One in a Million

When you bring your baby home from the hospital, you think you have the most perfect beautiful child in the world. And nothing that anyone will say can change that...except when a neurologist tells you your 8 week old son has a brain tumor.



On Christmas night, Jeff and I took Evan to UCLA Medical in Westwood after observing several scary seizure like "episodes" over the previous weeks: freezing up and eyes rolling into the back of his head for about 10-30 seconds.

After 2 sleepless days and nights in the hospital, Evan had an MRI and EEG and was diagnosed by the chief pediatric neurologist as having a rare benign brain tumor (called a "lesion") of the hypothalamus, called "Hypothalamic Hamartoma," or HH. The odds on exactly how rare it is are staggering: approximately one in one million. We were lucky that the chief of the department was on call - he is only on 4 times per year and is the only doctor at UCLA who knows how to spot this condition. Almost always it is misdiagnosed as colic, epilepsy or an endocrine problem and therefore time lapses to allow further developmental and hormonal degeneration.

For an unknown reason, HH develops in utero early in pregnancy, and is a small mass of excess brain tissue on the hypothalamus - basically in the center of the brain. While there are a bunch of side effects, people don't die from this, it doesn't grow or mutate into cancer, and once removed it never returns. There are some challenging symptoms that may emerge, but every kid is different (making it hard to diagnose, so we were lucky in that respect.) Here is a good explanation of HH.



So far, he has the frightening eye rolling seizures a few times a day, often when he is asleep, falling asleep or sleepy. He also gets a baby version of the short gelastic "laughing" seizures (startle, then crying and/or laughing) that repeat in clusters of 3-4 rounds every hour or so, including during the night, waking him from sleep. When these happen, there is nothing that can be done, except to comfort him and wait it out. Two weeks ago he had them for 14 hours straight every 10 seconds and it required another ER trip in the middle of the night to get a heavy duty sedative to stop them and allow him to sleep. It was awful.



Not much about the progression patterns and path of HH is known since it's very rare. There are some scary behavior, and "cognitive degeneration" (mental retardation) that can happen as these kids age, but we hope to never get to that point. It will be a day by day journey. We feel it's an advantage going in knowing and being educated so we know what to watch for.

As for treatment, there is one hospital in the world that specializes in this disorder, Barrow Neurological Institute in Phoenix. Surgery and medication are both treatment options. We are trying different medications now but nothing seems to be working since none of them are specifically designed for this type of seizure. BNI has performed over 100 surgeries to remove the HH with good success rate. In many cases, especially babies, there is nearly a complete elimination of seizures and lower chance for the typical HH symptoms (although they have only been doing this surgery for a bit over 5 years, so long term impact is unknown.) Patients who experience this success are described as "reborn."

We have just gotten a referral there for an evaluation of Evan's medical records and MRI. We hope Evan will be accepted into treatment and ultimately for brain surgery when he is a little older (the youngest child on which surgery has been performed is 9 months.) BNI told us they thought Evan is the youngest diagnosis ever of HH. Our care will be supplemented locally by the chief of pediatric neurology as our doctor at UCLA. If we are accepted by BNI, we feel confident Evan will get the best care possible and hopefully will qualify for the surgery so he have the best chance to have as normal a life as possible.

This is probably enough for today. More to follow on how we've been holding up.

Note: follow-up post is here or you can click the topic below "hypothalamic hamartoma" for all posts on our journey to getting Evan to surgery.