My husband and I found out that we were pregnant with a baby boy and were ecstatic! There were no complications in my pregnancy besides that our baby boy Jaxon was frank breech, so we had an ultrasound at 35 weeks pregnant to determine if I could deliver naturally or would need a c-section. At 35 weeks it was determined that Jaxon had dilated ventricles in his brain which raised concern. From that moment on, our guard was up. Like any other parent, we were worried about what was going on with our son and just prayed that everything would be okay. The next four weeks consisted of more ultrasounds, countless orders of lab work, meeting with a high-risk fetal medicine physician, and even a fetal MRI. It was decided that Jaxon would be delivered by c-section and have a brain ultrasound within 2 days after birth and a brain MRI at 3 weeks old.
Jaxon was born perfectly healthy and chunky. At his first brain MRI, they found a hypothalamic mass that was causing his dilated ventricles. We were then referred to genetics and a brain tumor team at Mass General Hospital. When we met with his oncologist, he stated that we will monitor his brain tumor every 3 months to watch for any growth. He also ordered tumor marker labs, referred us to an endocrinologist because of where the tumor was located. Every 3 months we went back and forth to Boston for Jaxon to have these scans performed. Jaxon was a unique baby, they diagnosed him with colic and stomach issues because he just could never calm down. There would be many nights and days where I felt helpless that my child seemed to be in pain because he had extreme sleep issues, did not calm down very often, and never seemed to be satisfied with the amount of food he was getting. At just 9 months old, Jaxon’s team decided it was time to intervene with his hypothalamic mass because it had what looked like “fatty tissue” surrounding it and he had a pineal gland finding that was steadily growing. He underwent a biopsy, and he was officially diagnosed with a hypothalamic hamartoma.
I share my story with you because this is not typically how a patient gets diagnosed with a hypothalamic hamartoma. Usually, a brain MRI with a specific protocol can be used to diagnose, but Jaxon’s story was a little different. Due to the pineal finding looking “mixed cell” (there was solid and also liquid in this finding) and also the hypothalamic hamartoma which is not supposed to grow but his grew a fatty tissue around it, this is why they decided to surgically intervene with the brain biopsy. Jaxon’s brain tumor team stated that according to ONLY research papers and books, having “two midline findings in the brain, a higher AFP than normal, and dilated ventricles” he would most likely be diagnosed with germ cell tumors which can be cancerous.
When he was diagnosed with this, his neurologist was very upfront and honest by telling us he did not have much knowledge on this diagnosis. He warned us about precocious puberty, gelastic seizures, difficulty managing his mood, diabetes insipidus, and potential learning disabilities. We however have our utmost confidence in his brain tumor team so we decided to stay with Mass General. His oncologist seemed familiar with this and always goes above and beyond for Jaxon.
Once we received the diagnosis, things started to make much more sense. And as Jaxon got a little older his symptoms started to show more frequently. When Jaxon was able to start eating baby food and having water, he seemed to be overly obsessed. He would drink over 80 oz of ONLY water a day if you let him, would seek water out in the tub and even in fish tanks. We also started noticing that Jaxon wouldn’t respond to his name, play with toys appropriately, mimic people or not make eye contact. He was soon diagnosed with autism. Jaxon does have what we call “laughing episodes” however his epileptic team has not officially diagnosed him with gelastic seizures because his EEG’s have not detected seizure activity and they wonder if it is autistic behavior. We continue to monitor this, but thankfully those “episodes” have become much less frequent. He has no signs of going through precocious puberty but does still have his labs drawn every year to check. He was also tested for diabetes insipidus, but this test also came back negative as his urine can concentrate. This past March, he had another brain biopsy to try to access his pineal lesion because it is continuing to grow. Unfortunately, it was not able to be accessed safely so we are still going to brain MRI’s every 6 months to monitor this.
Luckily, we have had SO many resources to help us out including Hope for HH. A fellow mom that lives near us has gone through this journey and introduced me to this community, so whenever I would leave appointments extremely confused for our future, I could discuss this with fellow families that have gone through the same thing. Jaxon received Early Intervention, ABA services and is now attending a special education preschool. He is an extremely happy little guy and one of the strongest people I have met in my life. Although we are still being monitored, we feel much better with the more knowledge we have. Our days and our life may look different than the typical family, but I would not change it for the world. Jaxon loves his snacks, exploring the outdoors, organizing his toys, his sensory swing, Mickey Mouse, and his sister. Not only has Jaxon taught us knowledge about hypothalamic hamartomas, but he has taught us patience, kindness, strength and so much more.
Luckily, we have had SO many resources to help us out including Hope for HH. A fellow mom that lives near us has gone through this journey and introduced me to this community so whenever I would leave appointments extremely confused for our future I could discuss this with fellow families that have gone through the same thing. Jaxon received Early intervention, ABA services and is now attending a special education preschool. He is an extremely happy little guy and one of the strongest people I have met in my life. Although we are still being monitored, we feel much better with the more knowledge we have. Our days and our life may look different than the typical family but I would not change it for the world. Jaxon loves his snacks, exploring the outdoors, organizing his toys, his sensory swing, Mickey Mouse, and his sister. Not only has Jaxon taught us knowledge about hypothalamic hamartomas, but he has taught us patience, kindness, strength and so much more.
If you think that you, your child, or your loved one could have Hypothalamic Hamartoma Syndrome, please check the Could It Be HH? section of the website to learn more about the diagnosis process and other things to consider. The HH MRI protocol can be found here. Unfortunately, Jaxon’s story was a bit different and his diagnosis was invasive.
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