PHACE Syndrome Community Newsletter

PHACE Syndrome Community
December 2018 News

View this email in your browser

PHACE Syndrome Community

As the only PHACE Syndrome advocacy organization in the United States, we represent thousands of individuals with this rare condition. Over the last 20 years, there has been progress in understanding the syndrome and better treatment of hemangiomas.

We have not yet found the cause and we know there are still many places in the United States and abroad where PHACE is not readily diagnosed and treated.

That’s why our vision is that someday all doctors will know about PHACE, every child with PHACE will receive the best care possible, and through continued research efforts, a cause will be found!

Your generosity this holiday season makes it possible for us to help hundreds of hopeful children who, despite their medical challenges, shine brighter than the most beautiful snowflakes!

DONATE!

Kennedi's Story

Kennedi was born full term at 39 weeks 4 days after a "picture perfect" pregnancy. Delivery was fast and an anxious mama and daddy were waiting to hold sweet Kennedi with several family members impatiently waiting their turn. The room went silent and the delivering Dr. asked the nurse to call in the NICU team. Around 5 nurses come flying in and wheel Kennedi down to NICU. Kennedi's heart was clearly visible as no sign of a sternum was present. Read more...

CVS Grant

We are very pleased to announce that PHACE Syndrome Community, Inc is a recipient of a 2018 CVS Health Foundation Volunteer Challenge Grant.
This program is designed to recognize the volunteer and fundraising efforts of our colleagues while also supporting the organizations they support. PHACE Syndrome Community received this grant in support of the Individual Volunteerism work of CVS Health colleague Erin L Butera.

Thank you, Erin and the CVS Health Foundation for your support of PHACE Syndrome Community!

Ask the Expert

by Dr. Dawn Siegel and Olivia Davies

As we were reflecting upon this past year, we realized that 2018 marks the 12-year anniversary of the PHACE registry! Wow! We have so enjoyed getting to know many of you and attending your annual meetings. We are happy to report participation is as strong as ever with 322 individuals enrolled worldwide! We are excited to share with you some of the progress we have made over this past year in our search to learn more about PHACE Syndrome and what causes it.

Some big news we have to share with you is that the PHACE Syndrome International Clinical Registry and Genetic repository was awarded a second Gabriella Miller Kids First X01 grant in conjunction with Dr. Drolet. Because our research mission is to find the cause of PHACE syndrome and to prevent and treat complications caused by PHACE syndrome, this grant is truly exciting news for the registry! The grant will allow us to look for small changes in DNA that might cause PHACE syndrome using whole genome sequencing, whole exome sequencing, and RNA sequencing. The window for including tissue samples in this part of the study closes in March 2019.

In addition to the genetic studies, we are working on several other projects to advance the understanding of PHACE syndrome. We are hoping to learn more about the long-term outcomes of hemangiomas and about the quality of life of our adolescent PHACE patients through a study that we will be launching in the near future; this study will involve two brief surveys for our adolescents and their parents. We are also looking at the long-term outcomes of individuals with PHACE syndrome who were born with cardiac anomalies to learn how often they need to follow up with their cardiologists for repeat imaging studies (echocardiograms). In addition to these exciting developments, we are working with our neuroradiology partners to search for PHACE-related blood vessel changes on brain imaging in adults living with undiagnosed PHACE syndrome.

2018 has truly been an exciting year for the PHACE registry, and we look forward to continuing our pursuit in 2019.

Through her research. Dr. Siegel serves as Director of PHACE Syndrome International Clinical Registry & Genetic Repository and is a current member of the PHACE Syndrome Community Executive and Medical Advisory Boards.

Would you help us support PHACE research and find the cause?

In 2019, we would like to expand our research efforts. With your support, we could offer a dedicated research grant, fostering new approaches to finding the cause of PHACE and raising awareness about the disease.

Please consider mailing us a check
or donating online today.

In This Issue

About PHACE Syndrome Community
Kennedi's Story
CVS Grant
Ask the Expert
Donate
Support Research
PHACE Awareness Week 2019
Our Thanks
Volunteer Story
Race for PHACE 2018 Recap

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

Support Research

Give the gift of research!

We have an exciting opportunity to help further research of PHACE Syndrome. Through the Kids First Data Resource Center, with your support, Dr. Siegel will be able to sequence 30 PHACE tissue samples. This will be very important in trying to understand what causes PHACE.

To read more about this opportunity and how to be involved, check out our website!

PHACE Awareness Week

PHACE Awareness Week will be March 17-24. Keep an eye out for more news on this fun way to raise awareness about PHACE and a great opportunity to get a cool poster!

Check out last year's activities at www.ShowYourPHACE.com!

Our Thanks!

The PHACE Syndrome Community Welcomes to the Board, Lawrence Baylis!
Lawrence is Administrator for Neonatology at Nationwide Children's Hospital. We appreciate your dedication as our Treasurer!

Thank you to Nancy Stacener for your wonderful service on our board! We appreciated your time and talents!

Volunteer Story

The PHACE Syndrome Community would like to welcome Melanie Mike as the newest member of our Fundraising Committee.
We are so appreciative of Melanie's recent t-shirt fundraiser. Working with her family and friends, Melanie brought us the beautifully created PHACEing the Odds t-shirt campaign. Melanie and her husband Ryan live in Louisville, Kentucky and in September of this year celebrated their daughter Lydia's first birthday!

Lydia was born with the P,H and A of PHACE Syndrome and is the most joyous and determined little girl you could imagine! The PSC is especially grateful to Melanie for lending even a tad bit of her time to us as she works full time and still contends with the dreaded therapy and doctor schedules that we all know are crazy during the first several years of the PHACE journey. Welcome to the PSC family Melanie, we are glad you found us!

Race for PHACE

With your support, the PSC reached a record number of runners Racing for PHACE and raising much needed awareness about PHACE Syndrome, a rare, lifelong medical disease.

Our 2018 Race for PHACE also brought together six families in our Pittsburgh community who have a loved with PHACE Syndrome. The families of the PHACE Syndrome Community are integral to in providing important advice on treatment so each child has the best care and their parents and families are emotionally supported.