The Backstory

Here’s our backstory:

When Leah was born, we noticed that her left eye seemed to be a bit swollen. A pediatrician at the hospital commented on a “little assymetry” in her face, but we knew that no newborn has a perfectly shaped head, and hers seems consistent with that. We expected the swelling in her left eye to go away within a few days, but it never did. We mentioned it to our pediatrician at Leah’s first appointment, within days of her birth, but we still assumed it was nothing to worry about. At her two week visit, however, it hadn’t gotten better. In fact, the swelling now seemed to be affecting her forehead a little more than her eye. Our pediatrician said it was most likely swelling from birth, and could still go away on its own. She did say it could also be a congenital ptosis, which is a swelling of the eyelid that would have to be corrected with surgery, or a developing hemangioma, which would be apparent after about a month and would last until Leah was five or so. Both options seemed just awful to me, and she set us up with information about a pediatric ophthalmologist in Syracuse to rule both out. She did also say that it could be a premature fusing of the skull, but that was quite rare. I remember she used the word “craniosynostosis” though I immediately forgot it because I dismissed that as an option when she said that it was rare. I still assumed it would go away on its own.

Over the next weeks, I kept watching her eye with much trepidation to see the first signs of an emerging hemangioma. I did a fair bit of online research about hemangiomas, but without seeing one on her face I couldn’t be convinced that’s what she had. I did google “swollen forehead in newborns” but came up with nothing—mostly reiterations that all babies have funny-shaped heads and strange bumps and flat spots which will take care of themselves with time. At one point, I came upon another mention of craniosynostosis, but it was accompanied by photos of babies with elongated heads at the tops or at the back—nothing at all like Leah’s forehead. So I again dismissed it.

A month after Leah was born, we went to a friend’s camp on the lake to celebrate July 4. I brought my camera and took several photos of her in a flag dress on her dad’s lap. That evening, when I was downloading the photos onto the computer, I noticed that her forehead was really swollen on the left hand side, and for the first time, I though that maybe this wasn’t typical and that we should worry after all. I made another appointment with our pediatrician for the next day, then went back to the computer and searched “craniosynostosis” again. This time, I began to read that there are actually different types of the defect, and after a few clicks, I came upon this photo:

 It took my breath away. It was an exact replica of Leah’s head, when viewed from the top. I showed the picture to David and said, “I think she has this.” When we met with our pediatrician, I showed her the photo, and she agreed. She told us that she would refer us to a specialist, so we went home to begin to research where to go. It seemed that the children’s hospitals in Boston and Philadelphia were treating this, and since we have family in Philadelphia and friends at Penn, we decided to start there. Our pediatrician called their craniofacial reconstructive department, while a family friend called to find out which doctors treat it. They both got back to us that afternoon, and gave us Dr. Jesse Taylor’s email address and asked us to send photos. We emailed the following photo to him:

He called us back within an hour and gave us an informal diagnosis: right coronal craniosynostosis. He explained that it is officially diagnosed by CT scan, but that he felt sure from the photo that she had this. He asked us to come to Philadelphia to meet with us the next week. At that first meeting, he put his hands on her head and confirmed his initial diagnosis, and gave us two options for treatment: the traditional CVR (cranial vault reconstruction) or distraction surgery. CVR would be done when Leah was about 10 months old, while distraction would be done at about 3 months. We also met with Dr. Heuer, a neurosurgeon who is part of the “cranio” team at CHOP, and felt after talking with him that we wanted to choose the distraction surgery (read more about it on the left…). We tentatively scheduled the surgery, and a return visit for a CT scan in mid-August.