In late August 2007, when Ezri was 8 ½ months old, a large mass was seen on Ezri’s MRI. We were rushed into an appointment with our hospital’s neurosurgeon a few days later. At this appointment we described the symptoms Ezri had been experiencing (the precocious puberty – we were still unaware the episodes we had been seeing were gelastics). We were told that although they didn’t know exactly what the tumor was – possibly astrocytoma/glioma/hamartoma – that she should have surgery fairly soon due to the risk of hydrocephalus (which she didn’t have) because the tumor was so large. The surgeon then told us that he would use a question mark shaped incision on the side of her head (I think he must have been referring to an Orbitozygomatic approach) and that she had an 80-90% chance of losing all pituitary function. Being so new to all of this, and feeling like we had been hit with a ton of bricks finding out there was this huge tumor in our baby’s head; Ben and I didn’t really know any better than to trust that this doctor knew what he was talking about. After all, he was a neurosurgeon. That’s why it was so good that my parents, whose careers had been in medical research, had come to the appointment with us and were not satisfied with what this doctor had said. UNC is not especially known for neurosurgery, but how were Ben and I to know that). From there, a family friend who’s an oncologist at Duke, got us quickly set up with a pediatric neurosurgeon there as a second opinion. This doctor was much more hesitant to do anything to Ezri considering how well she was doing developmentally. He suggested that if anything was to be done, it should be a biopsy from the top (endoscopic) to see what the tumor was; but even that he seemed to be reluctant to do right away. My husband’s stepmother (an operating room nurse) had worked with a highly respected adult neurosurgeon in Raleigh, and we made an appointment for a consultation with him. This surgeon didn’t want to operate at that time, but when he did would have used an OZ approach. He also thought the tumor was probably an astrocytoma or glioma, rather than a hypothalamic hamartoma. And then, we went down to Emory in Atlanta to see a very good pediatric neurosurgeon who was the father of my cousin’s friend. He didn’t know what the tumor was either, and didn’t want to operate because Ezri looked like a perfectly healthy and normal baby. However he did say more or less that “he didn’t think it was a hypothalamic hamartoma because he’d never seen one that large before and it would probably be the largest one ever” at 3.2 cm across its widest point. After all we’ve learned, I think now we all know that’s not true. So in a little over a month, we were hit with a variety of diagnoses, most of them pretty morbid, and new knowledge about just how dangerous an area of the brain this was for an operation.
My dad, hoping more than anything that Ezri did indeed have a hypothalamic hamartoma (because it was so much more survivable), read everything about HH that he could find in the medical literature in an effort to figure out what was going on. He emailed Dr. Jeremy Freeman in Australia who had authored a number of the medical journal articles. Dr. Freeman kindly responded, and we put Ezri’s MRI in the mail to him. Dr. Freeman looked at Ezri’s MRI, wrote back, and was the one who diagnosed Ezri as having HH. He pointed us in the direction of Barrow Neurosurgical Institution as the specialists in HH in the US – something we had already discovered through our online research. We sent Ezri’s records there for review. We also set up an appointment to visit the doctors there in January 2008 as we wanted to get to know the people we would probably be going to in the future for surgery. At that point it was a relief it was only HH – little did we know what that really meant when it’s a ‘giant HH.’