A Hypothalamic Hamartoma Journey of Discovery
The Beginning of Knowledge – Finding the Hypothalamic Hamartoma
I entered the world as a work in progress after only 32 weeks. Several personal anatomical anomalies, including extra digits, required correction then and throughout the following years.
I reached developmental milestones in my own time but eventually caught up with peers and even succeeded them at eight years old when I started early puberty. That transition is awkward for anyone, but especially when you are in fourth grade and the only baritone with zits. The endocrinologists prescribed Lupron, then available in only a large, painful monthly shot, and ordered an MRI to find the origin of the issue. The scan showed a hypothalamic hamartoma resting on the pituitary gland.
A geneticist noticed shared features between me and my father and also gave him an MRI, which revealed a large hypothalamic hamartoma. At that time not much was understood about HH. We worried if it would grow or become cancerous. All the symptoms added up to show that both my dad and I were one of the first few living Pallister-Hall patients.
Despite, or perhaps because of the physical challenges, I focused on school and performed well throughout my education. I won academic scholarships to college and began a pre-med program.
Learn more about getting a proper diagnosis here: Could it be HH?
Seize the Day – Hypothalamic Hamartoma Seizures an Adult
In my sophomore year, the HH issues started suddenly, perhaps triggered by stress and sleep issues (late nights and early mornings with chemistry didn’t work out well). During the first generalized seizure, I remember everything seemed so small and far away before I went to the ground.
Later I experienced focal and tonic-clonic seizures, wherein I would sense things like the floor moving or colored maps of exosolar systems on the ceiling. I would get out of bed confused, ask nonsensical questions, and then stop, drop and roll. Eventually, I had to drop out of school.
The doctors did EEGs and tried treatment for the hypothalamic hamartoma with anti-convulsive medicines with little success. In the process of investigation, I was tested for sleep apnea. The results showed I stopped breathing dozens of times per night. I started CPAP therapy, which made such a difference that I was able to return to school, albeit with a new major that didn’t require math.
Things Fall Apart – Full Hypothalamic Hamartoma Symptoms
Two years later I completed college and went on to grad school and then got married. A couple of years later I woke up with rigid muscles and difficulty moving. We believe it was a result of the first of many nocturnal seizures to come.
Then while driving a few months later I suddenly felt a euphoric feeling rise from my feet to my head. The sun seemed so bright and beautiful and I couldn’t stop smiling and laughing until a cascade of colors overwhelmed my head and left a heavy headache. The gelastic seizures had begun.
Around that time I started to get confused and forget things at my work at a university. Even though I had a graduate degree in literature, I could no longer read; the black letters looked like ants crawling on a page. When people gave instructions it was as if they were speaking in Chinese. In my mind, I often heard random phrases and dialogue shouted by a cast of characters like I was constantly stuck in a TV show I could not control.
I don’t remember much about that time. But that’s probably better. What my family does remember seems absurd: focal seizures in which I ran outside in pajamas to direct traffic on the road and stole knives at night to cut an imaginary cake. I got upset over little things and even got into a physical altercation once. At times I would get an insatiable craving to eat anything, even detested vegetables and objects like pillows. It continued until a big BOOM exploded in my head and left a crushing headache. Violent tonic-clonic seizures happened daily and progressed until I felt like an elephant had run over me and trampled out any strength.
Learn more about the symptoms associated with HH here: The Symptoms
Hope for the Future – Hypothalamic Hamartoma Treatment
My attentive wife eventually had to work from home to care for me. We met a local neurologist who listened to us and researched issues with EEGs, which were inconclusive, as is the case in many HH studies. The combined manifestations of multiple seizure types presented a struggle to treat with prescriptions. Finally, he told us that epilepsy was dangerously intractable and recommended surgery. What had seemed like a distant last resort had become a reality. We knew the risks but also knew the possible long-term physical and mental benefits that could be gained.
We were blessed to have neurosurgeon Dr. Robert Spetzler perform the surgery at Barrow in Arizona. His team resected around two-thirds of the hypothalamic hamartoma through an orbitozygomatic craniotomy, the only option available at that time. Removing the rest could have caused more damage to the visual and cognitive fields, so they didn’t take the risk.
Learn about treatment options here: Treatment Options
Find international treatment facilities specialized in HH treatment here: Treatment Facilities
A New Normal – Success After HH Surgery
Recovery took longer than I had anticipated. While the severity and frequency of seizures decreased, they still happened often. After six months, we considered gamma knife radiation for the remaining hypothalamic hamartoma but ultimately chose to wait. The seizures eventually settled down to a manageable mode.
Because of the constant seizures and surgery side effects, I went through months of therapies that helped improve my strength and motor skills and regain the ability to communicate and perform executive skills and visual concentration.
New Beginnings – Life as an Adult with Hypothalamic Hamartoma
Each year brought increased cognitive and physical abilities. We found the right medicine regime that stabilized me. At present, I have been free of major seizures for a couple of years. I’ve become aware of triggers like repetitive sounds or actions, strong emotions, dehydration, and changes in weather and health. When auras or undefined episodes occur I can sleep it off.
A few years ago my wife and I bought a house and had a child. I have kept busy with this and have been working part-time as a writer and ESL teacher.
Lessons Learned from My HH Journey
I am thankful for my faith in God and my supportive family throughout the years. In childhood, my parents adjusted to my problems without giving me guilt about them. My dad would make jokes and songs in the waiting room, while Mom would make medical events memorable with Happy Meals on doctor days or permit heaps of strawberry shortcakes during hospital stays.
Advice for Life with Hypothalamic Hamartoma
On your own HH journey, find a doctor who will take time to listen to you and work together with colleagues to investigate hypothalamic treatments. Learn to be your advocate and search for new procedures and medicines. Show and tell your family members you love them unconditionally.
Things may not make sense now, but that’s OK. Life may not always be like this. Cling to your support through faith and family and hold out hope for treatment.
Your Story Matters – Sharing your HH story with Us
The process of sharing this often difficult journey can be healing for both you and others in our community. If you’re interested, please complete this form and we’ll start the process.