Hypothalamic Hamartoma. That was certainly a diagnosis we weren’t expecting. We had never even heard of it, let alone worry about it affecting our new baby.
On the day that the prenatal ultrasound showed our third child would be a girl we also found out that there may be some health concerns. The ultrasound showed that her growth was restricted and there was something wrong with her kidney. My husband and I realized that things could be much worse so we tried not to worry too much. Within a week we met with a maternal-fetal specialist and began a series of tests. Preliminary results showed a high probability of Trisomy 18, a genetic disorder that usually results in miscarriage or still-birth. If children survive, they typically do not have a great prognosis and/or what is considered a good quality of life. The final testing came back negative for Trisomy 18, but there were still some concerns about the baby’s health. Her head was disproportionately small and the development of the brain didn’t seem to be progressing as expected. There were also concerns about her heart, but a prenatal cardiologist visit alleviated some of our concerns.
Zeta Christian Brabham was born March 5, 2010, weighing 4 pounds and 10 ounces – a full pound more than expected. Immediately, we were bombarded with an array of diagnoses. Each day seemed to bring something new. She had a non-functioning kidney, a cleft palate, narrowing in one of her nasal passages, coloboma of the eyes (essentially a cleft in the eye), some minor heart defects, possible hearing loss, breathing issues, and poor muscle tone. Within a couple of weeks she was clinically diagnosed with CHARGE syndrome, a genetic disorder affecting most organs of the body.
With all of the problems Zeta encountered in her first few days we were definitely on guard and constantly watching to see what else could go wrong. I vividly remember the first time I thought she had a seizure. She was about a week old. She seemed to laugh then her body tensed up and her eyes twitched and rolled back in her head. I questioned the doctors about it, but was assured that they probably would have noticed something on the monitor. My fears were calmed, but I still had that intrinsic nagging feeling that something wasn’t quite right. We had enough to deal with at the time, so I just kind of put it on the back burner.
Zeta was the most happy, content baby I had ever encountered. Although she was spending her introduction to life in a hospital being poked and prodded, she always smiled and laughed – a lot. Even when she was most sick, I remember always telling doctors something wasn’t right. They would assure me she was doing ok, “look she’s laughing,” they would say. Although she appeared to be laughing, what I saw was not happiness. The thought makes me cringe now.
When Zeta was four months old she started having some type of spasms. Of course, I researched it and watched videos and anything else I could do. I even taped some of the episodes and showed them to her pediatrician. After seeing the videos she immediately sent us to a neurologist for an EEG. It came back normal. This provided us little comfort because I was convinced there was more going on. Two days later we ended up in the ICU with uncontrollable grand-mal seizures, facial twitching and lots of involuntary smiling combined with the inability to breathe. Zeta went into septic shock from a UTI. Another EEG was done – it was normal- and the conclusion was made that the seizures stemmed from the 105 fever she had spiked. Once again, I was not convinced. Her seizures did not match the description of fever induced seizures. She had hundreds of uncontrollable seizures.
Over the next few months Zeta was continually readmitted for the same symptoms: fever, seizures that involved full body convulsions, facial twitching, involuntary smiling, oxygen desaturations and feeding intolerance. Most times the final diagnosis would alternate from pneumonia to UTI. Still, I knew something else was wrong. The urologist didn’t always agree that she had a true UTI, and depending on which doctor would look at the x-ray she may or may not have had pneumonia on different days of the same hospital admission. The one consistent thing we saw was the seizures, laughing, and breathing difficulty.
I was completely convinced that most of her problems stemmed from something neurological. The response I received from medical staff varied. Some believed it was neurological, but it was hard to prove. Some thought it had to do with the heart, and sadly I know that some just thought I was crazy.
Zeta was trached at 8 months. They also did an MRI of her brain. The results were tuber cinerum – hypothalamic hamartoma. The doctor told me that it was very rare and they didn’t know much about it, but it could be related to seizures.
I am the ultimate internet doctor. I became consumed with this new information. FINALLY, I felt validated in everything I had been trying to explain to the doctors. Zeta was having seizures. The weird smiling and laughing were seizures. The BEST part was – there was SOMETHING we could do about it. Most everything I read told me that there were two specialty centers in the world that dealt with HH – one in Arizona and one in Australia. “Well, of course we will go to Arizona,” I thought to myself. The only drawback was I that was still working to convince some of the doctors that we finally found another piece of the puzzle. Her main neurologist was great – he was reading and evidently finding the same information that I had read. Unfortunately, some of the other medical staff were still not convinced that this overgrowth of brain tissue was contributing to Zeta’s problems.
I’m sure at this point I became the neurotic-psycho mom. Zeta was put on a home vent at 10 months. When we weren’t in the hospital I would email her neurologist every few days with a detailed seizure log. I was constantly pushing for help. He was sympathetic, but I don’t believe he had the full support (and resources) of the rest of the team. After all HH is very rare. Most of Zeta’s doctors had never dealt with this type of lesion before – and with all of her other health issues – they felt the risk of doing anything at all was too great. Still, I pushed. No one ever directly told me I was crazy, but there were times I felt patronized and just knew that I was probably beginning to be labeled as ‘that parent’. You know the one that makes everyone cringe when they’re walking through the door. Not because I was rude or anything, but because I was full of ‘information’.
Each time they increased her meds we went through a honeymoon period in which the seizures decreased a little. By May I had had enough – Zeta had suffered more than enough. I couldn’t stand the thought that there was something we could do to possibly help her. I was tired of waiting. I contacted Barrows Neurological Institute in Phoenix, Arizona.
Zeta had stereotactic resection of the 1centimeter hypothalamic hamartoma at BNI with Dr. Ruth Bristol at Phoenix Children’s Hospital – 2,000 miles away from her home – in July 2011 at the young age of 16 months. We saw some small seizure activity the day of the surgery and two weeks later, on the day we landed back at home. There was definitely a drastic improvement. Zeta went almost seven weeks without ANY seizures. Unfortunately, we’ve seen some seizure activity emerge on and off the past two weeks, but we are still convinced that the surgery has made a HUGE difference in Zeta’s life.
To date, Zeta has had 20 hospitalizations, a dozen or so procedures, and has spent most of her life in the ICU. I am so very grateful for all of the doctors that have helped us along the way. We have been blessed to have many, many caring doctors, nurses, and therapists. Even during my crazed, neurotic, psycho-mom moments we were still blessed to be met with care and compassion. Since surgery, Zeta has remained out of the hospital for over two months – that is a true record for us considering she has never made it longer than a month! She is only on the vent for eight to ten house while she sleeps at night. We’re even doing some sprints without oxygen during the day. She is doing better than she has done since the ‘big’ seizures began 15 months ago. She has endured numerous blood draws, tests, x-rays, and genetic testing. All of her results continue to come back normal. For now, we’ll have peace knowing that we’ve done all that we can do (for now) and enjoy the days we have together as a family!