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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. 


Below is this week's community member weekly spotlight.

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Meet Melanie and Lydia
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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
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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. 

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!

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Meet Callan

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!

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Meet Kadence
Meet Mitchell
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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.

To submit your story for our Weekly Spotlight, please submit a 300-500 words along with 1 or 2 pictures.

 

Read more stories of the families and individuals involved with the  PHACE Syndrome Community.

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