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 Rachel at 3 days old.  You can see a bit of the hemangioma
(thought to be a bruise) by her right eye

Rachel was born in Atlanta, GA on September 28, 2005.  She was born at 37 weeks gestation via c-section due to being in a breech position.  I developed pre-eclampsia which had me on bed rest for the last 5 weeks of my pregnancy, and the primary reason why Rachel was born 3 weeks early.  The birth went very smoothly and she was 6 pounds, 1 ounce and 18.5 inches long.

Rachel’s story actually starts a bit before her birth, though.  Being of “advance maternal age” (or 37 years old during the pregnancy), we decided to have an amnio.  During our visit, the doctor discovered something in the ultrasound that required some follow-up.  He told us that it appeared that Rachel’s heart was not in the correct position in her chest.  Usually the heart is located in a certain position above the stomach.  Rachel’s was in a different location, appearing to be inverted.  However, because of her size, we had to wait 2 weeks to see a pediatric cardiologist for another ultrasound.  During this ultrasound, and several additional ultrasounds during the remainder of the pregnancy, they determined that Rachel did, in fact, have what is called dextrocardia – her heart is developed normally, but is positioned on the right side of her chest instead of the left.  And, it points to the opposite side; in essence, it points east instead of west (that’s my non-technical term).  Oh, and by the way, the amnio results were normal!

Rachel had an echo right after she was born to check her heart and all seemed good.  She had a slight murmur, which is very common among newborns, but all heart sounds were normal and continue to be to this day.

Shortly after she was born (within a couple days), we noticed a bruise on the right side of her face, above her ear.  We thought it was from her position in utero and assumed it would go away.  Rachel was jaundiced when we were released from the hospital so we had a few trips to the doctor’s office in those first few weeks.  The bruise didn’t go away, and in fact, by 5 weeks old, seemed to be growing and getting more red.  We also noticed that her right eye seemed to be swelling.  By her two month check up her eye was not opening fully (eventually it wouldn’t open more than about ½ way) and the bruise was covering an area much larger than at birth.  The doctor speculated that she had a port wine stain or hemangioma, and suggested an MRI to rule out Sturge Weber syndrome, a seizure disorder associated with port wine stains on the face.  During this time we also saw an opthomologist and ENT to make sure that there weren’t any issues with Rachel’s vision and airway.  She had some staining in her throat, but otherwise was fine.

In December 2005, at 3 months old, Rachel had her first MRI.  We were suppose to be at Children's Hospital for about 12 hours, but it ended up being two nights and three days due to what was found.  We were told that Rachel had multiple hemangiomas in her head.  We were also told that she has malformed blood vessels in her brain.  The radiologist who read Rachel's MRI diagnosed her with PHACES syndrome. The following day, we agree to order a full body CT scan because we want to find out if there are hemangiomas growing elsewhere in her body. The CT scan finds multiple hemangiomas in Rachel's torso - at the top of the spinal cord near her neck, in her sternum, near her GI tract, and near her liver.  In addition, her carotid arteries were narrower than normal.  An additional MRA a few months later reveals that she is also totally missing her right vertebral artery - more vascular malformations. 

The first few months of Rachel’s diagnosis was a whirlwind of doctor visits, unsure of what Rachel’s future held.  But quickly we got into a pattern and realized that she was the most amazing little girl and we would deal with whatever happened head on.

 As of December, 2006 Rachel has been on oral steroids for a year and has had several procedures, including two rounds of laser surgery for the superficial hemangioma and the hemangioma in her eyelid, 3 or 4 rounds of MRIs and MRAs, and an angiogram.  But, we have been very lucky in that Rachel’s medical issues seem to be on the milder side of the spectrum with regard to PHACES.  She does not have any problems with brain development, and the hemangiomas are not near any vital organs or disturbing any functions.  We have to watch closely the vascular malformations, which have the potential to be Rachel’s greatest problem, but so far she is developing normally and blood flow to her brain is fine.