COMMUNITY STORIES
PHACE Syndrome Community is united by our desire to find a cause and cure for this condition, but until that time, we need to find hope, inspiration, support from one another.
Meet Whitney
The PSC’s National Conference this past June was where I shared my family’s story. I shared the journey from the anatomy scan, seeing our baby girl’s adorable and perfect toes. I talked about the ultrasound tech who became noticeably less chatty as she was spending a lot of time looking at our baby’s head, particularly the back of it. I won’t forget the moment I asked the ultrasound tech, “Is everything ok?”, and her forced smile, “Oh, yes, I’m just having a hard time seeing the back of her head, we may have to refer you to a specialist with better equipment just to be sure.”
It became instantly clear, there was definitely something to worry about.Like many families, hearing the term “PHACE syndrome” starts the endless nights of reading, researching, and trying to find answers. The first six months of Mira’s life were ROUGH. Besides the chaos or juggling appointments, medication, and dealing with rude comments from strangers, we also felt extremely alone. The usual village of fellow parents that you bring your questions to weren’t able to answer ours. While they could tell you about how to avoid diaper rash, we were up at night reading about the signs of stroke in infants and researching physical therapy options in our area. Worst of all we were plagued with the fear that the isolation we were feeling as parents would be nothing compared to the isolation Mira would feel as a child with a rare syndrome and a visible physical difference.
The day we stumbled upon the Facebook group for the PSC, I was in tears. There were other families, other children, other babies that looked just like Mira. People were asking questions and the answers were supportive, kind, and plentiful. We saw pictures of kids with PHACE syndrome playing sports, starring in school plays, and most importantly being joyful and happy. And not only was there a village of families to draw support from in the Facebook group, but there was an entire website filled with resources and information about research being done. In an instant, the constant, seemingly unmanageable worry that we had been carrying since that day at her anatomy ultrasound started to shrink. We weren’t going to be alone on this journey, and neither would Mira.
Since finding the PSC I’ve discovered that our story is not rare because of the symptoms Mira has (PHA), but because of our access to specialists with PHACE syndrome experience, and their proximity to where we live. Many PHACE syndrome families have to travel hours, or even fly to other countries, to find care for their child, and that’s if they are able to get a definitive diagnosis in the first place. The six months we struggled with isolation was long. We know there are numerous families who didn’t find our community until their children were 2, 9, or into their teens.
Some new members of the PSC are adults with PHACE syndrome that spent their whole lives without the answers that are so easily obtained now.
Many families have also experienced first hand the outreach and research work the PSC does and how it is so vitally important.
The outreach that the PSC focuses on, including awareness and community building, such as the National Conference is so important to families with a PHACE syndrome diagnosis. In spreading awareness, the PSC strives to ensure that families don’t have to struggle to find doctors who have heard of PHACE syndrome. The PSC works to make sure more medical professionals will recognize the signs of PHACE syndrome early on in the care of their patients, and get them the testing and treatment they need. By building a bigger and more visible community, we can grow in our ability to reach more PHACE syndrome families and late diagnosed adults who are still feeling isolated and in desperate need of support.
The PSC dedicates a large portion of their resources to furthering research. Past research has aided in the discovery of symptoms, and in developing treatments and standards of care. Current and future research hopes to answer many questions about long term outcomes, new treatment options, and finding the cause of PHACE syndrome.
None of this, the outreach and the research, would be possible without the tireless work and financial resources that the PSC provides, and none of that is possible without fundraising and donations from generous community members like you.
Meet Claire
Story by Mother Amy Lanzhammer
Hello everyone! I’m Claire’s mom, Amy. I had a regular pregnancy, Claire was a full term baby. When she was born, it took a bit for them to get her breathing. Her skin was redish and where her hemangioma was it was all white. She has a sternal pit and a small growth on her chest. Other than that she seemed like a healthy baby..
We went to her 1 week check up and by then the hemangioma on her face/chest had turned bright red. The Doctor was unsure of what it was so she sent us to see Dermatology. So about a week later we saw her and she was thinking it was a port wine stain. She was unsure so she referred us to the Children's Hospital. Claire was 4 weeks old when we had our appointment. We met with a TEAM of Doctors. They examined her and heard Stridor. We had no clue that that noise was not good.. They directly admitted her, did a bronchoscopy and found she has PHACE syndrome. They started her right away on Propranolol.
Many tests later we have her final diagnosis, she has left sided beard distribution hemangioma that is also subglottic and also in her left ear..Heart murmur and sternal pit She has had multiple laser treatments, scopes and numerous other tests yearly, she had her tonsils and adenoids removed also. At 4 years of age we weaned her off the Propranolol and the hemangioma started growing again.. So they did steroid shots right into her cheek in a few areas. This has helped quite a bit.
She has had numerous physical and learning delays. She turned 6 years old today! March 8th! She has just graduated out of PT and OT. She continues with Speech. She now has a hearing aid for her left ear which is the one with the hemangioma which is really helping! We are so proud of how brave and fearless #phacesyndromewarrior is!!!
Meet Everleigh
This is our daughter Everleigh.
Everleigh was born on March 19 at 41 weeks. We noticed that she had a sternal pit with some vascular markings on her chest as well as some white spots on her left cheek and purple vascular markings on her scalp. We took Everleigh home and enjoyed every second with her but as she grew we noticed her markings were becoming more red and seemed to be spreading.
We were referred to a pediatric dermatologist at the children’s hospital of Eastern Ontario when she was six weeks old. After that appointment began our PHACES journey. She went through a variety of tests, including an MRI, echocardiogram, and visits with a pediatric ophthalmologist. Everleigh was diagnosed with PHACES Syndrome shortly after we got her MRI results.
Everly has a narrowing of her left and right cervical arteries, as well as some other vascular abnormalities in her brain, along with the large segmental hemangioma on the left side of her face. We started her on propranolol at six weeks old, and remained on propranolol until the age of two. This medication took the majority of Everly's hemangioma away. She will always have some vascular markings due to the deep nature of her hemangioma.
Everleigh is a thriving four-year-old who keeps us on our toes every day with her beautiful smile and great sense of humor. She is monitored by the medical team at Cheo yearly. Everly will start school in September and we have not seen any issues as to date regarding her development. She is just a regular kid who has taught us how strong and resilient children can be.
Meet Corinne
Hi everyone! I'm Corinne, living in sunny Arizona. I'm a 33-year-old Midwesterner at heart. I have been diagnosed with the HACE of PHACE. It's been an interesting ride, so put our seatbelts on for this knowledge drop! I was born at 42 weeks via C section in 1989. I immediately spent 3 days in the NICU, and they said my Hemangioma birthmark was all external. Three months later my mom noticed I had a stridor breathing episode. After being rushed to the ER, they determined that my Hemangioma was fully internal as well. At that moment, my airway was swelling shut. The treatment was liquid prednisone and I stayed on that until I turned 4 1/2 years old. When I was around 2 months to 8 months old, the surface Hemangioma ulcerated, which resulted in the scars I still have today. Lasers were a very new creation when I was a baby, so my mom held off on lasering until I was four years old. I am glad she did this, because seeing how spread out and "less solid" the rest became from infancy to 4 years old was a big difference. I began Candela laser surgeries when I was four and had about 28 laser surgeries all together. My childhood was pretty smooth sailing. I was in the routine of laser surgeries and had no major complications. I had no major issues, that is, until I turned 12. When I was in middle school, I was in the wrong place at the wrong time which landed me in the hospital with a concussion. That is when I found out that I have tortuous arteries, and they're not where they belong. We like to refer to it as "spaghetti like." At that time, during my first angiogram, it was determined that I had one Brain Aneurysm. It is a dilated artery that is classified as an Aneurysm and has been monitored since. The Aneurysm has not changed in size, and Doctors state it likely will not burst. Upon discharge of that long hospital stay, I was put on baby aspirin. Folks, if there's one piece of advice, I have for my PHACE Syndrome community, it's this: Take your artery medications!
Life was pretty peachy from age 14 or so to 28 years old. I feel blessed that I got to do all of the "normal" things any kid or adult can do. I had my first boyfriend as a teen, I went to Prom, I graduated High School (with a lot of comprehension and focus issues) I got my first apartment. Here's where we take a turn. I also go-karted, four-wheeled, roller coaster rode, contact volleyball played, and raced cars! If it was adrenaline-based, I did it. I will fully admit from the age of 14 to 28 years old; I was not friendly to my body. Additionally, as I mentioned, I was a stubborn kid and young adult, and did not take baby aspirin hardly ever, let alone on a daily basis, how instructed. I do heavily regret this, and here's why: At 28 years old, after slightly cracking my neck, my body immediately went completely numb. My hearing was muffled as if I was on an airplane. I looked over to the friend I had in the car with me, I saw half of her face distinctively, the other side was pixelated. Of course, I was thinking what you're thinking, "Oh no, I'm having a stroke." I was admitted into Riverside Hospital in Columbus, Ohio. It was a trying time. Here I was as an adult in her late twenties who had the script down, "Hi, I'm Corinne. I have a Hemangioma birthmark, it's internal and external. I have arteries that aren't where they belong, and a brain aneurysm. I know that's wild, and I don't have a name for this." As most of you know, my doctor immediately hit up Google and researched. My team of doctors reiterated most of what I'd heard my whole life thus far. "You're a medical anomaly and I've never seen a human like you before in my entire life." I'd heard that over and over, and of course I expected it. In the course of that hospital stay, I had my fair share of MRI's, cat scans, and another Angiogram. After much deliberation, it was determined that I had dissected 3 major arteries in my neck, from what I thought was a small neck stretch and crack. I had dissected both vertebral and right carotid arteries. Additionally, I was told that my arteries are "elderly" or "tissue-paper-thin."
As you can imagine that day was full of panic, but overall, just a feeling of "Wow, I made it out alive, again!" The staff of doctors still didn't have answers, so naturally Momma Bear, Becky Partin, got to work! She was a part of a Facebook group called Parents of Children with Hemangioma Birthmarks. She immediately reached out to a wonderful doctor, that most of us know and love, Dr. Linda Rozell-Shannon through direct message. My mom told her practically my whole life story, and up to me sitting in the hospital bed that day. Doctor Rozell-Shannon asked for pictures of me, including baby pictures of me, as her reply. It was in that moment after my mom sent them over that we had our diagnosis. "I am certain that your daughter has PHACE Syndrome." My immediate response, what the hay is that? Needless to say, a lot of doctors got educated that day, and I was a hot commodity in the stroke wing of the hospital. After I was released, and up to now I am prescribed Eliquis blood thinner. Shortly after, I started developing ocular migraines, and have been prescribed Ajovy injections for that.
Are you ready for the silver lining? I found my people. In June of 2018, I attended my first PHACE Syndrome medical conference. This was the most surreal moment I've experienced, by far. I was on this planet for twenty-eight years at that point, and had never heard of another person like me, and then I was in a hotel conference room in Atlanta, surrounded by people (mostly children) just like me. Since then, I've also thrown a car show in Columbus, OH to benefit PHACE Syndrome.
I am now thirty-three years old, and I will say I'm doing great. I am a homeowner, I have a lovely career that I've been a part of over seven years, and I've mostly healed from my dissections, except now I have vertigo easily, which is a new one for me. To my PHACE Syndrome community: Your beautiful babies and children are going to grow up and be okay. They are going to do amazing things. It is going to be okay, and sometimes you may know more than the doctors. I will close by saying, treat your bodies well, and always take your medication!
God Bless and Good Vibes,
Corinne Marlow
Meet Sunny Joy
When we found out in November of 2022 that I was pregnant with my second child, my husband and I were over the moon. We began planning, nesting and cozying up to the idea of having a baby in our arms in the very near future.
As so many of our stories begin, our world was shattered during our 20 week ultrasound. During the exam, we were told not to be surprised if we were called in for another ultrasound just because sometimes babies could be in tricky positions making the reading of the scan difficult. Thinking nothing of it, we left the appointment starry eyed and marveling at the pictures from the scan.
A few hours later, I received a phone call from my doctor. The voicemail she left urged me to call her back as soon as I could. My heart instantly sank, knowing deep down that something wasn't right.
We were initially given a diagnosis of Dandy Walker malformation due to the fact that her cerebellum was slightly tilted, and one side was smaller than the other. Of course, the first thing we did was Google it. Hindsight... Don't Google it...it has a way of making everything seem so much worse...We went back and forth between devastation and optimism as the malformation was on such a spectrum that we genuinely had no inkling as to what to expect. The day after we got the news, my husband, my daughter, Ruby and I all flew to San Diego for spring break. My doctors urged us against it as they wanted me back in the office as soon as possible. My husband and I decided to carry on with our family vacation plans as we didn't know what future vacations would look like. It was on that trip that we chose her name, Sunny Joy.
I began seeing a maternal-fetal medicine doctor every week throughout the duration of my pregnancy. Each appointment was riddled with worst-case scenarios and more findings that determined our baby would have either no concerns at all, or the worst concerns imaginable. We were utterly lost.
We were told that we could have the baby where we lived in Livingston, Montana, but as the pregnancy progressed, our doctors felt as though a bigger hospital would be better equipped for this at-risk pregnancy. We were referred to the University of Utah Hospital in Salt Lake City. They wanted me to relocate at 37 weeks gestation and wait out the remainder of the pregnancy there. I was induced at 39 weeks. On July 22, 2022 at 10:47 pm, our Sunny Joy was born. We noticed right away that there was bruising on the tip of her nose. Initially, we thought it was from traveling through the birth canal. A few minutes after she was born, it was determined that she would need to go to the NICU for more 'round the clock care. This is where she would stay for the next 2 weeks.
Seeing our daughter, so tiny and vulnerable, connected to wires and tubes was absolutely heart breaking. Doctors were in and out constantly. Thank goodness for the dedicated team of doctors we were given. Our neonatologist initially wondered of a potential case of Sturge Webber as we noticed the "bruising" on her nose was darkening and spreading. Upon further investigation, a diagnosis of PHACE syndrome was decided upon by her pediatric neurologist.
Sunny has PHAE. She is currently on Propranolol for her hemangioma. We were recently given the option to discontinue Keppra for a small seizure she had at birth. During a recent EEG, it was determined that there was no seizure activity detected, so we are continuously on the lookout for anything that could remotely resemble a seizure, an activity I assume will continue for the rest of her life. We are cautiously optimistic that we can be done with it for good.
At the end of the day, Sunny is happy, healthy and thriving. Only time will tell what obstacles we may face in the future, but we have the utmost confidence that she will overcome all of them. She has already shown us what she is capable of; nothing can stop her. We are still seeing doctors frequently to monitor her development, and she has also recently started physical therapy as malformations of the cerebellum can result in slower gross motor development.
I wish we wouldn't have been so worried for the last half of the pregnancy. Looking at her now, we know how capable she is. Sure, we still have worries, but it doesn't seem as heavy as it was before she was born. It's not what we expected. It's not what anyone expects when they become pregnant. We have just had to adjust our definition of "normal". We are so thankful for the PHACE Syndrome Community and all it has done to help us in our journey with this syndrome. We are also incredibly proud to share our story in the hopes that one day, we can bring peace to another family walking a similar path as ours and our sweet Sunny Joy.
Meet Carmen
Carmen shares her 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.
Meet Melanie and Lydia
My name is Melanie and my daughter, Lydia, is 5!
We live in Louisville, KY.
Lydia has P.H.A.
I had a totally normal pregnancy and when Lydia was born, we were sent home and told that she had a bruise on her head from the delivery.
My husband and I didn't think anything of it.
A hemangioma began to grow. Her pediatrician mentioned that they were fairly common and would go away by the time she was age 10.
At 1 month old, Lydia actually had viral meningitis and was hospitalized. While in the hospital, she had an MRI which showed that her left cerebellum was smaller than her right side. The doctors still didn't think anything of it. They told us that she may experience some developmental delays but to let our pediatrician know if she does.
My husband and I still didnt think anything of it.
At 3 months old, her hemangioma was so large that we were desperate to get a specialist to take a look and were finally referred to a dermatologist, who ended up being a lifesaver!
The dermatologist immediately knew it could possibly be PHACE syndrome. She instantly ordered an MRI and MRA to be done along with seeing Ophthalmology and Cardiology.
I was so overwhelmed I couldn't breathe. All of a sudden I'm being told that my beautiful baby may have an extremely rare syndrome that nobody knows about?
I knew I had to do anything and everything to get my baby the help she needed.
Who do I even turn to? My pediatrician had never heard of this syndrome. What is Propranolol? It will lower my daughter's blood pressure, blood sugar, and heart rate each time she takes it for the hemangioma? Will I even be able to take off work to get Lydia to all of these dr appointments? Will insurance cover all of these procedures and tests?
It was so awful. My husband and I were beside ourselves. Lost.
Luckily, I found the PHACE syndrome community FB group!!
What a relief! To find parents that were going through the same things we were!
I had other mommas reaching out to me, offering advice, etc.
We no longer felt lost and alone.
I ended up getting contact info for the PHACE clinic at the Children's Hospital in Wisconsin. I was able to send all of Lydia's imaging from her MRIs and MRAs. They advised that Lydia luckily has a mild case of PHACE. No additional imaging is needed!
Lydia did have developmental delays. She did 3 years of Physical and Occupational Therapy and 4 years of Speech Therapy (exhausting on us and Lydia but sooo worth it)!
She is doing so well!
She is currently in Junior Kindergarten and will start Kindergarten in the Fall of 2023.
Thanks so much to all of the parents in the PSC who have helped us on our journey when we had no one.
I look forward to one day meeting other parents in person at a PSC national conference!!
Meet Ophelia
Meet Ophelia – a member of the PHACE Syndrome community since she was diagnosed (P, H, & A) in March 2020 . Like many us, we had never heard of PHACE Syndrome prior to her diagnosis.
When Ophelia was born in February 2020, we were told by her doctors that there was slight bruising on her face from the way she was positioned prior to birth. The “bruising” quickly spread, turning to the left side of her face being covered in a red mark, and us realizing this was much more than a bruise. At her two-week appointment we asked about the redness, to which our pediatrician at the time said, “sometimes this happens, it will eventually go away”. Hemangioma was never mentioned. The very next day Ophelia’s left eye was swollen, and she could no longer open it. We immediately contacted her doctor, who recommended us to pediatric ophthalmology. We didn’t know it at the time, but this was the beginning of our PHACE journey. At just three weeks old, and on the cusp of a full-blown global pandemic, Ophelia was admitted to Doernbecher Children’s hospital and diagnosed with PHACE Syndrome.
We’re grateful we found the PHACE Syndrome community – her diagnosis was scary at first, but it was a huge relief to talk to others who knew exactly what we were going through in real time. We’re also grateful for the pediatric ophthalmologist who was familiar with hemangiomas and PHACE Syndrome and knew to get us referred to pediatric dermatology as quickly as possible. Without him, I truly don’t know what would’ve happened in those early pandemic days.
So while at this stage she would have normally been taken off propranolol, in January 2022 Ophelia experienced an extremely elevated heart rate episode and after an ER visit and later spending a weekend with a heart rate monitor, she was diagnosed with Wolff-Parkinson-White syndrome, which is also treated by propranolol, just prescribed by her cardiologist, instead of her dermatologist now.
Now at almost three years old, Ophelia is thriving. She’s your typical toddler, running around playing and talking your ear off, with one exception – what’s left of her beautiful, red birthmark on the left side of her face.
Meet Callan
Hello PHACE syndrome community! I'm Kim, Callan's mom. Callan is 7 months old, and was diagnosed with PHACE syndrome in August 2022.
Callan's story is a complicated one, like so many families affected by PHACE. After delivery, doctors took notice of white marks on his face right away (which would change to red hemangiomas later). Thankfully, we were able to get into the local Children's Hospital Dermatologist within a week. By then, his hemangiomas had grown, darkened, and spread. Luckily, we got onto the miracle med Propranolol to get it under control. My husband Steve and I are SO grateful we were able to treat them so quickly.
MRI/MRA findings confirmed the PHACE syndrome diagnosis. Dr. Hand at Oishei Children's Hospital has been our point-person and helped connect to different doctors and get all the required tests done. We also got a second opinion from Boston Hospital where they shared their recommendations with us, which we have followed and appreciate so much! We are so grateful to Dr. Hand and the other specialists we have seen at Oishei. While Callan is their first patient with PHACE, they are more than willing to learn, listen, and refer to those who know more.
Right now, we are continuing on Propranolol, and added on a topical medication to help shrink the hemangioma under Callan's eyelid. He also has a pronounced hemangioma on/inside his lip which we are watching closely. He will get follow up scans within the next month, and continues to see several doctors monthly/annually.
Overall, we are so lucky Callan isn't facing more challenges with PHACE, and we're taking it one day at a time! We are sending so much love and support to other families and people affected by PHACE. The "severity" of PHACE is truly a spectrum and we hope others have the support we have as we navigate through. We will be turning to this community more and more as years go on and we're explaining PHACE and managing it with our growing little one.
We are honored to share Callan's story, and excited to connect with more members of the PHACE syndrome community, and raise awareness. Thank you so much for letting us share, if there are any questions, feel free to reach out!
Meet Kadence
Hi all! I’m Kadence and I am 23 years old living with PHACE. I was officially diagnosed at 11 years old, and have been so grateful for the community that has grown to support family, friends, and individuals that live with the challenges of this syndrome. I work as a Registered Behavioral Technician providing ABA therapy to those with autism, and I have found ways to connect with my clients on a level I couldn’t have dreamt of, as we share insecurities, obstacles and are continuously misunderstood by people close to us and by medical professionals.
The first indication of PHACE syndrome was the facial hemangioma on my right side. They did more eye tests where it was concluded I was blind in one eye, and the connectors were not there for motor control of the eye. PHACE was so new that I don’t think they had a word for it yet or even some diagnostic criteria. Another big mystery came when I was around three and had severe migraines. My parents were told I was too young to have migraines but my mom and dad knew what it was. I’d spend days with one and even going to the ER for a few. I have had migraines since, and basically lived in doctors offices trying to figure out what caused them.
It was hinted a little later in my life that it may be PHACE syndrome because I have vascular malformations. I have no vascular pathways to my carotid arteries (except what my body needed to keep me alive), and in my brain I have connectors that were made to keep oxygen and blood flowing.
It was expected that I would not be able to speak well, talk or comprehend, and keep up with my peers. My case had been brought to my main doctors, and diagnosed by a doctor at the University of Utah. They would discuss all the symptoms I had to try and classify it and PHACE
I was 11 years old when I had my first angiogram and they fully confirmed it was PHACE. They had more of an understanding of PHACE syndrome by then, and wanted to be sure. It has led to me having angiograms every five years, and MRA’s every two to keep track of the four abnormalities in my brain that could one day burst and give me an aneurysm. I was told my vascular makeup in my head is the main cause of migraines but they still waver on each visit.
Oddly enough, I don't have to go in for vision appointments as I am blind in my right eye, but do have 20/20 in my left. I used to wear a prosthetic for structure support.
I was generally aware that nothing was the norm around age 8 but that was only superficially. I would say it to myself and others but it wasn't until I was in my teens when I’d have to explain to teachers, peers and other family members, what I had and the real details of my condition that I realized it wasn’t normal. I watched their expressions and even recently talking with my fiancé, they were shocked, speechless and super super concerned.
I'd always get the “that’s so scary” and “let me know when you’re feeling off and we’ll remove you from the situation to keep you safe” so at some point it also gets limiting. I tried out for basketball in high school and they denied me due to my brain and fear it would make things worse.
I’m very excited about the community. It has already given me so much support knowing others are going through the same things, or that I can maybe help parents or kids know that they aren’t just their diagnosis. The headway is amazing. I'm hoping it continues moving forward. I love the zoom interview and meetings (which I haven’t been able to make) but they are so great to have
I’m happy to provide more details on any area and I hope this gives you some information! I understand you’re a parent with a child with PHACE and I’m happy to help in any way I can!
I hope this community continues to grow and I can continue to be a part of a positive, supportive and understanding group. Thank you all for being so amazing!
Meet Mitchell
Hi everyone! My name is Mitchell. I’m a fourth year medical student at the University of California San Francisco. I have been working on a research project to study PHACE Syndrome in people ≥10 years old. The goal of this project is to understand how PHACE Syndrome impacts people in adolescence and adulthood. Working with PHACE patients and their families as well as the PHACE Syndrome Community has been an incredible highlight within my medical education.
I thought about becoming a doctor when I was young. My mom and my aunt were both diagnosed with chronic medical conditions when I was in elementary school. I grew up feeling the frustration that comes with unanswered medical questions, and I wanted to learn as much as I could to help people with similar experiences feel more at ease. At the same time, my mom was an audiologist for our local school district and always told stories about advocating for her kids to get individualized educations plans and hearing aids that would change their lives. By
observing both her own illness and seeing the impact that she had on young people in our community, I realized my interest in becoming a physician, and specifically one that cared for children.
When I entered medical school, I found inspiration in dermatology, as I could use my eyes to describe a condition in front of me and make a diagnose. In this way, I felt that it was different than other types of medicine. I also quickly saw that skin conditions can be incredibly impactful
on overall wellbeing. People with skin disease not only experience itching or pain; they also often deal with the challenge of other peoples’ stares or questions. I enjoyed being able to actually see what I was treating, while helping to build someone’s confidence throughout the
process.
I discovered pediatric dermatology (which was a perfect combination of my interests!) through a research project on infantile hemangiomas after my first year of medical school. I found research fascinating and was excited about in-depth projects that would focus on patient
experiences. The PHACE study was perfect, as it focused on patient interviews and questionnaires. I had the immense privilege to hear our participants’ stories and journeys. I witnessed resilience and vulnerability that will inspire me and my career for years to come.
I was also lucky enough to get involved in the PHACE Syndrome Community through this project. In Zoom calls focused on research or community building, I saw what an important role this organization fills for people with PHACE, researchers, and medical providers by bringing
everyone together to have conversations. Good research and good patient care starts when everyone can talk as equals about their questions and concerns.
Looking forward, my goal is to become a pediatric dermatologist and continue similar types of research focusing on life-long conditions. I am excited to follow patients over their lives to continue answering their questions and providing support.
Thanks for spending the time reading this! I again want to express my gratitude to the PHACE Syndrome community, PHACE patients and families I’ve met, and fellow researchers for providing such a rich supplement to my medical training.
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Read more stories of the families and individuals involved with the PHACE Syndrome Community.