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PHACE Spring 2017 News
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2018 PHACE Family Conference - SAVE THE DATE!
We are excited to announce that the 2018 PHACE Syndrome Family Conference will be in Atlanta, Georgia, on June 29th and 30th with special family activities on July 1st.

Additional details to be announced soon!

PLEASE MARK YOUR CALENDARS!  We expect this to be the largest gathering of PHACE families EVER!
PHACE Syndrome Awareness Week March 19th to 26th

Join our efforts this year in raising awareness for PHACE Syndrome March 19th- 26th.

What's Happening During PHACE Awareness Week???
For the fourth year in a row, we are extremely excited to announce a week full of awareness information.  In addition to your beautiful posters being posted on our http://www.showyourphace.com site, we have the following planned:

  • Webinars created by top doctors from our Medical Advisory Board
  • FRAME Video by the very talented Rick Guidotti of Postive Exposure
  • New Facts about PHACE
Stay tuned for additional fun activities we have lined up.

Show Your PHACE campaign creates awareness and builds the pride of people with PHACE by showcasing up to three photos on a customized "e-poster" that is suitable for sharing on any social media site.  Email up to three photos to: phacesyndromecommunity@gmail.com


The poster will be returned to you via email right before Awareness Week begins.  Visit http://www.showyourphace.org to see past posters.

PHACE Care Guidelines
The PHACE Syndrome Community's Medical Advisory Board heard members of our community loud and clear. Parents can feel overwhelmed by a child's diagnosis of PHACE Syndrome, particularly because so many doctors have never heard of it. This twelve-page paper, published by the prestigious The Journal of Pediatrics, compiles all the latest research on best protocols for treatments of individuals with PHACE Syndrome.  Copies can be found here:  
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations
Ask The Expert
Why do researchers need parents’ DNA (in addition to the DNA of my child with PHACE) to help figure out the cause of PHACE syndrome?
 
The cause of PHACE Syndrome has been a challenge to discover, but researchers still believe there  may be a change in DNA that causes PHACE. Because there have been no families with multiple individuals affected, researchers believe there is a new change that happens in some, but not all of the cells of the children with PHACE. These changes are identified by looking for new changes that are present in the affected child’s blood or tissue, but not present in the parents. That is why the parent’s DNA is also needed to help see these changes (see Figure).
Georgia Ann Zimbicki's Story
Our sweet baby girl, Georgia Ann Zimbicki, was born on Monday, March 2nd, 2015. She entered the world at 9 pounds, 8 ounces and was greeted by the ecstatic faces of her parents (Matt and Liz), grandparents (Nana Lou, Papa Bob, Grandma Val, Pappy George), aunts (Lindsay and Jessica), and uncle (Mike).  Shortly after birth, we noticed what we thought to be a rash on her chest.  The Pediatrician we met with referred us to the Children’s Dermatology group, north of Pittsburgh.

On Friday, March 6th, after a meeting with the Dermatologist, we were sent directly to the Children’s Hospital of Pittsburgh (UPMC) where we were admitted by Dr. Andrew McCormick in the Vascular Anomalies group.  The following day was one of the worst days of our lives as we watched our new baby girl go through multiple tests and examinations by Vascular, Cardiology, ENT and Neuro Surgery.  From a Cardiology and ENT perspective, everything looked good.  The MRI/MRA showed she had a very small left carotid artery that they wanted to keep an eye on for risk of Moyamoya Disease.  Dr. McCormick later diagnosed her with PHACE Syndrome.  He immediately put her on Propranolol and we were discharged the following Monday. When we took her home, it was like we were walking through the door for the first time with her all over again.

Everything seemed to be going great! Georgia was a sweet baby and we didn’t notice much change in her hemangiomas.  On June 20th, we were in Virginia for a wedding. While getting ready for the wedding, we noticed Georgia’s breathing was fast and there was tugging around her lungs. We took her to the ER where they gave her a breathing treatment and diagnosed her with Croup. We drove back to Pittsburgh the following morning to celebrate Matt’s first Father’s Day with his dad, George, and my dad, Bob. Georgia did well on the ride home but shortly after arriving, the breathing issues began again. After trying the breathing treatments, we ended up taking her back to the ER where we were later admitted.  Since nothing had shown up on Georgia’s initial examinations at birth, they didn’t feel it was an issue caused by PHACE. 

A few weeks later, my father, Papa (Bob), passed away after a three year battle with cancer.  Georgia was blessed to have him in her life, even for such a short time (on earth).  Three weeks after he passed away, Georgia was admitted to Children’s, again. This time, Dr. Jabour (ENT) decided to do a scope to see if there was an issue with her airway. The results came back that her airway was 80% blocked by a hemangioma. We were devastated.  Georgia was put on a high dose of steroids to attack the hemangioma.  We noticed an improvement almost immediately.  A few months later, Georgia had a bed-side-scope where they noticed a great reduction in the size of her airway blockage and they began to wean her off of the steroids.  As of March, 2016, Georgia was steroid free!  In June of 2016, we met with Dr. McCormick and Dr. Jabour as Georgia had another MRI and scope.  The results showed no change in her left carotid artery and that her airway blockage was down to roughly 23% - we’ll take it! 

Georgia is extremely smart, sweet, and has an infectious, bubbly personality!  We always dread looking back on everything our family went through in 2015, but at the end of the day, it wasn’t a year to write off. We welcomed Georgia and her best friend/cousin, Audrey, into the world, Aunt Lindsay was cleared of cancer, and Georgia overcame her first major obstacle that life threw at her.  We are much stronger because of it all.

Do we think it was a coincidence that the blockage was identified shortly after my dad, Papa, went to Heaven?  There is no doubt in our minds that our little angel on earth has the best guardian angel watching over her every single day.   Thank you dad, Papa, for watching over our baby girl.  We love and miss you, so very much.   And a special Thank You to Dr. McCormick and Dr. Jabour for being so thorough yet sensitive to the situation.  You always listened to our concerns and helped us through a very difficult time – we truly appreciate everything!
Bob Fletcher's Special Gift to his Granddaughter
The PHACE Syndrome Community would like to send a special thank you to the Fletcher and Zimbicki family.  Although Bob only spent a few short weeks with his granddaughter, his generosity and love will live on through Georgia's life.  It was his wish, after he passed, that donations be made to the PHACE Syndrome Community to support affected families.
PeDRA Research Project
Share Your Story, Make a Difference! 

The PHACE Syndrome Community has partnered with PeDRA (Pediatric Dermatologist Research Alliance) on a research project that can help impact the timeliness and accuracy of the diagnosis. Your participation would be greatly appreciated!

Early Appearance of Hemangiomas in PHACE Syndrome - Research Project

Researchers at Indiana University, University of California, San Francisco, the Medical College of Wisconsin, and the Mayo Clinic are interested in studying the early appearance of hemangiomas associated with PHACE syndrome. We would like to invite the PHACE community members to participate in this study.

For this study, we are requesting that parents of children with hemangiomas and a diagnosis of PHACE syndrome fill out a questionnaire and send us a series of photographs of their child which demonstrates the early stages of the hemangioma.  Ideally the photographs would show your child, including the area of the hemangioma, at or around birth, 1 week, 2 weeks, 3 weeks, 4 weeks, 8 weeks, and 12 weeks of age. We believe that these photographs contain a great deal of useful information which can tell us much more than we currently know about the early signs of  of hemangiomas associated with PHACE syndrome.

If you are interested in participating, please contact Dr. Sarah Skillman at saskillm@iupui.edu for more information.
Race for PHACE
The fourth annual Race for PHACE Pittsburgh will be held September 30th, 2017. Mark your calendars and come out for some fun!
 
The race is an amazing opportunity to help support families who have been affected by PHACE Syndrome. This annual fundraiser has been instrumental in helping the PHACE Syndrome Community fund the PHACE Family Conference since 2014. The conference is an extraordinary experience for our families, giving them the opportunity to meet other families for the first time and connect with physicians as well.
 
If you live in the Pittsburgh area - come spend a few hours with us or if you live a few hours away, come make the race part of a fun weekend away.  There is tons to do in the beautiful surrounding area.
 
Would you like to have a RACE for PHACE in your hometown? Please contact us.  We would love to help you make that happen and we would be immensely grateful for your support.
In This Issue
Connect
Are you a PHACE family? 
Please join our community by clicking here

Links to our Facebook Groups
  Private Families page
  Family Friends and Supporters

Please help us treat PHACE by registering your affected family with the PHACE Registry at the Medical College of Wisconsin.

Please contact Angela Beltrame (anbeltrame@mcw.edu / 414-955-2847), or Katherine Mueller (kamueller@mcw.edu / 414-955-2846) for more information on registering.

Thank you to our past business sponsors http://www.phacesyndromecommunity.org/conference

Please Donate
Our organization is run ONLY by the generosity of our PHACE families and their surrounding families and community. The PHACE Syndrome Community Board and PHACE Medical Advisory Board are 100% volunteer-run and includes PHACE parents, grandparents, family friends, and prominent PHACE doctors. Please consider donating to help our cause. Your donation will help us sustain and grow our organization and care for affected families into the future. - http://www.phacesyndromecommunity.org/donate
Our 2016/2017 Board

PHACE Syndrome Community's current Board of Directors are:
Adriane Baylis - Secretary
Maureen Beckwith - Treasurer
Paul Butera
Cristina Camacho
Kristin Garben
Jerri Lauffer – VP of Outreach
Mary Alice Kaspar – VP of Marketing
Michael Kotyk – VP of Fundraising
Jen Meints
Steven Russakoff
Jill Salas - President
Dr. Dawn Siegel
Nancy Stracener
Andrew Ziffer – VP of Operations
Janet Ziffer

PHACE Syndrome Community, Inc.
4514 Chamblee Dunwoody Rd. #450
Atlanta, GA 30338, USA
info@phacesyndromecommunity.org
+1 (678) 744-3971
2016 Race for PHACE

All four of these sweet little girls were born with PHACE Syndrome. They had the rare opportunity to meet and spend time together at the 2016 Race for PHACE.

The PHACE Syndrome Community (PSC) is completing its third year helping PHACE families. Although our community is still very small, with less than 500 participants in the PHACE Syndrome Registry based at the Children's Hospital of Wisconsin, the diagnosis is becoming more widely recognized and utilized.

New families have begun to join us monthly due to increased awareness. Our organization is run ONLY by the generosity of our PHACE families and their surrounding families and community. The PHACE Syndrome Community Board and the PHACE Medical Advisory Board are 100% volunteer-run and includes PHACE parents, grandparents, family friends, and prominent PHACE doctors.

If you would like to contribute your time to make a positive impact in the life of affected families, PSC is currently looking for volunteers with expertise in the following areas:
  • Website development and maintenance
  • Mailchimp email
  • Grant writing
  • Organizational development
From Our President
http://Through the generosity of our supporters and the 1000's of hours of our generous volunteer's PSC has:
  • Created a Medical Advisory Board of nine physicians from various specialties
  • Established a working Board of fifteen members including eleven PHACE family members, three professionals, and one doctor with another dozen volunteers supporting the mission
  • Created a professional website with a wealth of information for new families
  • Created PHACE Syndrome Awareness Week with Chases Calendar of Events
  • Created the Show Your PHACE Campaign and website three years in a row
  • Funded and hosted two PHACE Family Conferences totaling approximately $50,000
  • Partnered with Pediatric Dermatology Research Alliance (PeDRA)
  • Establish research priorities in partnership with the Medical Advisory Board
  • Obtained permission to share the PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations from THE JOURNAL OF PEDIATRICS on our website
  • Continued our partnership with Rick Guidotti and Positive Exposure
  • Manage a very active private Facebook group of parents and families affected by PHACE Syndrome
We thank you so much for being part of our mission.

Jill Salas
President
PHACE Syndrome Community, Inc.
Copyright © 2017 PHACE Syndrome Community, Inc., All rights reserved.


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