the cfc chronicle - cfc...

The CFC Chronicle

Caring, Facilitating & Connecting

To improve the quality of life through family support, research and education.

Volume XIX Number I May 2016

CFC International Partners with Patient Crossroads to Launch Patient Registry!

On March 11, 2016, CFC International launched the

official world wide CFC Registry with Patient Crossroads. The CFC Registry is a centralized resource that is vital to helping researchers learn more about CFC syndrome, accelerating the development of new research and treatments, identifying issues that need research, and improving the care of all those with CFC syndrome.

The CFC Registry empowers every person who has CFC

syndrome and family members around the world to make a difference in the fight to conquer CFC syndrome and establish treatments. By participating in the CFC Registry and completing your profile survey about your own unique experience with CFC syndrome, you are contributing to a global database about the accessibility of diagnosis, care and treatments, and disease severity of CFC syndrome. Families who have lost a child are also important so that researchers can learn more about the causes of death within the CFC population. Please consider enrolling your child’s data along with cause of death.

Patient Registries are essential for conducting clinical trials. The development of a Registry positions the CFC community to work with scientists to test potential treatments more rapidly.

David A. Stevenson, Medical Genetics, Stanford University, CA The CFC Registry recognizes the importance of global

collaboration. One of the goals of the registry is to enable researchers from around the world to work together to speed research progress. The CFC Registry connects all those interested in accelerating CFC syndrome research – affected individuals, families and researchers – with a resource that has never before been available in one place.

Collecting information from CFC syndrome patients is

very important, but protecting the privacy of people affected

by CFC is also extremely important. In order to protect your privacy, Patient Crossroads (the company that designed the registry software) has designed many safeguards. Each individual’s information will be “de-identified” so no one who looks at the data can identify you or your child. Your child’s information will be assigned a code. If a researcher is interested in learning more about your child, the researcher will ask the Patient Crossroads/CFC genetic counselor to contact you. A scientist will not be able to receive any identifying information about your child unless you give explicit consent for your child’s identity to be released to that researcher. To enroll and learn more about the Cardio-Facio-Cutaneous Registry go to: https://connect.patientcrossroads.org/?org=cfc

One of the single most important contributions an individual can make to Cardio-Facio-Cutaneous syndrome research is to participate in the Global CFC International Registry.

Brenda Conger, Executive Director, CFC International

In this Edition: Message from the Executive Director 2Donations 3Celebrating Caleb 4News from Brazil 5CFC International Employment Opportunity 7TOMMY HILFIGER Launches first-ever adaptive designer clothing line for children with disabilities 8CFC International Welcomes New Board Member 9Wings for Autism® 9What Facebook Means to Special Needs Families 10Virginia Parent and Daughter Represent CFC International at Medical Conference 11

of 12 THE CFC CHRONICLE: May 2016

Message from the Executive Director

This Spring has been an extremely busy and productive time for CFC International. Our global Registry was launched and we already have 63 families enrolled. This is the first step toward the future involving any clinical trials and potential treatments. We would love for each and every one of you to jump on board and participate. This includes families that do not have a confirmed gene mutation for their child as well as families who have lost their CFC child.

Our board of directors had their annual face to face planning meeting in May and this brought many changes including the newly launched eTapestry data management system that we recently purchased. We were running so many different databases that were getting harder and harder to manage. No more “digging” for information or guessing where it came from. With this new program and the upcoming retirement of our dedicated organization treasurer, we are now looking for a volunteer who has accounting skills and can manage our QuickBooks account. Training will be provided along with a transition period before the current treasurer formally steps away.

Another area of our organization that keeps growing is the addition of our new families who reach out to us upon receiving a CFC diagnosis. We are looking to find parents who would like to be contacted via email when new families register with our organization. Your photo and biography would be up on our newly designed

website so that families in our region would be able to reach out to you if they wished. You could then set up a time to speak with the new family if they wish to do this.

If you are interested then please contact me at: [email protected] to set up an interview for this role.

Brenda Conger

CFC International

Executive Director: Brenda Conger, Vestal, New York President: Jennifer Iacobelli, St. James, New York Vice President: Molly Santa Cruz, Arroyo Grande, California Treasurer: Kayla Stein, West Bloomfield, Michigan Secretary: Shelly Greenhaw, Edmond, Oklahoma Board of Directors: Cara Borian, Sinking Springs, Pennsylvania Luba Djurdjinovic, Binghamton, New York Pilar Magoulas, Houston, Texas Les Rogers, Roseburg, Oregon Newsletter Editor: Peter Hoedjes, The Netherlands CFC International 183 Brown Road Vestal, NY 13850 USA (607) 772-9666 E-mail: [email protected] Web page: http://www.cfcsyndrome.org

We offer information, support, newsletters, an address directory, brochure and Parent’s Guide. Our mission is to assist those whose lives are touched by CFC Syndrome and to improve lives through family support, research and education. The group is self-funded. Contributions are gratefully accepted and will help the next family to receive information about CFC Syndrome.

CFC International and any associated parties will not be held responsible for any actions readers take based on their interpretation of published or disseminated materials. Please review medical treatments and decisions with your own physician.

Medical Advisory Board Bruce Gelb, M.D. Icahn School of Medicine, Mount Sinai, NY Maria Ines Kavamura, M.D. Universidade Federal de Sao Paulo ~ Brazil Jacqueline Noonan, M.D. Retired Pediatric Cardiologist, Univ. of Kentucky, KY Mary Ella Pierpont, M.D. University of Minnesota, Minneapolis, MN Katherine Rauen, M.D. University of California, Davis, Davis, CA Amy Roberts, M.D. Children’s Hospital, Boston, MA Suma Shankar, M.D. Emory University, Atlanta GA David Stevenson, M.D. Stanford University, Stanford, CA


Donations

Donations in Honor of: Megan Ankeny Gerald Madison Nancy Patton Gabrielle Barile Gennaro & MaryAnn Barile Leah Borian Paul Borian Peter & Cara Borian Walter & Maura Ritchie Kate Brockwell Anonymous Marc Anderson Rodolfo Bosenberg Matthew Brockwell Michael Butt William and Cathryn Corey Thomas Cosgrove James Dawson Jr William Lewis Kristine Lindsey Christopher Morgan Joanne Shea Elizabeth Snyder Keith Stolzenburg Nicole Stroud Michael & Kate Sutphin Peter Raymond Norma Tiller Yindong Yu Bradley Burleson Alan Weldon Hailey Chapman LuLaRoe by the Holt Girls Mindy White Erica Cheat LLR Inc Clifford Conger Daniel D’Imperio Daniel & Karen Gates Robert & Beth Kaufman Wayne & Darla Kunsman Emmett Dyer Joanne Clarie Candace Dyer Hank Hine & Laura Tillinghast Lynn Heckler Patrick and Christine Kirchner Kathryn & Jason Kislak Jeremy Mele

Ashley Nall David & Alexis Novak Catrina Robbins-Muniz James & Anna june Schug Todd Smith, Winesmith Susie Wheldon, Dan Wheldon Foundation Inc. Alec Farmer Doug & Toni Farmer Herman & Beulah Farmer Todd & Kelly Vance Lucas Green James & Lorraine Hallock Veronica Lamb Caden Hartmann Shelle Hartmann Daniel Hess Amy Hess Mary Hess Robert Olsen Family Foundation Amanda Holland Fred & Karen Holland Nola Iacobelli Marie Murphy Karen Walsh Stecker, The Estee Lauder Companies Cami Kline Arthur & Patricia Rachel Ann Kutzler David & Mary Kutzler Lindsay Levenhagen Tom & Laurie Levenhagen Sandra Rafferty Chris Andrew Miller Rogers Grain Kasi Hawkins-Rivers Freya Rivers Glo Rogers Leslie & Jennifer Rogers Les Rogers Patricia Stiles Susan Stiles-Sumstine Aaron Rose David & Catherine Rose Emily Santa Cruz Judy Devine Patricia Knotts Maureen McGee Brennan Skipper Nancey Skipper

Georgia Stiles Leslie & Jennifer Rogers Jared Stowell Marilee Stowell Ashley Thompson Judith Thompson Rachael Velmer William Edwards Jackson Waddell Gail Shacket Danny Warner Great Lakes Rental LLC Meg Young Shaun & Terri Briggs Zoe Cynthia Vranesevic In Memory of: Owen Burke Julie Brisbin Ava Greenberg Mary O’Neill Sidney Jones Noah & Ashley Jones Elizabeth Ann Paschall Rebecca & Bob Politzer Stephanie Kohler Scholarship Fund Glenn Brady Richard & Bridget Davis Joseph Howard Dawn Kink Mitchell Kohler Yuanjin Liu Michael Mason Davina Ramasamy Larry Rubin Helen Schmit Atilio Zardetto Phil Zinn General Donations: Matthew Adams Shelly & Stephen Allen Steven Baker Raymond Beier Therese Bobek Richard Borkowski Jeffrey Boyle

Christine Browning Community Foundation of Middle TN Christopher Cook Stacy DeNoyior Donald L. Dillingham Luba Djurdjinovic Joseph Donnelly Christopher Engstrom Charmel Gilbert Robert Gittings James Goodridge Shelly Greenhaw Daniel Harrison Frank Hauser Chelsea Daniels Hendrickson Edith Holt Susan Hopkins Sarah Hudson John Karren Patrick Kennedy Renee Khatami Jason Lee Kristine Lindsey Pilar Magoulas Nirmal V Manerikar Elizabeth K McCarthy Patrick McNamee Randy K Moore Javier Perez Navarrete Jonathan Orkin Erika Pinter Niranjan Ravindran Alissa Repanshek John Reville Katie Roach Santa Sasena Kerri D Sears Karl Sening Kathleen Shepard Charlotte Stiles Michael Stork Nicole Stroud Katie Sylvis Michael Swartz Matthew Vilasi Isabella Wesley Loretta Zalansky

Thank you! CFC International is grateful to its supporters for their generosity.

We extend our deepest thanks to the contributors listed below for their kind donations.


Thirteen Years of Successful Chili Bowls

Thank you for another great year. The 2016 CFC Chili

Bowl was a huge success and we appreciate your support. You helped raise just over $15,000 for CFC International this year and with your support over the years we have raised about $135,000 in total!

The tone was set for the night by the amazing Angie

Haze. She is such a talented artist and her original music created the perfect atmosphere for a wonderful evening. There was a lot going on: 145 silent auction items, 50 table raffle items, five $10 raffle items and four 50/50 boards. You were one of 300 friends and family that packed Rustic Hills Country Club, 38 of you brought your best chili recipes along with two of our favorite restaurants. It was a tough competition and the winners were deserving of all the accolades. Congratulations to Lockview on its repeat 1st Place win in the Restaurant Division. The Crockpot Division winners were all first time winners: in 1st Place – Shelley Senko, 2nd Place – Candy Magrum and 3rd Place – Stan Pavilonis.

We had such great

help. Karen Salmoni baked up a storm and provided you with some delicious desserts. Shelley Senko, first place chili winner who is a baker by day, thanks for bringing my favorite petit fours and other Elmwood Bakery treats! So many others of you brought sweet treats to share, thank you! Jim Salmoni and Jim Scoby did a great job with the 50/50 boards.

Michelle and John Hubbard, Joy and Olivia Burt and Rosemarie Pavilonis were awesome at the check in/out tables. Our CFC family, the Goedel’s, really did a bulk of the work. They have some awesome friends and family that helped immensely, Debbie Himes, you are truly amazing. Our CFC family from all over the country supported us by

sending silent auction items and attending the event. We had families from Tennessee, New York, Chicago, Michigan and all over Ohio. There were 13 kids with CFC there, including a set of identical twins. Bonnie and Mike Lane did a great job creating so many interesting silent auction baskets. Laura Rorhbaugh, Karen Salmoni and Danielle Goedel, you did such an amazing job setting up Saturday morning! Thanks Jim Shields for continuing to sponsor the evening’s beer and Jim and Karin Bussman for always being our biggest sponsor. Tim, Madison, Jack, Sally and Marty you are the best! Many others helped too, and we appreciate each and every one of you.

After 13 years of chili we are going to retire. It has been

a great run and again we appreciate all of your support. You know, we truly could not have done any of it without you. Thanks again!!

Gratefully, The Doyle Family Medina, Ohio

Celebrating Caleb It was a little over 20 years ago. Two young kids were

excited to be having a kid of their own; their first one. Alice and I walked into the room to get our first ultrasound. We were so excited. We would actually get to see our baby. We would find out if it was a boy or girl. We didn’t care what the gender was, just so long as he or she was healthy.

Bryce Goedel & Jack Doyle

Goedel family and supporters


The conversation with the ultrasound technician was

light hearted at first. We were just so giddy. We learned that we would be having a boy. We saw his hands and feet and his beating heart. We were amazed at how God had created this little person. But then the technician turned quiet. She had a concerned look on her face. She said that she would be bringing in the doctor to take a look at some things.

The doctor came in and finished the ultrasound. He said

very little. After he was done, he had us step into another room. We weren’t sure what was going one. Is this the way ultrasounds are normally done? We didn’t have a clue.

The doctor came into the little room and said that there

was something seriously wrong with the baby. He probably wouldn’t make it full-term. He then asked if we wanted to continue the pregnancy. What?!? Our world had just suddenly turned upside down. He said in this situation, most parents choose to end the pregnancy. So here we were… a few minutes ago, we met our first child. He was a boy. He had two hands and two feet. We saw his beating heart. And now we were being asked if we wanted to end our unnamed son’s life. Alice and I looked and each other and told the doctor this was not an option.

The pregnancy was very difficult for Alice. There were many more ultrasounds, many hospital visits, bed rest, and steroid shots. Our baby came early. We named him Caleb because he had a different spirit. Right from the beginning Caleb baffled the doctors. They knew something was wrong, but they weren’t quite sure what it was. It was sometime later that the doctors had their diagnosis. Caleb has CardioFacioCutaneous (CFC) Syndrome, a rare genetic condition. At the time Caleb was born, there were less than

100 known cases of CFC Syndrome. Today, there are more than 500 cases worldwide.

Over the years, Caleb has had many challenges. We’ve

seen the hospital room more times than we care to remember. He has visits to many different doctors throughout the year. Through it all, Caleb has persevered. He has never once complained. He always has a smile on his face. He’s always quick to talk to you about fish, dolphins, whales, or dinosaurs.

In 2015, he accomplished a major milestone; he

graduated from high school. The baby that we were told shouldn’t be born, completed 12 years of schooling. I thank God for the miracle that Caleb is. I thank God for the countless medical personnel who have cared for Caleb. I thank God for all the teachers and assistants in his life that didn’t give up. While he has learned a lot and accomplished much, I think it’s me that has learned more from him. He has softened my heart and taught me compassion. He has taught me perseverance and determination. He has taught me how to be joyful at all times and grateful in all situations. As he walked across the stage to receive his diploma, I thought back to that turning point 19 years ago in that doctor’s office. We didn’t know what the future held. But God did. Because of the decision we made, we have this amazing young man. My life is richer, sweeter, and more blessed because of him.

Now that Caleb’s formal education is complete, we are

again faced with an uncertain future. What will adulthood look like for Caleb? We don’t know. But God does. And I know that it will be richer, and sweeter and more blessed because Caleb is in it.

Caleb, your mother and I are so proud of you. We love

you very much. Sunny Thomas Edmond, Oklahoma

News from Brazil Brazil has a significant number of CFC patients that have

been followed for many years due to historical reasons. Simultaneously with the initial descriptions of CFC patients in medical papers in the 1980's, Prof. Decio Brunoni, from the Federal University of Sao Paulo (UNIFESP), also presented CFC patients at the Brazilian Meeting of Genetics,

Caleb and Alice Thomas


Jasper William Streppel March 29, 2007 – January 16, 2016

as a new syndrome. From there on, many dozens of CFC children were diagnosed and followed in the Genetic Centers of many capitals in the country. In the early 1990's, Prof. Debora Bertola, from the University of Sao Paulo, wrote a thesis on Noonan syndrome and since then heads a service for Noonan syndrome patients together with other medical specialists with special interest in Rasopathies.

The creation of a family support group for Noonan,

Costello and CFC syndromes has been a dream for many years both from the families and doctors sides and we are happy to announce that our dream started to turn into reality. Prof. Luis Alonso, head of the Anatomy and Genetics Department of UNIFESP hosted the first meeting on Rasopathies with emphasis on Noonan, Costello and CFC syndromes on 01/29/16. We invited specialists with experience on the field (geneticists, cardiologist, neurologist, endocrinologist, dermatologist, ophthalmologist, president of another support group, and Prof. Neri) that presented speeches directed to families, medical students, residents and medical professionals in general. Many families traveled long distances to attend this meeting, so the families met again on 01/30/16 to start working on the establishment of an official entity to be the family support group for Noonan, Costello and CFC syndromes, named “CNC Brasil”.

Around 50 families were in Sao Paulo for these meetings. Having met so many families with so much in common was a priceless experience for all participants. These meetings were surely the first of many and the impact of putting so many energized people together is already showing results. A work group to study behavior is already set up and in action. Families that traveled from other states are already gathering with other local families, sharing experiences and information. Also, a group is working on setting up “CNC Brasil” as an official non-profit organization in Brazil.

We thank CFC International for the pioneer work on

CFC support groups. Surely many lessons were learnt in organizational aspects, but more importantly in the enthusiasm and importance of being together, learning with each other and advocating for patients and families.

Dr. Maria-Ines Kavamura Member of CFC International Medical Advisory Board

I Miss Your Laughter

I miss your laughter, fun, and gentleness. I miss the things I used to do for you.

I miss the time, now filled with emptiness, When each day was a stage for something

new. I miss your love, though mine for you

remains, A passion with no outlet to the sea, A teardrop in a desert, that contains

What's left of my maternal ecstasy. I miss your presence, like a silent chord That anchored even solitude in grace. I miss, for my love's labor, the reward

Of seeing some small pleasure in your face. All these I miss, and yet they are all here Within my heart, far more than I can bear.

Nicholas Gordon

Brazil CFC, Costello & Noonan families


CFC International Employment Opportunity

CFC International, Inc., a growing not-for-profit serving families who have individuals born with Cardio-Facio-Cutaneous syndrome, seeks a part-time Executive Director. At the 2017 Texas conference, current Executive Director, Brenda Conger will be retiring after 19 years of service.

CFC International's mission: Improving the quality of life through family support, research, and education. Job Summary: The Executive Director is responsible for ensuring CFC International's financial growth, program development, strategic planning and day-to-day management. The Executive Director works closely with the Board of Directors, medical community, staff and volunteers in accomplishing these goals. The position has a flexible schedule and may be performed from a home office (telecommute). Position Responsibilities:

§ Ensures that CFC International is in compliance with all federal, state and local laws and regulations. § Implementation and oversight of fundraising, program activities and administration. § Explore and develop new sources of income for CFC International. § Provide direction, oversight, and management of CFC International’s relationships with the medical

community and partner organizations to foster research and information sharing with the goal of improving quality of life for individuals born with CFC and their families.

§ Plan the biannual CFC International conference, including location, topic and speaker selection, budget adherence, and collaboration with conference planners from partner organizations.

§ Build positive relationships with the media. Represent the organization by participating in key associations (conferences), serving on committees and advisory groups, and speaking in public settings to represent CFC International.

§ In concert with the organization’s strategic plan, coordinate and manage program activities including website updates and revisions of literature. Develop and promote new programs that enhance CFC International's visibility. Manage volunteer activities.

§ In conjunction with the Board of Directors and Treasurer, prepare and administer the annual budget. Review and approve all expenditures and ensure that CFC International's financial affairs and records are administered and maintained in accordance with government standards for the non-profit sector.

Qualifications Required:

§ Outstanding leadership, interpersonal and team building skills. § Experience building positive relationships with government, medical providers, business leaders and media. § Ability to assume independent responsibility, take initiative, and manage numerous responsibilities

simultaneously with energy and passion. § Excellent oral and written communication skills; ability to communicate organization’s mission to diverse

constituencies. § Philanthropic development and financial management skills a plus.

Reports to: CFC International Board of Directors

Time Commitment: Variable, 20 hours per week average with increased hours during biannual conference planning. Day-to-day schedule is flexible and task-oriented with regular meetings but no set hours required. Location: Virtual/Telecommute. Location of home office is currently New York State but location may be flexible.

CFC International is an Equal Opportunity Employer. To apply please send resume to [email protected]


~~ Join us in Sugar Land, Texas for the 9th International Conference~~

June 28 – July 1, 2017

Marriott Sugar Land Town Square Sugar Land, Texas

Like us on Facebook https://www.facebook.com/CFCSyndrome/

to stay posted on conference details along with our new incentive program to obtain free admission to the conference!

TOMMY HILFIGER Launches first-ever adaptive designer clothing line for children with disabilities The collaboration with Runway of Dreams is available now. Maria Bobila, February 23, 2016 FASHIONISTA

When Mindy Scheier, a mother of three, learned that her middle son Oliver wanted a pair of jeans, she was forced to make a decision on whether or not to tell him he can't wear what the other kids at school were wearing. Since Oliver was diagnosed with a rare case of muscular dystrophy, Scheier knew that his daily struggles to dress himself would limit his choices in clothing. Luckily, her background in fashion design — Scheier has worked for in-house labels at Saks Fifth Avenue and Bloomingdale's — and the lack of adaptive clothing on a mainstream retail level inspired her to start Runway of Dreams. "There are certainly options for adaptive clothing, but it was very medicinal, very purposeful," says Scheier. "It was yet


Les Rogers

another way to show that that demographic was different because it wasn't fashionable in any way."

The organization was founded by Scheier in 2013 and

has since been on a mission to provide more accessibility to adaptive clothing for those with disabilities. After months of research, from organizing focus groups to studying the market's offerings, Scheier took apparel from the likes of Target, Kohl's and Wal-Mart, and modified it. Buttons, zippers and hook-and-eyes were replaced with washable MagnaReady closures (which use magnets); alternate ways to get in and out of clothing were added; and waistbands, sleeve and pant lengths were made fully adjustable for those with limb differences or low muscle tone.

"Not only are these modifications possible, they fit into

the design process that's already in place," says Scheier. "I'm not recreating the wheel, we are just modifying what exists." Her next step was to partner with retailers and fashion designers who were willing to adapt their own collections for the physically disabled. And that's where Tommy Hilfiger comes in.

For spring, the American fashion brand is offering the

first designer-name adaptive collection for children, which launched in February and is available for purchase on Tommy.com. Should shoppers have a question about any of the 22 pieces for boys (sizes 4-20) and girls (sizes 4-18), Scheier has trained the Tommy Hilfiger customer service team to be fully knowledgeable of the new range, including the proper language to use when speaking about this specific demographic. The capsule collection is priced similarly to Hilfiger's original children's collection as well, ranging from $18.50 to $42.50. And if you're wondering whether this is a one-time deal by the namesake label, it's already working two seasons ahead on future children's collections.

When asked if these modifications will be applied to a

women's wear range anytime soon, Scheier mentions that Runway of Dreams is in talks with other brands and retailers. "Similar to plus-size departments, our goal is that there's an adaptive department for every brand and retailer. Our modifications are meant to be utilized in any other collection — children's women's, men's," she says. "It's an enormous department that's not serviced by the industry. There's so much opportunity."

CFC International Welcomes New Board Member

Les Rogers lives in

Roseburg, Oregon with his wife, Jennifer, and daughters Aurora and Gloria. Gloria was born in 2013 and was diagnosed at eight months old with CFC. Les is an advocate for the developmentally disabled community, and his experience growing up with a disabled adopted sister helped prepare him well for life as an advocate at the regional and state level in Oregon. Les is a

Human Development Instructor and Advisor for the TRiO program at Umpqua Community College. Les has also worked as a high school teacher, and a football coach at an early college charter school in California.

Les is passionate about informing and supporting

families affected by CFC Syndrome, Infantile Spasms/West Syndrome, and the greater developmentally disabled community. Les holds a B.A. in Economics and a Master of Public Administration Degree from California State University, Stanislaus. Les is also a credentialed teacher in both California and Oregon.

Wings for Autism® Wings for Autism®, one of The Arc’s newest national

initiatives, is an airport “rehearsal” specially designed for individuals with autism spectrum disorders, their families and aviation professionals. Originated by the Charles River Center, a local chapter of The Arc, Wings for Autism® is designed to alleviate some of the stress that families who have a child with autism experience when traveling by air. The program provides families with the opportunity to practice entering the airport, obtain boarding passes, go through security and board a plane. Wings for Autism® also gives airport, airline, Transportation Security Administration professionals and other personnel the opportunity to observe, interact and deliver their services


in a structured, learning environment. This experience is equally useful for families that have a member with other intellectual or developmental disabilities that are concerned about the ability of their family member to travel.

National expansion of Wings for Autism® is being

administered by The Arc of the United States and in the future will be available for implementation at airports throughout the country.

The success of a Wings for Autism® event is due to our

well-tested coordinator guide and technical assistance by staff members from The Arc. In addition to Chapter(s) of The Arc, several local partners are involved in the event (airport, airline and TSA personnel). Together, these partners form the Wings team and work collaboratively to design and carry out the event.

The Arc’s Wings for Autism® is sponsored in part by

The Doug Flutie, Jr. Foundation for Autism, Inc. The goal of the Flutie Foundation is to help families affected by autism to live life to the fullest. Through programs and partnerships, the foundation helps people with autism get access to care; lead more active lifestyles; and grow toward adult independence

For additional information please contact: Caitlin Davis, Program Assistant Direct: 202.617.3265 Email: [email protected]

What Facebook Means to Special Needs Families

Facebook is ubiquitous these days; every website,

article, operating system and mobile device has a way to share directly to it. It's become so popular with the adult masses that today's teenagers find it lame (which makes me feel ancient and lame, myself).

These days it's mostly a telephone and email

replacement for extended family Judy up in Michigan can see how sweet Bobby and Sally are doing without leaving the comfort of her couch.

It's a dumping ground for Instagrammed pictures of

people's kids, dinner, and anything else they happen to take a picture of that day. It's confused itself into thinking it's

Twitter, and added the ability to use hashtags. It's where people feel comfortable airing their political and religious beliefs and end up getting into comment arguments with that guy from high school they barely remember, but accepted his friend request anyway.

Yeah, Facebook is annoying. It's overused and

overexposed. But, for parents of children who have rare diseases or

disorders, special equipment, body differences, or something that makes them extra unique... it's the most precious invention, ever.

Seriously. Thank you, Mark Zuckerberg. I don't think

you actually know what Facebook means to these parents. It means never feeling alone. Learning your child has been diagnosed (finally) is

exhilarating, and absolutely terrifying, particularly when it's with something you have never heard of, and neither has anyone else.

Guess what? There's a Facebook group for that. My daughter was diagnosed with an extremely rare,

random and downright weird neurological disorder. Doctors had barely heard of it, and had never seen it. Yet, when doing research on it myself, I found a closed Facebook group of parents with similarly affected kids.

These parents shared their experiences. They shared

photos. They asked for advice, and received feedback. For the last two years that I have been a part of this group, I have watched people post their worries and concerns, as well as their happiness over their kids' triumphs.

One tiny app on my phone, and suddenly, I'm not alone.

These are people who share my fears about everything her diagnosis entails. And, now, with our second's array of medical issues, I have added four new groups in the last week, each one alleviating at least some of the anxiety I feel for what the future holds for him.

I can talk to and ask questions of people who are going

through the same things, even though they may sit in Australia. Videos, pictures, documents, surveys of symptoms; the resources are endless.


For a special needs parent, it's like being thrown a lifeline. Suddenly, there's a place you can go at 2:00 a.m., and ask for help when you're unsure whether a symptom is normal or not.

And, when you're scared for your kid, and your friends

can't understand the depth of that, having that safe place of understanding people to vent to is like finding gold.

Thanks, Mark Zuckerberg. Thanks for the lifeline. This post originally appeared in Tales From the Plastic

Crib by Rachel Engel. If you are a parent or legal guardian of a CFC child and

wish to be part of the confidential and closed CFC Facebook site, please send a message to: [email protected]

Virginia Parent and Daughter Represent CFC International at Medical Conference

On Friday April 1, 2016, Kate (CFC, age 19) and I went

to the American Medical Student Association (AMSA) conference in Arlington, VA to represent CFC International at the National Organization of Rare Diseases (NORD) booth. NORD hosted a small audience for about half an hour during which time I was asked to briefly speak about CFC syndrome and how it has affected our family. I started by explaining how individuals with CFC syndrome are affected. I shared with these future doctors what it is like to live with a rare disorder and the frustration of not having a diagnosis for the first six years of Kate’s life. I also shared how our wonderful support group and our past DNA BioBank were instrumental in finding the genes that cause CFC. I tried to truly stress how important it is for doctors to listen to their patients and families. It is the families that are most intimate with CFC syndrome and all the aspects of life with a rare condition. I emphasized how often it is we families who have to educate the medical professionals. It was nice to have the opportunity to hopefully influence these future doctors’ thinking of rare conditions.

Kate and I stayed at the conference for approximately

three hours and spoke with a few students one on one,

explaining CFC syndrome a bit more in depth. We gave them a more clinical explanation of CFC syndrome and how it affects the individual. I also shared with them that we are developing a worldwide registry to facilitate sharing information when it comes time for clinical studies. This will be a wonderful tool to expedite any future research along with potential clinical trials.

Kate and I were also asked to share some thoughts on a

video which NORD will be hosting on their website. We were asked questions regarding life with a rare condition. We gave them a lot to work with, let’s see how good they are at editing. It was a very good experience and the first time I have had Kate join me at a presentation. We appreciate the opportunity to speak to these future doctors and share our story. Who knows, we may have influenced someone to concentrate in genetics that might not have otherwise.

Laura Brockwell Vienna, VA

Only a life lived for others is a life worthwhile.

- Albert Einstein

Laura Brockwell (CFC International), Kevin O’Brien (Alport Syndrome Foundation), Mary Dunkle (NORD), Stacy Hardy (Cushings Support & Research Foundation), Elizabeth Hoey (NORD)

183 Brown Road Vestal, NY 13850

NONPROFIT ORG. US POSTAGE

PAID PERMIT # 197

BINGHAMTON, NY

RETURN SERVICE REQUESTED

Would you like to contribute to CFC International? Enclosed please find a check in the amount of $____________

Gift in Honor of ___________________________________

Gift in Memory of ___________________________________

Please make checks payable to CFC International & mail to the address above.

We are a 501(c) 3 organization. Donations are tax deductible to the fullest extent of the law.

Name: ____________________________________________________________________________

Address: ____________________________________________________________________________

City: ______________________ State: ________________________ Zip:__________________

Phone: ______________________________ Email: _____________________________________

Our vision is a world in which no one will be isolated from appropriate diagnosis and treatment.

the cfc chronicle - cfc...

Documents