The Hypothalamic Hamartoma Diagnosis (continued)

¬†She said, “Little girls only bleed down there for two reasons, either from sexual abuse or a brain tumor.” I felt like I had been kicked in the stomach, I couldn’t catch my breath. I knew it wasn’t sexual abuse. I worked from home and had a babysitter come to the home to watch Grace. I was never further than a room away from her. These moments were like walking through a dream.

The pediatrician sent us for a bone age test and a uterine sonogram. The bone age indicated a 2.5yrs versus her chronological age of 15 months. The sonogram showed her uterus was maturing to puberty. With this information, the doctor was confident that she indeed had a tumor and would need an MRI to confirm. This was the first time we heard the term ‘hypothalamic hamartoma’. She told us to go home and begin searching the internet for any and all information we could find. When we got home and began searching we found very little information, with the exception of a single support group and a hospital in Arizona.

Grace had an MRI within the week and it showed a huge tumor, hypothalamic hamartoma, measuring 3.6 x 3.0 x 3.0 cm. We were told this was causing the precocious puberty and the bone age issues. We were informed seizures and behavioral problems can also be a symptom, but at the time we believed she wasn’t having seizures and definitely had no behavioral problems. We felt lucky the only symptom she had were treatable through a monthly Lupron injection.

Within a couple of weeks we sent Grace’s records to Barrow Neurological Institute (BNI) for inclusion in their monthly review of new HH cases. The team reviewed and recommended no surgery as Grace was not having seizures and the precocious puberty was treatable. Again, we felt blessed our Grace had been spared the more debilitating symptoms of this condition.

By the end of May 2005, we began to see little ‘episodes’ during the day. At the time we were terrified to actually identify them as seizures as if calling them ‘episodes’ would change them from being what they actually were, seizures. Over the next several months, the ‘episode’ frequency increased, we were beginning to see a pattern in what triggered them and noticed they seemed to be impacting Grace more and more. Grace’s seizures were triggered by any extreme onset of emotion. It could be the overstimulation of having fun and giggle, the startling effect of falling while playing, or startling of a loud noise or unexpected movement of an object near her. By the end of 2005, Grace was having more than 14 gelastic seizures per day and multiple complex partial seizures per week. Grace was put on Keppra and Tegretol and although they did not stop all the seizures, they did decrease the frequency. Her quality of life was beginning to suffer as a result. She was beginning for the first time to show the cognitive impact of the seizures, particularly in her expressive speech and was spending much of her day in ‘recovering mode’ as a result of seizures.

In April 2006, we asked BNI to re-evaluate Grace’s records as a result of the seizure increase and the cognitive decline. Due to the increase in seizure frequency, addition of seizure types, and the cognitive decline, Grace was now considered a candidate for surgery if we decided we wanted to pursue it. Perry and I felt we needed to give the medications a chance before moving forward with surgery.

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