March 16, 2008 - New Diagnosis
Yesterday marked Arielle’s one month birthday, and what a month it’s been. After quite a few doctors appointments and tests, it has been determined that Arielle has PHACE Syndrome. This is a rare disorder linking a large, infantile hemangioma (abnormal mass of capillaries - usually of the face), and birth defects of the brain, heart, eyes and/or skin.
We believe this explains and gets to the bottom of all of her health issues to date, including a key one that emerged since our last update. We already know Arielle is afflicted with three of the four key areas PHACE affects, namely the brain, her right eye and most recently her skin. In utero, it was determined the key pathway connecting the left and right sides of the brain didn’t form. Shortly after birth, an ophthalmologist concluded she is blind in her right eye. About two weeks ago, a large, bright pink mark began appearing on Arielle’s face and quickly grew to encompass the upper right quadrant of her head as well as her lips and tip of her nose. That ultimately triggered a visit to a pediatric dermatologist who happens to be very familiar with the disorder and immediately diagnosed it as PHACE.
Needless to say, this has been a very tough month for our family, but not without progress. Arielle has been examined by a pediatric neurologist, ophthalmologist, dermatologist, radiologist and will likely soon see a cardiologist. She has had an MRI and needs other key tests (MRA, echocardiogram, etc.) to fully evaluate the situation and help make decisions for her future care. In particular, upcoming tests will focus on her heart.
Arielle has undergone a myriad of exams, poking and prodding, and proving to be one tough little lady with incredible strength and endurance. We are determined to see, understand, and appreciate this child beyond her health complications and luckily, her amazing disposition is making that one of the easiest things for us to do right now. She can fight like hell when she wants, but instantly forgives as soon as the discomfort dissipates. And to the extent the doctors can do their jobs while letting her stay in the safety and security of her family’s arms, she remains amazingly at peace. She is a very good baby, with seemingly advanced physical strength and precious nature.
Mary Alice has come a long way in recovering from the difficult C-section and associated complications. She still lacks stamina and strength, but is definitely headed in the right direction. And Travis has secured a good supply of lotions to treat his dishpan hands from all the housework he’s been doing.
We’re grateful to finally feel like the root cause has been identified and hope no more new “bombs” drop. We’re grateful for the meals, flowers, cards and notes of encouragement that keep the wheels of our world turning and sorry time doesn’t permit us to respond to everyone individually. We’re grateful for the spiritual support that has no doubt carried us thus far. We ask that you continue to keep our little one at the foremost of your prayers. Many thanks.