PHACE Syndrome

What is PHACE syndrome?
PHACE syndrome is the association of a large hemangioma usually on the face or neck, in combination with one or more other abnormalities. Every infant diagnosed with PHACE syndrome has different medical needs. Some have mild symptoms while other have more severe symptoms. PHACE syndrome is uncommon but may have been misdiagnosed in the past. It affects girls nine times more often than boys.

PHACE is an acronym that refers to a group of abnormal medical findings, and when these occur in combination, the diagnosis of PHACE syndrome is made.

PHACE defined:
Posterior fossa- These are brain malformations that are usually present at birth. These brain malformations do not form after the infant is born.

Hemangioma- The hemangioma usually covers a large area on the skin of the head or neck (greater than 5 cm). The term "segmental" is sometimes used to describe these hemangiomas.

Arterial lesions- The abnormalities of the blood vessels in the neck or head.

Cardiac abnormalities/aortic coarctation- These are abnormalities of the heart or the blood vessels that are attached to the heart.

Eye abnormalities.

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This was the best definition I could find of PHACE. When G was diagnosed we learned she had other problems we weren't aware of. Part of her left side cerebellum in her brain didn't fully develop. This part of your brain is primarily motor control. It contributes to coordination, precision and accurate timing. Obviously, we began to worry about her physical development.

Also, we learned she was born without her carotid artery on her left side (everything deals with the left side of her body.) You know how you can feel your pulse on both sides of your neck? Well, you can't feel G's on her left side because she doesn't have one. She's completely missing her artery. G runs the risk of strokes and seizures because she doesn't have the full blood supply to her brain that the average person has.

We don't know what the future holds. Since PHACE is fairly new to the medical world there's no way to tell what will happen (or what we can expect) in her future. She is closely looked after and monitored by her amazing team of doctors here at UK hospital and still at Cincinnati Children's. Despite all of our worries and concerns, those who know G personally know what a happy, well- adjusted child we have. Meeting her you would never know the medical issues she has. She is so happy and such a joy to be around. Lots of children with PHACE have it much worse than G and I pray for those precious children daily. I also express daily gratitude for the healthy happy baby girl we have. Thank you Gattlyn girl for joining our family! We love you!

PHACE-ing our Future

I have been wanting to write about this for a long time, but I could never find the right words. First, it started as an issue of privacy. Why would I want everyone to know about my daughter's health issues? But as time went on it turned into an issue of just that...time. Suddenly I found myself wanting to voice my opinions (triumphs, frustrations, etc), but I didn't know how or where to start.

I want this blog to be an honest history of our lives so I want to share my honest feelings regarding all aspects of our lives. If I weren't being honest then whats the point of this blog? Also, I want other PHACE families going through what we go through to be able learn from us or share to us their own experiences.

So, I want to start at the beginning. Warning: this will be long and possibly consist of more than one post. I have a lot of catching up to do. This post is about the moment in our lives when we went from facing our future to PHACE-ing our future.

Pregnancy-

My pregnancy was happy, normal and healthy. At 20 weeks, the ultrasound of G showed a "bright spot" on her heart. We were told this was usually a sign of Downs Syndrome, but since she didn't have the other signs (that normally coexist with this) we were not to worry. We pushed it from our minds (as much as first time expecting parents can) and went on with the pregnancy. To this day we still don't know if the "bright spot" was simply just a fluke or some kind of sign of what was to come.

Birth-

G was born one day before her due date. She was loud, fat and perfect. I will never forget the moment I first saw her and the indescribable feeling I felt. I still get butterflies when I think back at that moment. Watching Tater become a dad in a matter of a second is another mental image I could never forget. She was so beautiful and seemed to check out healthy except when she cried an all white spot would appear on the left side of her face. It was odd to me and I can remember thinking it looked like Africa. Everyone (including doctors and nurses) told me not to worry. They explained it as "typical newborn splotchiness." I just knew that wasn't the case. I just knew it. Call it mother's intuition or maybe it was the Lord's way of preparing me for what was to come, but I knew that spot meant something was wrong with my precious baby.

If you look closely you can see the white spot stand out among her pink skin.

1 Week Old

I still remember with perfect clarity the day my pediatrician told me to "sit down." Those are words you never want to hear from anyone let alone a doctor (and especially only one week from having a baby when your hormones are raging.) She told me she suspected that her mark (which had turned a vibrant red color by now) was in fact a hemangioma. Normally they are harmless and are left alone to do their thing and go away on their own. However, G's was abnormally large. It covered most of her left side of her entire head. Starting at the back of her scalp, it covers the left side (including her ear) and down to her face. It covers her forehead and down to her eye (covering the eye lid.) The doctor told me there was nothing to be done for her. She said because of the size of her hemangioma we were to prepare ourselves for our daughter's face to become permanently disfigured and for her to possibly lose her eyesight in her left eye. We were to stand by and watch the damage be done without doing anything for her.

On the way home, I had to pull over from crying so much. I said a fervent prayer pleading with the Lord for us to find another way to help her.

Months 1-6

After that first appointment, it wasn't long until I got an answer to my prayer. I knew my daughter's fate was not going to be the horrible picture that doctor had painted. I refused to take her answer as the last word. I knew in my heart the Lord had other plans for her. Luckily, my step-dad being a pediatrician suggested the drug propranolol. Propranolol is a beta-blocker and it works by relaxing blood vessels and slowing heart rate to improve blood flow and decrease blood pressure. Only recently it has been discovered in the help of improving hemangiomas. This medicine has been such a blessing in our lives. G has been on it since she was 4 weeks old. Her hemangioma now looks as it did when she was started on the meds. The drug has "frozen" it in time. Actually, it has lightened up tremendously.

Meanwhile, G was having some heart issues as well. Because of the "bright spot" we saw on her ultrasound and the murmur that was heard when she was born it wasn't long before she was referred to a cardiologist. After lots of tests and evaluations she was diagnosed with an acute coarctation of the aorta and leaks in her mitral valve. Needless to say, this was just more worry added to the pile (it was growing more and more.)

The dermatologist she was seeing decided that her situation was just a little more than he could handle. It was time to refer her to the big leagues. I am forever grateful for his inspiration to do this. Finally, G was headed for an appointment with a hemangioma and vascular malformation team of doctors in Cincinnati. They are amazing! I highly recommend them to anyone seeking answers regarding hemangiomas or vascular malformations. This referral was the turning point in her life. After MRIs and countless other tests things were finally put together. Her puzzle pieces were beginning to fit. At 6 months, G was officially and without a doubt diagnosed with PHACE Syndrome.