Ten years ago our third son Austin was born. Everything about my pregnancy and his birth were completely normal and uneventful. He was born weighing 8 pounds and 8 ounces, with a beautiful round face, a dimple on his cheek, and five brown spots on his skin. The largest of these spots was six centimeters in diameter. This is an extremely rare way to be born. Most people who are reading this are aware that It is extremely rare to be born with a large melanocytic nevus. It is even more rare to be born with multiple nevi without a giant nevus. At the time I did not know any of this, and was told that these were just birthmarks, though larger than most, and just needed to be monitored by a dermatologist. I was not told, and I do not think the doctors at our local hospital knew, that people born with this rare presentation of birthmarks are at risk for developing severe complications.
Soon we noticed something unusual happening to Austin’s eyes. Sometimes his irises would seem to slip into his eye sockets and only the top of them were visible. It was very unsettling. I know now that this is called “sunsetting” because it looks like the iris sun setting behind the horizon. I also now know that this is a sign of hydrocephalus. In addition his forehead was developing an odd shape and seemed to bulge at the top. A visit to our pediatrician quickly determined that Austin had hydrocephalus. This resulted in an ambulance taking us to the hospital where an emergency surgery was done to place a tube called a ventriculoperitoneal shunt into Austin’s brain. This would be the first of four shunts he would have in his first ten years. Hydrocephalus is a rare condition that develops when cerebrospinal fluid in the brain is not draining properly. The shunt pulls the fluid that can’t be drained the usual way down into the abdominal cavity so it can be absorbed by the body. The pediatrician suggested that the hydrocephalus and the birthmarks could be related. We were stunned by this idea. It didn’t seem possible.
The shunt worked immediately. We could see his eyes again. A neurologist suggested that maybe the hydrocephalus was caused by a condition that he heard about at a conference called neurocutaneous melanosis (NCM) which means that pigmented lesions are present on the brain and spinal cord. After an MRI was performed it turned out that this was correct. NCM is a rare complication that is estimated to occur in 5-15% of people with large nevi. In most cases the lesions on the brain don’t cause any problems, just like nevi on the skin often don’t cause any issues. But in some cases they can prevent cerebrospinal fluid from draining properly and cause hydrocephalus. More commonly they can irritate the brain tissue and cause seizures to occur. Austin began to experience seizures around this time as well.
Because NCM is such a rare condition most doctors and hospitals, are unfamiliar with it. At this hospital they were convinced from the available medical articles that Austin’s prognosis was grim. We overheard a doctor stating it was “horrible,” and a nurse informed us that 90% of babies with this diagnosis die before they turn 3. The hospital staff gave us brochures about planning his funeral. However on a whim I did an internet search about NCM. I came across a group called Nevus Outreach that had an email support network. I sent out an email and immediately received several responses from people whose children had NCM, some with hydrocephalus, and they were still alive. I knew now although this condition can result in death, it was possible to survive and that gave us some hope.
Fortunately we were connected with the brain tumor team at Ann & Robert H. Lurie Children’s Hospital of Chicago. The specialists there have been our lifeline throughout the past ten years. They were familiar with this condition and although they agreed that the situation was dire, our neurosurgeon was reluctant to jump to conclusions. Austin required a second surgery to replace the shunt that was placed improperly and had a biopsy of his brain tissue to determine whether there was malignancy present. Unfortunately in some cases of NCM the cells can transform into leptomeningeal melanoma, a form of melanoma that originates in the covering of the brain. Austin’s biopsy was negative for malignancy. We were extremely relieved. The doctors agreed that this was likely to change over time, and that at some point the cells will transform and cause more problems.
At home he received physical therapy because of a severe delay in development. After two years he mostly caught up in development and could walk. When he was nine months old he began to have seizures and had them until he was two, when they abruptly stopped.
When Austin was 5, his shunt had to be replaced in his third brain surgery. The next year at age 6, Austin began to have seizures again. They continued despite trying several different medications. Anti-seizure medications can cause severe side effects. Austin was dealing with extreme mood issues from the medication, and despite all this the seizures still were not under control. From EEGs and MRIs it was determined that the seizures were coming from a lesion in the right temporal lobe. In 2016, he was evaluated by a neuropsychologist and it was determined that his memory was suffering due to the seizures. We began to consider the possibility of removing the lesion and therefore hopefully stopping or reducing the seizures. By the summer of 2017 he was having seizures daily and we decided to do the surgery. Austin has had the same neurosurgeon since he was one month old and we felt confident with him doing the surgery, although it was scary deciding to have part of his brain removed. The surgery and recovery were grueling. He continued to have seizures which was a major disappointment. In December of 2017 he was experiencing extreme headaches and nausea which led us to the conclusion that his third shunt was malfunctioning. He had another surgery to replace it. At this time his seizures have lessened and that is a relief. Austin has always been smart, hilarious and resilient. He has spent his whole life battling a condition that is essentially trying to stop his brain from working. In addition he has had to tolerate multiple medical procedures and take medicines meant to help him that cause him distress. It is hard for me to imagine what he is going through every day, to navigate pain and frustration that most adults have never had to manage. He is truly rare and amazing.
