Stories From the Community
Hello! My name is Ann Buneo (P-H-A-C).
I am 45 years old, and I was born and raised in New Orleans, LA. My journey to learn about and understand PHACE syndrome began two years ago. However, my story begins much earlier than that.
When I was ten days old, I developed a strawberry hemangioma across the left side of my head and face. My understandably worried parents took me to the pediatrician right away. Our kind and intelligent pediatrician determined that the hemangioma would go away and the murmur he heard in my chest was unrelated and inconsequential. It was 1977, almost 20 years before PHACE syndrome was identified.
It wasn’t until my mid-twenties when the coarctations in my aortic arch were discovered. (My
primary care physician thought it might be a good idea to get my murmur “checked out.”) After
hypothyroidism and endometriosis diagnoses and hundreds of migraines, I wondered if there
was a reason for my laundry list of medical issues. So, I Googled “hemangioma and
coarctation.” The first result was the PHACE Syndrome Community.
Finally, at the age of 43, I had a name and an explanation for what I was experiencing.
Thanks to the amazing PHACE Syndrome Community resources, I was able to learn about PHACE and get connected to Dr. Siegel. Dr. Siegel went above and beyond to help me by setting up appointments with cardiologists and neurosurgeons at Stanford Hospital. At Stanford I got the help I needed and the assurance that my cardiac and cerebral vasculatures, although abnormal, were stable and functioning well. I finally felt heard and understood since no one in Upstate New York, where I live, had ever heard of PHACE. I finally found the herd of unicorns to which I belong.
What I really want you to know is this: while I have had some challenges with PHACE, my life
has been wonderful. It can be for you or your child, too.
My hemangioma has nearly completely faded away naturally. I graduated with honors from Texas Christian University in Ft. Worth, TX, (Go Frogs!) and received my MBA from the University of Dallas. I have an exciting career in product management as the product leader for General Electric’s High Performance Computing and Supercomputing programs, making sure thousands of engineers worldwide have the technology they need to design jet engines, wind turbines, gas turbines, MRI machines, and such. I have a wonderful husband and a smart, funny 11 year-old son. My hobbies include reading, cooking, going to concerts, traditional Irish step dancing, skiing, and traveling.
If you have any questions about being an adult with PHACE or just want to talk, please feel free to
reach out to the PSC for my contact information.
Hi PHACE Syndrome Community! My name is Erika Serna and my family and I became involved with PSC In July of 2013 when my son, Martin, was diagnosed. He was 2 months old when we got his PHACE diagnosis and he has P, H,A,C. We are blessed that we live in Wisconsin and are only a little over an hour away from Children's Hospital of Wisconsin-Milwaukee (CHW), where Dr. Siegel and Dr. Drolet helped us tremendously! I began frantically searching PHACE online and I stumbled across a PHACE family's Instagram page which led me to the Facebook group. My family attended our first conference just a few months later, here in Wisconsin. We have attended two other conferences since, and we left those conferences feeling so good and empowered that we decided I would become more involved.
I am currently on the planning committee for the next PHACE Syndrome Community conference, and I am hoping to be able to assist as much as possible to make the conference a great experience for all of our families, just like they have been for my family. The PSC community is so important to our family because I remember when we were 21-year-old, first time parents and doctors just kept telling us he was "just complicated" and nobody could tell us what to expect next. When we had our appointment at CHW is when we found the PSC. Everyone we met was so welcoming, helpful, supportive and to hear the incredible stories of other PHACE children and adults, gave us hope and reassurance that our Martin can live a good quality life.
I am also new to my role as the PHACE representative in the Patient Advisory Committee for the Pediatric Dermatology Research Alliance (PeDRA). I was able to virtually attend the PeDRA conference in November and to listen to all of the research and projects was incredible! I am looking forward to attending the conference in person next year. I am excited to learn more and work with doctors, researchers and other patient representatives on pediatric dermatology research.
Today, our smart, funny, sweet, 9-year-old Martin can explain his PHACE syndrome diagnosis to his friends and has been asking about the next conference every year since we attended the last one in Atlanta.
It is amazing to see how much the PSC community has grown since 2013, and is continuing to grow. My hopes for the PSC is to always continue to raise awareness, to find a cause and to continue being the supportive community we are.
Hi everyone, my name is Jordan, and I am a second-year medical student at Georgetown University. I am originally from Sacramento, California, and graduated from UC Santa Barbara with a degree in Biology. My interest in medicine began at a young age when I accompanied my dad, a primary care physician, to visit his patients. I saw how my dad comforted his patients through difficult times and how his medical knowledge could have a positive impact on their lives. In college, I wanted to explore medicine on my own and worked as a medical assistant for a pediatrician for two years. I loved working with kids, getting to know families, and coordinating follow-up care. We often saw children with rashes, blisters, or acne who were worried about how this would affect their interactions with others. Knowing how sensitive skin disorders could be, I wanted to help treat conditions with external manifestations so that our patients would not have to worry about them at such young ages. After college, I worked as a clinical research coordinator in neonatology at UC San Diego, which further stimulated my interest in birthmarks and other pediatric skin disorders. In my free time, I enjoy crocheting and am currently making a checkered tote bag right now! I also love cooking and baking and recently baked two angel food cakes.
This past summer, I had the opportunity to work with Dr. Dawn Siegel at Stanford with the PHACE Registry. Conducting interviews was one of my favorite parts because I loved hearing everyone’s stories. It was very rewarding to learn about each family’s journey managing PHACE syndrome. I know this is a challenging diagnosis to navigate, and I admire every family’s resilience throughout the many specialist visits and daily life schedules. I felt a lot of joy in being able to celebrate diminishing symptoms, fewer specialist appointments, and the many achievements of each individual in and out of school. I am grateful for the support of the PHACE syndrome community, which motivates me to continue investigating causes and treatments for this syndrome. I hope to better understand the causes of PHACE syndrome, how to reduce the severity of symptoms, and find ways to manage care more easily.
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.
Kennedi was born June 30th, 2015 at 1:48 pm and by 6:30 pm she was at a major children's hospital an hour north of our hometown. They pulled her off the ventilator and she was breathing by herself with oxygen saturation at 100%. We stayed there for 11 days while her specialist team tried to come up with a plan to fix her sternum. They finally decided to send her home with a chest brace that she had to wear anytime she was out of the home. She was dong FANTASTIC and had no other complications.
They called us in September for chest reconstruction surgery and the plastic surgeon did an amazing job. What was supposed to be a 2- 3 day stay turned into 5. Hemangiomas started to pop up on Kennedi's face and we were unaware of what they were because they were very deep and almost looked like bruises. The Geneticist came to our room and she is the one that placed all of Kennedi's "criteria" together and gave us the official diagnosis of PHACES syndrome before we were sent home. That's when the true whirl wind swept us off of our feet.
We then had a Dermatologist, Neurologist, Cardiologist, Plastic Surgeon and Ophthalmologist to do testing and monitor our daughter at 10 weeks old. Everything seemed fine and Kennedi was doing very well. She was just taking her propanalol everyday and no other complications were present.
Fast forward to May 2018, one month before Kennedi's third birthday and we find that she is blind in her right eye due to an Optic nerve detachment whether present at birth or not we aren't sure, it had never been mentioned before. We go in June to her neurologist for a follow up scan which is just a yearly and that's when they discovered her "A". She had an angiogram in July following the diagnosis of Moya Moya disease. Following the angiogram were told she did not have it that she just had an odd layout of her arteries and a missing internal carotid. In August we requested a second opinion and are now being told she has Moya Moya syndrome and not disease.
We are again playing the waiting game while our neurologists work together to see if she will need surgery for Moya Moya following our new scans in January of 2019. Kennedi takes half of a baby aspirin once daily to lower her stroke risk.
We are learning new things daily on our Journey with PHACES. No matter the struggles Kennedi has endured she remains the happiest little girl I know. We have met so many wonderful people that God has placed in our life through PHACES.
The conference was a HUGE blessing and I encourage any and all PHACES families to attend. It is great for the children to meet other kids like them and for the parents to not feel alone on this beautiful yet scary journey we are on.
I Am Natalia and This Is My Daughter
Maria Sophia was born in Ireland in June 2020 with a clear birthmark on the left side of her head. Everyone in the hospital said to me in time it would disappear. But after a few weeks it began to turn red and swollen.
I went to the doctor when Maria Sophia was 6 weeks and he told me she has a hemangioma and referred us to a specialist. When she was 11 weeks old, we went to a specialist and from that day on our lives changed.
In August, she was hospitalized for tests and that was when we found out she has PHACES. Maria Sophia was born with PHAC, she has one side of the cerebellum smaller than another, has hemangioma (internal and external), the way that blood circulates in the brain is not common and she was born with coarctation of the aorta.
She had surgery to repair the aorta and since then she has been medicated with Propranolol and seen by several doctors. We are glad and happy because she is developing well.
I want to thank this community for all the information, because before I met you I was wondering if my daughter would survive, if I would have a chance to see her become a beautiful woman and today I know she will, because you share several cases where I could see that is possible.
Carmen's Story About Her Daughter's Early Diagnosis and Defying the Odds.
Our story started at the 20 weeks anatomy scan. We were in the midst of grieving the sudden and unexpected loss of my newborn niece and nerves were already high. This was our first pregnancy and we didn’t have anything to compare our experience against. I wondered why we kept going back and looking at the brain over and over. I finally asked if there was something wrong and the ultrasound technician told me the baby was just in a difficult position and we might get to see our sweet baby again in a few weeks. The following day I went to my OB follow up and my doctor walked in the room and sat down. She reached for my hand and told me that they found some brain and heart abnormalities.
The next few days were a blur as I waited for the phone call from the local hospital. On a late Friday afternoon, I finally got the call. Except it was a Resident from the large hospital an hour away. She introduced herself and told me she had reviewed my ultrasound and I would need to be seen at Oregon Health & Science University (OHSU) because my baby most likely wasn’t compatible with life. As my world completely stopped and time was frozen, she informed me somebody would be in touch “next week” to schedule an appointment. From that moment on, I had weekly and sometimes twice weekly appointments at both my local hospital and the large, research hospital an hour away. At every single visit I went to I was told the chances of my daughter having a normal life were very slim. Her anatomical abnormalities were rare, they had never seen a case like mine. Occasionally they would find new abnormalities, such as a “missing” right foot and non functioning kidneys.
Each appointment I was reminded that I still had time to terminate my pregnancy. Sadly the easiest part of my pregnancy was labor and delivery and I delivered my beautiful baby girl with at least 30 medical professionals (and students) standing in my room. I barely had a chance to hold my daughter before she was immediately taken to the NICU. We had been prepared for her to have immediate heart surgery and they needed to get her examined and into the NICU. I was left in the delivery room and eventually transferred to another floor by myself. I had to wait hours before I was able to go to the NICU. Somehow, someway, my beautiful daughter defied every odd. She remained in the NICU for monitoring (and many tests) but she did not need heart surgery. We were eventually discharged and were able to go home. Our first full day at home, I received a phone call from a geneticist who told me that no genetic abnormalities or syndromes were found and my daughter had a clean bill of health. What a relief! About a week later, we noticed the “bruising” from birth was getting more red and raised. Our amazing pediatrician referred us to a pediatric dermatologist and we saw him when she was 3 weeks old.
As soon as he walked into the treatment room and asked about my pregnancy and examined my daughter, he told me he suspected she had PHACE syndrome. We ended up being admitted to the children’s hospital directly from our appointment and remained in the hospital while my daughter had MRI’s, ultrasounds, echocardiograms, and started propranolol.I look back at those times and wish I knew what I know now. My daughter is now a beautiful 4.5 year old who is incredibly smart, hilarious and lives a very happy life! She plays soccer, does karate, and plays basketball at her preschool. She can spell and write her name, read sight words, and do simple addition. She can light up an entire room, make anybody laugh and melt your heart.
We still have a ton of doctors appointments and every once in a while that crippling fear comes back and sucks the life out of you after a specialist visit reveals new findings. Each and every day I am so thankful that I listened to my heart and not the doctors who told me my daughter wasn’t compatible with life and wouldn’t have any quality of life.