual Falmouth Road Race Page 3:

Connecting with Karen

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SWF Education Conferences

Page 6:

Recap: Falmouth Road Race

Page 8: Advocating on the Hill Page 11: Growing Golden Series Page 16: Spotlight on Research Page 18: SWF Community News Page 21: SWF Fundraising Ideas Thank you for your continued support through Best Local Charities of America (SWF #11857). Port Wine Birthmarks (PWB) on the skin are developmental abnormalities in blood vessel formation (capillary malformations) that are more extensive and darker than the pink capillary birthmarks often seen at the nape of a baby’s neck. Sturge-Weber syndrome (SWS) is a rare congenital condition usually consisting of a facial port wine birthmark, glaucoma, and seizures, (although not all of these symptoms may be exhibited). SWF POLICY STATEMENT: In implementing the purpose of The Sturge-Weber Foundation to improve the quality of life for individuals

with SWS and their families, the Foundation will act as a clearinghouse of information, provide emotional support and facilitate research on PWB and SWS. The Foundation will seek information regarding management and treatment techniques and suggestions concerning education and emotional support and will facilitate the dissemination of appropriate information. If, in facilitating research on PWB, SWS and KT, the Foundation provides financial or other support to a particular research project, the Foundation will base its decision upon need, the Foundation’s financial resources and medical advice.

THE STURGE-WEBER FOUNDATION

CLINICAL CARE NETWORK

California: • UC-Irvine Primary Contact: Kristen Kelly MD, Dermatology • UCSP Medical CenterSan Francisco Primary Contact: Ilona Frieden, MD, Dermatology • Rady Children’s HospitalSan Diego Primary Contact: Lawrence Eichenfield, MD, Dermatology Sheila Friedlander, MD, Dermatology Delaware: • Nemours duPont Hospital for Children-Wilmington Primary Contact: Carol Roethke, CRNP-APRN Illinois: • Ann and Robert H. Lurie Children’s Hospital Primary Contact: Sarah Chamlin, MDVascular Clinic Director • University of Illinois at Chicago Medical Center • Primary Contact: Jeffrey Loeb, MD, Neurology • Akira Yoshi, MD, Neurology Massachuessets: • Boston Children’s Hospital • Primary Contact: Mustafa Sahin, MD, Neurology • Anna Pinto, MD, Neurology Michigan: • Children’s Hospital of Michigan-Detroit • Primary Contact: Csaba Juhasz, MD, Neurology Imaging • U of Michigan Mott Children’s Hospital-Ann Arbor • Primary Contact: Jennifer Reeve, MD, Dermatology Minnasota: • Mayo Clinic-Rochester Primary Contact: Megha Tollefson, MD, Dermatology

North Carolina • UNC Children’s HospitalChapel Hill Primary Contact: Craig Burkhart, MD, Dermatology New Jersey: • Northeast Regional Epilepsy Group-Hackensack Primary Contact: Eric Segal, MD, Neurology New York: • NYU Medical Center-NYC Primary Contact: Daniel Miles, MD, Neurology Ohio: • Cincinnati Children’s HospitalPrimary Contact: Adrienne M. Hammill, MD, Hemangiona and Vascular Malformation • Nationwide Children’s Hospital-Columbus Primary Contact: Warren Lo, MD, Neurology Puerto Rico: • Centro Medico de Puerto Rico-San Juan Primary Contact: Rafael Rodriquez Mercado, MD, Endovascular Texas: • Cook Children’s Medical Center-Fort Worth Primary Contact: Saleem Malik, MD, Neurology • Dell Children’s Medical Center-Austin Primary Contact: Moise Levy, MD, Dermatology Washington: • Seattle Children’s Hospital Primary Contact: Jonathan Perkins, DO,Vascular Clinic Director For updates on list of CCNs, go to sturge-weber.org to “For Patients” and click on Clinical Care Network.


Connecting with Karen s

Mentally Tough! Seek out inspiration anywhere you can find it Been thinking a lot lately about being mentally tough. Some have it, some don’t… why? My parents have always led by example and when they fell short of what they believed was honorable or right, they always said I’m sorry or made restitution. I believe being mentally tough is best ingrained in a person when it is modeled from a very young age. There are some people we meet in our lifetime that reinforce the benefits of being tough and serve as inspiring examples that make us want to emulate them. So, if you didn’t have parents who nurtured and modeled being mentally tough…seek those people out. Modeling toughness is when you make it a habit to make your bed every day, push your chair in, turn the lights out, stand up for the elderly or weak on a bus etc. Show UP even if you don’t want to if you made a commitment. Keep commitments. Honor your parents and thereby yourself. You CAN do “it” even if it’s just one breath or one step at a time. We all have these things called telomeres. Telomeres help us stay strong in the face of adversity and we need to take care of them so we have them for a lifetime. Some people, due to life circumstances and stressors, have very short telomeres and don’t have the ability to stay mentally tough for long periods of time. Personally, I have my moments. You know the ones, where in your heart of hearts you know you have dropped the ball, given up and let people down and ultimately yourself too. If you’ve been trained to be mentally tough, you forgive yourself in those moments and pick yourself up, dust yourself off and carry on. As a teacher, one of my favorite books was and still is “The Little Engine That Could”. The excitement of thinking, will the train make it and cheering him on still resonates with me. Seek out inspiration anywhere you can find it! It’s easy to get sucked into someone’s negative nature. Don’t let yourself do so. There are always those people who need our joy or our inspiration in times of need…the trick is to exude it for them but keep from getting mired in their weakness. I have learned to give myself 3 days to solve a problem. One day to fuss and stew, one day to problem solve for solutions,and lastly, take steps to remediate the issue. If I stick to this formula, life and my emotions don’t get stuck…stuck does us no good! I look forward to hearing your stories of who inspired you and how you have been guided to be mentally tough. Please post them on Facebook or send an email… we’ll compile them for those coming after us who will need our collective toughness to face not only the challenges of a SWS diagnosis, but in life too! Faith, Hope and Love,

September/October 2018

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SWF News and Events s

SWF News and Events s

SWF Education Conferences

RECAP:

Education Conference at Nemours duPont

SWF Education Conferences are an excellent opportunity for patients, caregivers and professionals to come together as a community to educate, care and share. Each conference is located at one of SWF’s Clinical Care Network centers. Check out the upcoming conferences planned across the country and visit with CCN professionals and SWF Staff! Cook Children’s Medical Center Ft. Worth, TX Hochberger Auditorium, 801 7th Ave. Saturday, October 20, 8 AM - 12 PM Dr. Dave Shahani, Neurology Dr. Alan Norman, Ophthalmology Dr. Heather Volkman, Dermatology Dr. Kia Carter, Psychiatry Contact: Amy Davis, amy.davis@cookchildrens.org

On July 14th, SWF co-hosted an Education Conference at Nemours/ Alfred I. duPont Hospital for Children in Wilmington, DE. There were 15 in attendance.

Dr. Chugani, Karen Ball, Dr. Falchek and Carol Greene-Roethke at Education Conference.

The day was completed with lunch and time to get to know one another and ask questions. One great take away from the conference was Dr. Sperling explaining the importance of coming prepared to appointments, especially from the very beginning. The day was full of topics for everyone and very well rounded. We encourage you to participated in an education conference hosted near you!

Univeristy of California - Irvine, CA Saturday, October 27, 8 AM - 2 PM Discussions with Experts on research and treatments, ask questions about PWB, Glaucoma, Neurology and more. Details coming soon on guest speakers and how to register.

Save the Date!

The SWF 16th International Family Conference

University of North Carolina Chapel Hill, NC Saturday, November 10, 8 AM - 2 PM Discussions with Experts on research and treatments, ask questions about PWB, Glaucoma, Neurology and more. Details coming soon on guest speakers and how to register.

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The conference began with Karen Ball and Carol Greene-Roethke from Nemours welcoming the families. The Nemours team then talked about Glaucoma, Behavior Management and Nutrition. Dr Chugani and Dr. Sperling talked about neurology and the transition into adulthood respectively.

July 18-20, 2019 Wilmington, DE Detailed information and online registration coming soon! The Sturge-Weber Foundation

September/October 2018

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SWF News and Events s

SWF News and Events s

Honor Roll of Falmouth Road Race Warriors

RECORD BREAKING ROAD RACE 2018 TeamSWF Falmouth Road Race Continues to Grow Every Year Please join the SWF Board and Staff in celebrating and thanking the following champions for their time, training and continued support for SWS patients and families. An extra special thank you to Pam McIntyre and Jessica Melo for their continued support and organization of this annual event for 9 years! There simply isn’t another team of champions quite like TeamSWF! Once again, with Pam McIntyre and Jessica Melo leading for the 9th year in a row, TeamSWF broke records at the Falmouth Road Race.

Pam McIntyre and supporters during the course of the race.

Kate Sanders receives award for 5 year participation and support.

Nancy Carpenter receives award for 5 year participation and support.

This year, the number of donations, overall donated amount, number of runners and the distance traveled to join the team exceeded years past. • • • •

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Runners from as far as Portland, Oregon and Indianapolis, IN participated this year One donor contributed to every runners page (40 runners) There were over 1,450 individual donors Over $148,795 (gross), $119,935 (net) donated and donations are still coming in

9 Years - Pam McIntyre, Jessica Melo 7 Years - Chris Marino 6 years - Michelle O’Connor, Octavio Melo, Jonathan Desmaris 5 Years - Nancy Carpenter, Kate Sanders 4 Years - Erin Kelley, Brent Crouch, Mike Collins, Julie Brady, Woody Crouch 3 Years - Peter Sullivan, Carol DiPietro, Melanie Arena, Kim Auen, Mark Banks, Olivia Melo, Trish Bourne 2 Years - Lisa Ballantyne, Alicia Fannon, Kym Fischer, Kate Tiberio, Dan McIntyre, Courtney Mello 1st Year - Kellie Sadens, Kate Schultz, Jen Pagliuca, Mark Fischer, Graham Ballantyne, Chris Wicken, Jason Cafarella, Jasmin Khamis, Will Carpenter, Josh Reed, Bianca Pyko, Ashley Reed, Paul Grew, Jameson Melo, Ben Bourne, Natalie Bourne

Meet and Greet at Pam McIntyre’s home the night before the big race.

TeamSWF on their way to the Falmouth Road Race, August 19, 2018.

The Sturge-Weber Foundation

Kate Sanders, Kelli Sadens, Pam McIntyre and Jessica Melo.

September/October 2018

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SWF Advocacy Report s

SWF Advocacy Report s

ADVOCATING ON THE HILL SWF has a successful trip to Capitol Hill during the AADA Legislative Conference In July, SWF participated in the American Academy of Dermatology’s Legistlative Conference in Washington, D.C. Karen Ball, Brian Fisher, Susan Finnell, Julia Terrell and members Annette and Joel Coutu provided the patient/caregiver perspective on the following asks: Pharmaceutical Access and Affordability Pharmacy Benefit Managers (PBMs) PBMs are intermediaries contracted by payers to manage prescription drug plans on behalf of beneficiaries. Increased transparency in the role PBMs play in setting drug prices will allow patients, physicians, pharmacists and employers to know the true cost of prescription drugs. Consolidation of the industry and current financial arrangements must be monitored to avoid conflicts of interest: Ask to HOUSE: Co-sponsor the “Prescription Drug Price Transparency Act” Ask to SENATE: Co-sponsor the “Creating Transparency to Have Drug Rebates Unlocked” NOTE: Currently there are 3 PMBs that control over 75% of prescription drug plans. Although these PBMs are in place to discount drugs for patients from the manufacturers, there is no transparency or monitoring in place as to how drug prices are set. 8

Regulatory Relief for the Practice of Medicine (Prior Authorization) Prior authorization and appeals policies should not unduly burden patients or physicians in accessing optimal drug therapy. The Centers for Medicare and Medicaid Services (CMS) could alleviate the burden in completing prior authorizations for medically necessary drugs in Medicare Advantage and Medicare Part D participating plans by shortening the turnaround time for decisions, encouraging plans to allow for electronic prior authorizations (ePA), and requiring detailed explanations and clinical rationale for denials and adverse determinations. Ask to HOUSE: Support creating a standardized electronic prior authorization form for Medicare prescription drugs. Ask to SENATE: Cosponsor and vote for the “Electronic Prior Authorization in Medicare part D Act” THE BENEFITS OF ADVOCATING AS A FAMILY Marissa Terrell together with her family, The Sturge-Weber Foundation, The American Academy of Dermatology Association (AADA) and Coalition of Skin Disease (CSD) set out to Washington DC to advocate on the Hill. This past year in school Marissa learned about the Federal Government, The The Sturge-Weber Foundation

Branches of the Government and what She is excited to do it again and to meet their responsibilities entail. It was a bit more people. unclear for Marissa as to who does what and where in the government. The Sturge-Weber Foundation got a call On July 17th, Marissa and her family three days after we were home to find got up early boarded a bus and out more information about our synheaded to Capitol Hill. She would drome so they could help our family. meet with staff from her Senators We also got an email with a letter atoffice. She would also meet tached and after conversations they have Congressmen agreed to help us from all over NJ. with our prescripAt about lunch tions by sending time, she noticed letters to the that on the TV in insurance company Representative to see what can be Lance’s office done to help with there were all a very large cost of these people a drug. They also coming to the mentioned that floor to vote on in the future if we a bill. It truly was wanted to take a a great teaching tour in district they moment when she would help with saw on the TV just that too. We can’t minutes earlier be more grateful. Working with New Jersey Representative, Rep. Lance and then Leonard Lance. he was standing in front of her. The process became much The biggest takeaway is advocating is just clearer what they do and why. Ironically so important for all of us. Our stories enough it was even more important mean so much and when we have a need to meet someone in person like Rep we have to tell our stories. Marissa told Lance who is the Head of the Caucus her story and she will be remembered by of Rare Disease. this team. Now it is your turn who is next to tell your story. We finished out the day in our own Representative office. After much talk TEAM BRIELLE, RHODE ISLAND, about prescriptions and the bills that GOES TO WASHINGTON D.C. are on the floor, Marissa was pretty tuckered out and fell asleep on her On July 14th part of Team Brielle, Rhode Dad. At that moment, Representative Island, headed to Washington D.C. with Norcross came out and sat down with the Sturge-Weber Foundation, CSD us unexpectedly. We started to talk (Coalition for Skin Disease) and AADA about the issues and he stopped and (America Academy of Dermatology said how he used to love when his kids Association) to advocate on Capitol were young and would fall asleep on Hill. Brielle’s grandmother Annette and him and how it was so special. He was grandfather Joel were invited to join other reminded that he had a meeting with members from SWF to spread awareness someone else and he said well his job of Sturge-Weber Syndrome and to bring was to talk with his constituents and awareness of the ever-increasing costs of continued on a few moments with our medications and the lengthy time it takes conversation. We ended the session to get prior authorizations for medications with a picture and off we went. Marissa and other medical needs. talked about the day on the way home and again the days that followed. Annette and Joel Coutu, along with Karen Ball, Brian Fisher, Susan Finnell, Julia, Scott, September/October 2018

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SWF Featured Article s

SWF Advocacy Report s and Marissa Terrell spent three days in DC attending conferences and meeting with each of their local elected officials. They were there to ask for support in a few Acts that are in front of the Senate and House. The first support that they were asking the House for was supporting legislation that requires greater transparency on the part of PBMs (Pharmacy Benefit Managers) through the “Prescription Drug Price Transparency Act” (H.R. 1316) and the Senate to cosponsor Joel and Annette Coutu, grandparent’s of Brielle, visiting the “Creating Transparency to Have Senator Jack Reed with Vincent Criscione M.D., and Drug Rebates Unlocked (C-Thru) Act” Shauna Melvin, RI, Dermatology Society. (S637). This would allow for patients, physicians, pharmacist, and employees authorizations this time could be cut in to know the true cost of prescription half if not more. drugs and rebates allowed to them. The other ASK for the House was support in creating a standardized electronic prior authorization form for Medicare prescription drugs as found in Sec 6062 of H.R. 6, the “SUPPORT for Patients & Communication Act”. H.R. 6 was passed by the House on June 22 to help address the opioid crisis. Senate was asked to cosponsor and vote for the “Electronic Prior Authorization in Medicare Part D Act” (S. 2908). We asked that they keep Sec 6062 which would allow for a faster turn around on the Prior Authorizations that doctors need to fill out for medications which would allow for them to send them electronically. As a patient of Sturge-Weber or caretaker we all understand how frustrating it is to wait for prior authorizations for medications that are life sustaining and how at times we blame the doctors or pharmacies for the lengthy turnaround times. After attending the conference and understanding the amount of paperwork that goes into a doctor getting authorization for medications though paper we now understand the blame is on the amount of work and repeat of paperwork. If they pass these acts in Congress and allow for electronic 10

We also all understand the cost of medications and their copays. How one month it is one price and the next another without any explanation. Allowing for patients and families to know what the true cost is of the prescriptions would stop or slow down the rising prices. Annette and Joel know firsthand how copays go up and without understanding as to why. After being in DC and attending the conference it is clear that PBMs need to be held accountable by sharing the true cost of the medications and any rebates that are offered to the patient. The Coutu’s are very thankful for being asked to attend and to advocate for all our families. They plan on attending more and to help the SWS family. They will be meeting with their local elected officials to spread more awareness and to allow for the senators and representatives to meet Brielle in person this upcoming fall.

WE ARE BETTER TOGETHER!

The Sturge-Weber Foundation

Growing

GOLDEN WITH SWS

GROWING GOLDEN PART 4:

NEUROLOGY Among the many questions SWS adults have many have nothing to do with SWS or neurological symptoms by themselves, but they are everyday things that just might have some connection. Here are some of the most common.

Kelly Flemming, MD specializes in adult cerebrovascular neurology at the Mayo Clinic in Rochester, MN. She responds to these concerns. Q. How does SWS affect my blood pressure? Do I just need to maintain normal adult BP or does SWS complicate things? As an adult the blood pressure goal would be similar to anyone else, less than 130/80 mmHg. Q. Are headaches “normal and routine” for people with SWS? The frequency of migraine is higher in people with SWS than in those without. That being said, not every patient will SWS has headaches. In patients where the headaches are frequent and interfere with daily life, preventive medications can be used. Some of the migraine preventatives are also anti-seizure medications such as topiramate and so the same medication can be used for both symptoms. Medications called triptans that are used for treating acute headaches can affect blood vessels and, in general, are avoided in people with blood vessel abnormalities. Small studies have suggested that some patients with SWS can take these medications. Speak to your doctor about your individual situation before using one of these medications. September/October 2018

Q. To lower my cholesterol, should I be taking statins? If your risk of cardiovascular disease is more than 7.5% over 10 years (see CVriskcalculator.com) then a cholesterol lowering agent may be warranted. Statins are commonly used, but more recently other options are available. (PCSK9 inhibitors, Ezetimibe). Q. Diabetes runs in my family – do I have a greater risk because of SWS? You do not have a greater risk of diabetes due to SWS, but you do have a greater risk if it runs in your family or if you are overweight. To minimize risk, maintain a normal weight and consider moderate exercise at least 5 times weekly if it is possible. Q. Should I be reviewing my anti-seizure drug requirements with a neurologist? I have been on the same AED for about 10-12 years. Over the past 20 years, a number of new anti-seizure medications have been marketed. For the most part, many of these medications have fewer short- and long-term side effects than 11


SWF Featured Article s

SWF Featured Article s the older group of anti-seizure medications (eg. Dilantin, Phenobarbital). Some of the medications are dosed by weight, are affected by kidney and liver function, or have side effects. Thus, it may be useful to check in periodically with a neurologist or primary care doctor to assess any change in weight, change in kidney or liver function, determine if you are experiencing any side effects (physical or laboratory), and determine if there might be any new options for your individual situation. The frequency of visits is highly dependent on which medication, your side effects and the effectiveness. Talk to your neurologist about the frequency of visits. In general, this is at least once a year. Real life experiences from some SWF families. Every family is unique, but these shared stories may reveal common threads for achieving successful transitions for adults with SWS. Gloria Whitman and her son Rob, who is 46, live in central PA. They attended the SWF Conference in Hershey, PA in 2005 where Rob was able to meet other young adults. She started to think about a group home for Rob after he graduated from school. He was able to go into an apartment with a friend as a roommate about six years ago. That was in Hershey, PA and the agency was Community Interaction in Swarthmore, PA. They provided 24-hour care. Then last year her daughter bought a home two blocks from her home. She asked if they would consider moving Rob to his own house as he was too confined in this apartment and he wanted to move back to their town. InVisions Human Services, an agency out of Reading PA is providing 24-hour care. Because Rob still has a risk of seizures and has a balance problem, he uses an ambulation gait belt. His vision is diminishing because of 12

glaucoma even after many surgeries. Rob lives alone and loves sitting on his front porch and being near his sisters. He has a waiver from the county, although these may not still be available in PA. He does pay rent to InVisions and they set the cost. InVisions works with people who have challenging disabilities. He moved into his new home last November. Gloria visits him often. Rob has always made his own donations to the SWF by sending us a check from his account, which Gloria supervises. Rob also spends a few days a week at Hope Springs Farm in Hummelstown. This is an adult day care facility that is a small farm with animals and small garden plots where the participants - called Growers – can do planting, harvesting, animal care, crafts, cooking and socializing. More information can be found at HopeSpringsFarm.org. Mom Gloria says Rob is the best weed picker they have! He also enjoys feeding the animals, gathering eggs, helping to bake in the kitchen. He must use a wheelchair when at the farm because of his balance situation. At one time Gloria even worked there with the other parents to help out. Nina and Don Weber in Alexandria, VA have always advocated for and supported their daughter Cynthia, who will be 57 in October. Nina reports that Cynthia has been fairly healthy these many years and sees a group of 7 doctors regularly. She has had basal cell and squamous cell precancers on her face which were treated with no problems. One lesion was on the port wine area and the other was not. She has not been sexually active but gets her Pap tests every two years and mammogram yearly. For the past 3 years she has been getting nerve blocks on her lower back, perhaps because of a mild case of scoliosis and a history of some bad falls over the years. This spring she had a fall which brought her home on a walker and lots of PT. The Sturge-Weber Foundation

Her glaucoma pressure has been running at 48-52 for years now but with no pain and taking medicine for that. She also takes extra Vitamin D and calcium for osteoporosis. She has also been on hypertension and cholesterol medications for quite a few years and has to avoid salt because of edema in her legs.

local library across the street from their apartment. Cynthia has also been a Eucharistic Minister at their church for the past 9 years; Bob is an usher.

Cynthia started working in the summer after her junior year in high school, in the mail Cynthia and Bob room in a US government facility. She started as a mail clerk, working up to a GS 6 level, knowing how to work all the machines and delivering mail to a 13-story building. She retired after 38 years.

Because neither of them drive, Nina hooked Bob with doctors all within a 5-mile radius so he can take a taxi to his appointments. She still takes Cynthia to her appointments. Nina and Don are so proud of their accomplishments - as typical parents always are.

The Webers and Bob Tidler’s family had been friends for a several years. When Bob’s mother died 9 years ago, they began to include him as part of their family. Bob and Cynthia moved into a 2-bedroom furnished apartment near them, that is also within walking distance of a small mall that has a variety of businesses like grocery, bank, post office and doctor’s offices - anything they would need. Cynthia did all the research on her own before she told her parents ! After a 3 month trial, they set up housekeeping, sharing everything down the middle, rent, utilities and food. Cynthia and Bob are both retired government employees having worked 38 years each. Both volunteer at the Fairfax House, a home for military seniors. Bob volunteers at the September/October 2018

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SWF Featured Article s

Growing

GOLDEN WITH SWS

SWF Information and Research s

YOU ARE NEVER TOO OLD FOR PORT WINE BIRTHMARK TREATMENT

Kristen M. Kelly. MD,Professor of Dermatology and Surgery, U.C. Irvine Dr. Kelly is an SWF consultant and member of the CCN and SWFIRN I have patients with port wine birthmarks who range in age from a few weeks to 97 years old. All ages of patients with port wine birthmarks can be treated. It is ideal for treatment to begin early in life. We think this is because blood vessels in the skin are often a better size for treatment in those less than a year old and because these patients have less melanin or skin pigment to block the laser light from reaching the blood vessels. Infants also have an extra pigment (hemoglobin F) that can be targeted by the laser light. Laser treatments are more difficult in darker skinned patients as the melanin blocks the light from the blood vessels. However, I have many patients of Hispanic background and some who are African-American. Each individual case should be discussed with an experienced laser surgeon and best options considered. While treatment may be optimal at a young age, patients of all ages can get improvement in their port wine birthmark with laser treatment. Teens 14

Kristen M. Kelly. M.D., Professor of Dermatology and Surgery, UC, Irvine and adults going for treatment might have some different concerns as compared to young patients. Patients of any age should be able to ask their treating physicians questions they have about treatment. Some example of questions might be:

other devices such as the long pulsed 532 nm laser that can be used and intense pulsed light. For patients with thicker port wine birthmarks or those with nodules (bumps in the birthmark), a long pulsed alexandrite laser might be used.

What kind of side effects should I expect? Most patients will experience bruising and swelling. The type of effect will depend on the device used and the settings.

What kind of cooling or skin protection will you be using during the treatment? In order to get the light down to the blood vessels of the birthmark, there needs to be a way to protect the surface of the skin. Most devices use a type of cooling: cryogen spray cooling (very short millisecond spray of a coolant that evaporates immediately), contact cooing (cool plate used during the treatment) or air cooling.

What should I use after treatment to heal and get the best result? After treatment, ice can be helpful to minimize swelling and decrease discomfort. If there are any scabs or blisters, plain petroleum jelly can be applied to these areas. You should let your physician know if you have scabs or blisters. Sun protection is important to minimize any discoloration after treatment and prepare for the next treatment. If is best to avoid aspirin or non-steroid anti-inflammatory medications like ibuprofen after the treatment because these can minimize the treatment effect.

What options are there to help with discomfort during the treatment? The cooling described above will help with treatment discomfort. However, sometimes, especially if large areas are treated, patients may want additional options to help with disc comfort. Options can include a pain medication that is applied or injected prior to the treatment into the birthmark or a pill or injection which diminishes pain.

The SWF Clinical Care Network is here for you providing safe, comprehensive, specialized treatment for SWS patients and other Birthmark conditions.

What device will you be using? A pulsed dye laser is a commonly used device for treatment but there are The Sturge-Weber Foundation

There are many other questions that a patient having treatment may want to ask. All patients should feel comfortable asking their treating physician questions both before and after the treatment so they can be confident and comfortable with the treatment plan.

September/October 2018

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SWF Information and Research s

(called rhodopsin). When you’re scared and there’s an adrenaline rush, the adrenaline goes to a different GPCR. In endothelial cells there’s a receptor for endothelin, a substance that leads to blood vessel constriction.

SPOTLIGHT ON RESEARCH

But what happens then? Each receptor has two great features. (1) Each receptor is very specific for some substance it detects. (2) Each receptor that binds some substance then lets the cell know to “do something!”

Dr. Jonathan Pevsner SWF Chief Scientific Officer

Pathways: What Does it Mean for GNAQ to be Turned on in Sturge-Weber Syndrome? In the previous issue of Branching Out, I told you what a gene is; GNAQ is an example of a gene. The gene makes a protein called GNAQ and I introduced that in Topic 2. I mentioned that the mutation in the GNAQ gene makes a slightly changed GNAQ protein in which one of its amino acids is changed: the R at position 183 becomes a Q. The result is that GNAQ becomes slightly turned on, or activated. And that’s what somehow leads to both port-wine birthmarks and to Sturge-Weber syndrome. In this topic I’d like to tell you what it means for GNAQ to be turned on. To do that we’ll look inside a cell. Looking at G Proteins A cell is a basic unit of the body: there are endothelial cells, neurons, melanocytes, hepatocytes, sperm, eggs, and hundreds more types.

Do what? Open a gate to let other things into the cell. Make a brain cell “fire.” Close a blood vessel. Tell a muscle cell to contract. Tell the nucleus to turn some genes on or off. Active and Inactive GNAQ After the receptor binds something the very next step involves our G proteins such as GNAQ. As the picture above shows, GNAQ starts in an inactive state (see where it says “GDP inactive” and upon receptor binding it switches over to an active state (GTP active; see the part circled in red on the diagram). That active GNAQ starts a cascade of effects. Several different pathways are turned on. Each pathway is a set of proteins that turn on other proteins, leading to some final effect. Why is the cell doing this? One reason is amplification. A small amount of signal (say, endothelin) can come to the cell, and a receptor can bind it (grab it) and become activated. Then the G protein such as GNAQ can get activated, but many, many copies of GNAQ can respond, offering tremendous amplification of the signal. If all this sounds complicated, all I can say is, a cell’s job is complicated. Each cell in your body has about 10,000 or more proteins, and they all have jobs to do.

One thing cells have in common is that they’re each like a little factory with a power station (the mitochondria), a waste disposal system (the lysosome), transport systems, a structure that keeps things together (the cytoskeleton) and ways of producing things (enzymes).

What’s your proof? When we reported (in 2013) that GNAQ mutations cause Sturge-Weber syndrome, our paper included work by Dr. Doug Marchuk showing that the GNAQ mutation (R183Q) was slightly activating. Dr. Marchuk’s lab introduced “normal” GNAQ and “mutant” GNAQ into cells. I’ve put a green circle around ERK, one of the proteins “downstream” of GNAQ. If GNAQ is activated then we might expect to see more of an activated form of ERK. And we did see that.

Another things cells have in common is that they need to communicate with other cells to take in information. They do this using receptors on the cell surface. Here’s a cartoon picture of a cell.

How are pathways significant? We believe that it’s very important to understand the pathways that GNAQ is part of. The main idea is that GNAQ is activated because of a GNAQ mutation, and that GNAQ activation turns on signaling pathways that would ordinarily be quiet. One idea to treat Sturge-Weber syndrome is to quiet GNAQ itself. A different idea is to quiet the signaling pathways that have been turned on. As a research community we are searching for drugs that can do this.

I’ve put a big red circle around GNAQ. Right above it is GPCR (that stands for G protein coupled receptor), and it’s an example of a receptor on a cell’s surface. It extends outside the cell where it can receive signals. When you smell an odor, that odor binds to a GPCR. When you see something, light reaches a special GPCR 16

SWF Community News s

For additional articles from Dr. Jonathan Pevsner, visit sturge-weber.org under “For Patients” in the “Spotlight on Research” section. The Sturge-Weber Foundation

September/October 2018

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SWF Community News s

SWF Community News s charities have already been selected for the 2018-2019 year but we hope to be selected one year!

BETTER TOGETHER

Mr. Folse was truly interested in Beau and Carley’s story. He could not have been nicer. We are so grateful that he took time out of his day to meet with us.

Catching Up With the SWF Family

Born Different For A Reason Meet Tyler Henrie

Just One Spark Is All It Takes

Tyler Henrie turned 18 this year and he had one wish. Tyler wanted a tattoo! He had been planning the design of his first tattoo since he was 15 years old.

by Witney Arch

Mr. Trey Folse is the Superintendent of the St. Tammany Parish schools and he has a Port Wine Stain like Beau. A fellow Sturge Weber Mama, Crystal Elliers, is a elementary teacher in Slidell, LA. She emailed Mr. Folse and told her about her daughter, Carley and Beau. Carley does not have a Port Wine Stain but she does have Sturge-Weber. Her brain is affected and she has seizures. Our goal is to bring awareness of Sturge-Weber and birthmarks to the entire district and the people living in our communities. Sturge-Weber is rare. Beau is the 1st baby born with it in this area. Carley was diagnosed at age 3 and is now 17 years old. The Sturge-Weber spectrum is vast and our two children are living very full lives. This is sadly not the case for many others. Crystal and I both have a sense of “survivors guilt” so we pour our passion into spreading awareness and trying to raise money for research.

Baby Beau. Many of the kids in her class knew Beau since he was at school a lot so when they saw Mr. Folse they knew exactly what he had on his face. Mr. Folse’s message to the kids was a great one. “People may look different than you and act different than you but just be nice.”

Of course we fear that Beau may one day be picked on and maybe even bullied for his facial difference. Thankfully we live in a very welcoming and compassionate Mr. Folse had never heard of community but not everyone in the Sturge-Weber until he read our stories. world is nice. If we can raise awareness He does, however, know what it’s like about birthmarks and Sturge-Weber, to live with a facial birthmark. more people will be understanding. Last year on the first day of school he went to my friends classroom at Mandeville Elementary. Before he came in, Noelle Anderson told her students that Mr. Folse had a birthmark like 18

This year his wish came true. His design became permanent. The tattoo has a circle made of a celtic knot to honor his Irish heritage. Inside the circle is the SWF tree. The words he selected-

Tyler’s mom says, “He has faced many obstacles in his life and he never falters. He is compassionate, hard working and value driven.” Tyler plays the drums and is a chief in his ROTC unit. His strength and outlook on life are inspiraltional to all of us!

What’s Webster Up To? Webster went to see the CA Angels play ball with Jayden and Michelle Robbins Findlater.. A man a few rows ahead asked the usher for a ball for Jayden. The ball was used in the bullpen for warm ups. Summer Andrews has some “summer” playtime with Webster.

were, “People are born different for a reason”. Tyler lives his life by these words as well as by “the stronger the wind, the tougher the trees”.

Celine Brewbaker and Webster at the doctor’s for a check up!

And if we can do a district wide fundraiser we can really propel the research that is being done on behalf of our kids and everyone else with Sturge-Weber. That is our goal. The The Sturge-Weber Foundation

September/October 2018

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SWF Fundraising s

SWF Community News s • • • •

SWF TASK FORCE Members Announced! We would like to congratulate all the members of our newly formed Task Forces. Together with the Patient Engage Network (PEN) we will begin to work on special projects in each Task Force! • Education Task Force led by Witney Arch with members Shelly Rauschuber, Deborah Brewbaker, Mina Mijailovic • Growing Golden Task Force led by Jeffrey Needham with members Gloria Gomez, Anne Howard • Growing Up Task Force led by Michelle Daoust with members Emily Argersinger, Gabrielle • Bartolone • Surgery Task Force led by • Can-dice Roberts with members Jillian Barnes, Donna Tilley • Before Their Time Task Force led by Donna Meurin with • member J. Wood • Mental Health Programs for Younger Group Task Force led by Donnie Hood with members Emily Argersinger, Josephine Suarez • Mental Health Program for Transitions Years Task Force led by Kimberly Slater with members Donnie Hood, Gabrielle Bar tolone • Mental Health Program for Adults Task Force led by Jillian Barnes with member Dan Innes • Inspire Task Force led by Kellie Sadens

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Nutrition and Complimentary Medicine Task Force led by Stephanie Tikkanen Grandparents and Careperson Task Force led by Annette Coutu with member Elizabeth Andrews Family Day Task Force led by Witney Arch and Kellie Sadens Advocacy Task Force led by Davis Argersinger with member Madhu Paturi

Congratulations to all of you! We are looking forward to great things. If you would like to get involve, there is still time to do so by applying at https://sturge-weber.org/participate/

Meet Curt Stanton, New SWF Board Member We are pleased to announce the election of Curt Stanton to the Board of Directors. Curt Stanton graduated from DePauw University in Greencastle, IN with a BA in Economics in 1984. Immediatly after college, he began a real estate career and spent 32 years at Paine/Wetzel Associates in Chicago, Illinois where he became a partner. In March 2017,

EAT and FUND! You’ve heard of the phrase “eat and run”, well now you can “eat and fund”!

GroupRaise is a new fundraising platform that lists restaurants in your area that will give back to non-profit organizations if you plan a dinner at their location. They have over 6,000 participating restaurants. It’s easy to use, there is a great selection and they do most of the planning, you just book the date! Check it out and see if you favorite restaurant is listed and plan to “eat and fund” with your friends and family for a great cause!

Gift Matching Gold Mine Every dollar that SWF receives from its donors is a gift of dymanic support and impact for patients and families.

Company Gift Matching is a program that some employers offer to their employees for charitable donations. When you make a donation and report it to your employer throught their matching gift program, they will also make a contribution based on a certain percentage of your donation, some event donate 1:1. That’s it, no strings attached. This makes your dollars go even further. To find out more about Company Gift Matching Programs, contact your Human Resources department and ask them if they have a program and how to sign up. If not, maybe you can get one started! Ask your friends who donate to check their employer’s policy on Gift Matching too. Let’s give every dollar a one-two punch for impact!

Webster on Raising Awareness

Curt started the Axiom Advisory Group to focus on Global Corporate Services Consulting. In addition to his real estate business, he is a managing member of Stanton Family Orchards, which is a 200 plus acre cherry farm in Leelanau County, Michigan. The orchard has been in the Stanton family for 3 generations.

Your story is the most important part of raising awareness for SWS. Your story is the heart and soul of why the Foundation exists. Your story provides the “eyes and ears” into the life of the patient and caregiver. It connects you to the hearts of the public in a profound and impactful way!

Curt is married to Pamela, and they have three children, Rebecca (SWS), John and Lauren. Together, Curt and his family support SWF and continue to build awareness for SWS and other birthmark conditions. The Sturge-Weber Foundation

Did you know that your dollars can be even more impactful through Company Gift Matching Programs?

September/October 2018

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SWF Special Event s

Don’t miss the greatest show on earth! The 17th Annual Reunion of Champions

benefiting SWS/Birthmark Patients and Critical Research Sponsorship details and online registration coming soon at www.sturge-weber.org 22

The Sturge-Weber Foundation

Branching Out - 2018 September/October  
Branching Out - 2018 September/October