Thursday, September 19, 2019

RESEARCH ROUNDUP: Contribute Your Voice & Experience To These Research Studies



Many researchers across the country are conducting studies to better understand craniofacial conditions. You can help improve the future of medical care for those born with facial differences by sharing your personal experiences. 
There are countless examples of research papers that benefited from participants like YOU! Recently, we covered research that was done at Seattle's Children's Hospital and the University of Washington. Learn more about the positive outcomes you made possible in this CCA Kids Blog post.
You can help provide insight for current studies to pave the way for major breakthroughs in treatment AND to assist medical providers move toward a more patient-centered care approach.
YOUR willingness to participate is one vital way to give back.


CURRENT OPPORTUNITIES
Review the links below to see if there is a study that you are eligible for and can contribute your family or personal experience to help brighten the future for those born wth facial differences.

ALL CRANIOFACIAL CONDITIONS

Elizabeth Zielins is a surgery resident doctor at the University of Wisconsin who was born with a cleft lip and palate. She is studying the effects of trauma and possible trends toward PTSD.
She says, "Part of my motivation going into plastic surgery has been to help bring awareness of the difficulties people with facial differences go through to the medical community. One of the ways we are doing this at UW is by conducting research studies."

"One of our studies is looking at whether or not the experiences people with facial differences go through can lead to symptoms of Post-Traumatic Stress Disorder (PTSD). (Traumatic experiences may include both having surgeries/invasive procedures, dealing with day-to-day appearance-based discrimination, and everything in between.) Viewing our experiences through this lens may lead to insights into understanding the long-term effects of having a facial difference."

"To do this, we are conducting an online survey for people with facial differences to fill out. Note: at this time the survey is only for adults 18 years of age or older. If you are interested in participating, please click on the link below to learn more: FILL OUT THE SURVEY


Research study is for Utah families. 
At the University of Utah and Primary Children's Hospital, we are trying to better understand the impact craniofacial abnormalities have on children and families.  This study will help us both understand and measure the many ways this disorder has affected your child and your family. 
If your child has a craniofacial abnormality (CFA), you may qualify to participate in a study.  We are working with families to create a quality of life (QOL) questionnaire.  The CFA quality of life questionnaire will help providers understand how CFA impacts quality of life of families and those who care for young children with CFA. The goal is to give providers better understanding of the impact the disorder has on families’ lives, while also providing a framework for discussing and solving the problems families face.  We hope the development of this instrument will help other families impacted by CFA .

We will be conducting some focus groups during the upcoming CCA Retreat in Salt Lake. We hope you will share your family’s experiences with CFA with us, so that it can be reflected in the instrument we develop.  The survey here will allow you to sign up for a focus group. It also asks for a limited amount of information about you and your child, to allow us to plan the focus groups and analyze the transcripts. All personal information is very carefully protected.
If you have additional questions, you can email our study team at Cleft-Research@hsc.utah.edu. The lead researcher and doctor for this study is Jonathan Skirko, MD
Families and individuals with Pfeiffer Syndrome, Apert Syndrome, Crouzon Syndrome, and Muenke Syndrome are invited to inquire about the reserch being conducted by Dr. Jabs and Carolina Sommer with the Born A Hero, an organization empowering kids born with Pfeiffer Syndrome. 

Genome Alliance 
Genome Alliance hopes to learn more about your understanding of genetic testing and family medical history with their one-minute survey. 
APERT SYNDROME
Dr. Drorit Gaines in California is conducting research on the connection between ADHD, Autism and sensory disorders among children born with Apert syndrome. All that is required for this study is an Apert Syndrome diagnosis, copies of your medical records, and the completion of a questionnaire. Click the link above for more information. 

CLEFT LIP AND PALATE 


Researchers across three hospitals and universities are studying surgical outcomes of cleft lip patients. The Seattle Children's Hospital, University of Illinois - Chicago (UIC), Shriners Hospitals for Children (Chicago) and the University of Washington have teamed up to learn from patient and their parents about their impressions on change of their infants face after surgical interventions. Study coordinators, Laura Steukle and Solange Mecham describe the process of the study and how you can help in the description below, 

Our study team has spent the last two years interviewing parents and craniofacial providers to create a tool to evaluate interventions and treatments that infants with a cleft lip with or without a cleft palate are going through. Now that this tool has been developed, we are looking to validate the questionnaire. To do this, we are asking parents of young babies and young children with a diagnosis of cleft lip with or without cleft palate to complete the iCOO questionnaire a few days in a row at the following times 1) before surgery 2) 2 days after lip surgery and 3) 2 months after lip surgery.  As our way of saying thank you, we are giving parents $5 a day each day they complete the iCOO with a bonus $25 for each complete series, for a total of up to $160 for their time and effort. We are inviting up to two caregivers in the home to participate. Our goal is that this tool will help clinicians and researchers better understand how these interventions are affecting the whole health and well-being of infants and young children with the hope that this understanding will improve future cleft care.

GOLDENHAR SYNDROME

In the past two years, we at Baylor College of Medicine and Texas Children's Hospital have begun a genetic research program to look for the genetic cause(s) of Goldenhar Syndrome (also variously called Hemifacial Microsomia and Facio-Auriculo-Vertebral Spectrum). You may be aware that very little is known about the genetic explanation for these rare disorders, despite their variable effects on the eye, the ear, the face, the limbs and skeleton, and occasionally the kidney, among others. Also, these conditions vary widely from one family to another, so we expect that there is more than one genetic explanation for the same "diagnosis”, thus making the task of unraveling the true explanation(s) in any one family considerably more challenging! Many families have already had conventional genetic testing, which usually yields almost no useful information.

As part of The Center for Mendelian Genomics at Baylor College of Medicine, I am pursuing the genetic explanation(s) for the Goldenhar Syndrome and related conditions.


Since you as parents have an essential role in caring for, monitoring, and guiding the education of these children and young adults, I would appreciate most sincerely your joining us in this effort. Without your dedication and willingness, we cannot achieve the understanding that both the families and many scientists and physicians have wondered about for decades! There is no cost to any family for the detailed genetic analyses that will be done.


If you are interested in helping your child and in joining this research program, please contact me. Nothing of this scale has ever been done for this spectrum of disorders.

Please call my academic office at (713) 798-3030 or email me at rlewis@bcm.edu. 

If I am not in the office, please leave a voice mail with your name and a phone number for me to return your call. Also, please mention Goldenhar Syndrome or Hemifacial Microsomia in the message. I will call back and explain the details!

Thank you! Our team here is most eager to proceed with this unique and exceptionally important research program!


Richard Alan Lewis, M.D., M.S. Professor, Departments of Molecular and Human Genetics, Ophthalmology, Medicine, and Pediatrics, Baylor College of Medicine and Texas Children's Hospital




UNDIAGNOSED
The overall goal of this project is to connect rare and undiagnosed families directly with genomic researchers to discover all of the genes that cause rare craniofacial diseases, and use this information to increase the rate of rare craniofacial disease diagnosis. 
Participants will complete an online form about their family and childhood onset rare and genetically undiagnosed craniofacial condition. From there, a member of our study team will set up a live video conference with the family to explain this research study and make sure that all of their questions are answered. With permission, we’ll reach out to the patient’s doctors directly to collect a copy of their medical records. Then, we’ll mail a sample collection kit directly to their house. Upon returning the kit to The Broad Institute of MIT and Harvard, samples will be registered in our tracking system and DNA will be processed for exome or genome sequencing. We will then begin analyzing data, comparing it to healthy individuals and identify which mutations in the genome are common, and which are rare and potentially related to their craniofacial condition. If we find results that explain the underlying cause of the rare condition present, we will request a second sample that will be sent to the Partner’s Laboratory for Molecular Medicine (LMM) in Cambridge, MA and will be confirmed in their clinical lab. LMM will provide a clinical report explaining the genetic findings, and these results will be shared with you and your local doctor. Click the link above for more information. 

Wednesday, September 18, 2019

#ThankfulThursday: Links of Love Benefits CCA Kids Thanks To Big Sponsors, Raffle



CCA had a wonderful turnout for its annual Links of Love tournament hosted this year at Top Golf Park Lane last Thursday, September 12th. 

Many gathered, golfed in groups, and enjoyed snacks. Others mingled while meeting other CCA families, while perusing the large raffle packages during this fabulous, friend and fund raising event. 


CCA Staffers showcase the extensive collection
of raffle baskets.
We could not be more grateful for our loyal Links of Love sponsors, Team Impact (Tommy Reeves, of Texas, and Tom Reeves, of California) and Team Hickerson,  from Hickerson Mechanical, who come back year after year to this signature event to benefit CCA Kids. In addition to their support, we also had Board Member, Steven Weiss and his wife, Petty, raise over $5,000 for our kids. Thank you for all your hard work.

Our generous donors and sponsors helped three families take part in the days events. Our raffle packages are always impressive thanks to donations collected and made towards our extravagant raffle packages. Many thanks to Zack Albritton, Karen Allbritton, and Brad Boatner. This family found and helped get items donated for these fully-stocked raffle baskets. 
Zack Allbritton, Brad Boatner, and Karen Allbritton


Thank you to our raffle donors including: Grimaldi’s Pizza, Pie Tap, Asian Mint, Meso Mayo, Village Burger Bar, In and Out Burger, Raising Canes, Fleming’s, Hard Eight BBQ, Whataburger, Cheddars, Red Lobster, Buffalo Wild Wings,  Gaylord Texan, Medieval Times, Alamo Draft House, Toys Unique, International Scuba, Castle Hills Taekwondo America, Fossil, Belk’s, Lily Pulitzer, Diptiques, Kendra Scott, Alex and Ani, St. Bernard’s Sports, Nixon golf, Trader Joes, Western Sons Vodka, The Peace Family and the Andler Family.
Steven Weiss with local, CCA Dallas friends Michael Brown
Brittany Brown, and Allison

Finally, no CCA event would be complete without a fine photographer contributing their talents to help us document the day of fun and fundraising.  Chirrisse Owens you did a fantastic job making sure to capture the evening in the best possible light. 

Thank you to everyone for making it a very special day for CCA!



Monday, September 16, 2019

Survey Needs Participants To Learn About PTSD



Elizabeth Zielins is a surgery resident doctor at the University of Wisconsin who was born with a cleft lip and palate. She is studying the effects of trauma and possible trends toward PTSD.
She says, "Part of my motivation going into plastic surgery has been to help bring awareness of the difficulties people with facial differences go through to the medical community. One of the ways we are doing this at UW is by conducting research studies."

"One of our studies is looking at whether or not the experiences people with facial differences go through can lead to symptoms of Post-Traumatic Stress Disorder (PTSD). (Traumatic experiences may include both having surgeries/invasive procedures, dealing with day-to-day appearance-based discrimination, and everything in between.) Viewing our experiences through this lens may lead to insights into understanding the long-term effects of having a facial difference."

"To do this, we are conducting an online survey for people with facial differences to fill out. Note: at this time the survey is only for adults 18 years of age or older. If you are interested in participating, please click on the link below to learn more:


30 Stories 30 Faces 30 Years: Priscilla Perla





CCA is a wonderful family! As a child growing up differently knowing there are others like me is comforting. The meetings and picnics we attend also make my mom feel better, too. She is not the only parent who has to go through this. Plus everyone is so nice to all of us it makes us feel welcome. We appreciated the recommended doctors and medical staff, without them we wouldn't get the correct guidance we needed. Thank you all!

                                                                                      Priscilla Perla, CCA Teen



Priscilla Perla lives with her family in sunny La Jolla, California. She will attend La Jolla High School in the Fall as a Freshman. Priscilla enjoys all types of movement and dancing. She expresses her emotions and strong, self-image through jazz, ballet, tap, hip hop, and modern dance. Thanks to San Diego-area Make-A-Wish Foundation, Priscilla was able to meet her idol, Selena Gomez. As a family, the Perlas enjoy going to the movies, trying new foods at local restaurants, and indulging in the occasional ice cream cone. Relaxing and spending quality time together is very important to this family. Priscilla is grateful for this family time. She reflects, “I want to be grateful for what I have, like my family.”

Even with a grateful heart and strong family bond, Priscilla was not immune to the poor self-esteem that comes after being bullied. Today, she is more confident than ever and able to accept that she looks different. Priscilla believes she and other human beings deserve respect. Her advice for our kids, “Be yourself, no matter what you look like, you’re just like any other kid.” Through the vehicle of social media, Priscilla shares positive images and messages with the hashtags “#StopBullying, #CleftPalate, #Tracheostomy, and other self-affirming words. She hopes to continue to encourage kids with facial differences to stand up for themselves as they make their way into their bright and bold future.

Tuesday, September 10, 2019

States Declare September Craniofacial Acceptance Month





Our most recent initiative to reach more people during this month of acceptance and awareness included inviting states to sign proclamations stating that September is Craniofacial Acceptance Month. Many states responded with enthusiasm, including Utah, Hawaii, Colorado, New Jersey, South Dakota, and many more. To see if your state recognized September as Craniofacial Acceptance Month, check our website.  

While you are there, you can also read the proclamation signed by state governors. We want to thank all of those who have participated in this latest push for additional acceptance. It means so much to have our elected politicians and government officials behind us in the fight for equality.  




Friday, September 6, 2019

30 Stories 30 Faces 30 Years: Grandparents Day Edition



When we are looking for unconditional love, many look no further than their grandparents. These amazing family members dole out tons of ice cream or the best mashed potatoes, always have a special...mischievous... story to share about your mom or dad as a child, and some will even let you ride the dog around the living room. Their hearts are so filled with love and pride, grandparents just can’t say “No.” 

Thanks to National Grandparents day, we get to celebrate all of our CCA grandmas and grandpas (and Gigis and PopPops, Nanas and Opas, too!). We felt that the Lances and Laugharns, grandparents to Shierry Laugharn, exemplify that unconditional love that all CCA grandparents feel for their CCA kids. 
Tim (Gaga) Lance

These two sets of grandparents create a double duo of love for their CCA kid. They work together to make Shierry’s journey a celebration whenever given the chance, and support their own children to be amazing parents to boot! Both sets of grandparents gather together for a special family tradition in honor of Shierry, “Before each of Shierry's surgeries, no matter how minor, the grandparents get together with Shierry, Rachel, and Dan for a pre-op pizza party.  It is a tradition we all hold very dear,” says Tami Laugharn. 

How amazing is that?! 

Rachel, Shierry’s Mom, speaks volumes of the support her and Dan’s parents provide, “Shierry has had a four-person, full-time cheering squad since the moment she was born. Every new thing my husband and I have to learn, they’ve stepped up to learn too, whether it be feeding her as a baby with her special bottle, or putting in her prosthetic eye. They love to hear about every goofy detail of her day. She has never felt anything other than pure love and care from her grandparents and is one of the luckiest little kids in the world.”

Shierry, Dan, and Rachel live in Austin, Texas. They love dancing, playing in “Invisible World,” to expand their imaginations, and going to the park to enjoy the playground and grass. 

Jan (Yaya) Lance
Rachel’s parents, Jan (Yaya), and Tim (Gaga) live in Austin, too. They love the Texas Longhorns sports teams, hiking, and volunteering in the community. Yaya Jan says, “CCA has provided Rachel and Dan with opportunities to learn from and form relationships with other parents who deal with extraordinary circumstances on a daily basis. They’ve grown with the experience, so that now they can be a source of knowledge and support for others. Rachel, Dan, and Shierry look forward to meeting up with old and new friends at the Retreat each year.”

Jan is always jazzed about our Annual Family Retreat, too, “we loved seeing photos of Shierry with her new (and hopefully lifelong) friends at the 2019 Retreat. They were inseparable! We can’t WAIT to see y’all next summer when the Retreat comes to Austin, our hometown.”
And we can’t wait for Austin either, Jan. 

Gary (Grandpa), Tami (Game), and Shierry
Dan’s parents, Tami, (Gami), and Gary (Grandpa), live in The Woodlands. While they love traveling and are dedicated to their church, they are even more devoted to their granddaughter. Family is first, which is evidenced in one of the photos that Tami shared with four generations of Laugharns pictured. So tight is the lineage that Shierry was named for her great-grandfather, Edward Shierry, who sadly passed away last month. 

Shierry and her Great Grandfather Edward Shierry for
whom she is named.

Tami echoes the sentiments shared by Jan about the impact CCA has had on their family. “CCA has given our families the support they needed.  Rachel being able to reach out to people who have gone through similar situations is so wonderful. You know you aren't alone.”

She further illustrates the meaningful, active network of CCA parents by telling this story, “For example, I remember her (Rachel) having a hard time finding an eye ointment that worked well for Shierry. Someone from the East Coast sent her a box full when she found it. Just knowing that others have gone before you, and can give you advice, love, and care is special.” 

Both the Lances and the Laugharns agree with one more thing Tami mentioned during our conversation, “we are blessed to have this super girl as our granddaughter.”

Indeed, we all are blessed to have you and Shierry part of the CCA community. Thank you for helping her be the “super girl” that she is. 
Grandpa Laugharn and Shierry
Happy Grandparents' Day! If you are lucky enough to have your Nanny or Grampy around: call them, give them a hug, and thank them for their enduring love.

#CAM2019 Press Release - You Distribute! You Raise Awareness!



Please share this press release with your local media to help spread the world about Craniofacial Acceptance Month. Download it here from Google Drive. Share it with your local TV news, newspapers, and other media outlets. Hopefully this will help you get in front of the cameras or reporters to share your story, and widen the circle of acceptance for those affected by facial differences.