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The Day I Set Sail in the Storm of My Son’s Pelizaeus-Merzbacher Diagnosis

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“And once the storm is over, you won’t remember how you made it through, how you managed to survive. You won’t even be sure, whether the storm is really over. But one thing is certain. When you come out of the storm, you won’t be the same person who walked in. That’s what this storm’s all about.” – Haruki Murakami

Leonardo is still very much alive. But in the world of rare, you are lucky to get to know the name of the gene responsible for your or your loved one’s future demise. Giving a name and a face to your enemy gives you the advantage to get to know him, prepare for his onslaught, fight him, and either beat him or hurt him enough that his next victim can finally defeat him.

It was the last Friday in September 2013. My wife called my office, “The nurse at the neurology department said the blood tests were inconclusive. They need to be redone.” I was flabbergasted and curious to know what that meant. I did not want Leo to go through another blood test, but would approve if more blood was needed to perform more genetic tests. I decided to call the doctor’s office and find out.

author's son Leo smiling
Carlos’ son, Leo.

The appointment at Rady Children’s Hospital-San Diego had been set for the following Wednesday. “Hi. I am Leonardo’s father. My wife just received a call about blood tests being inconclusive and I have some questions,” I said. A nurse then spoke to me and confirmed such a request had come from the doctor. I asked what was inconclusive about the test. She then confided, “Well, it seems she wants to repeat the test because there could be errors and wants to be absolutely sure. Let me ask the doctor.” I stared at my computer for the next couple of minutes. I had my hands on the keyboard wanting to type something, but I did not know what. There is a sea of knowledge at my fingertips. But there I was, not knowing where to set sail to.

“Stay positive against adversity. There is not a problem that cannot be solved,” my dad used to say. “This is another problem to be solved, and it will be solved,” I anxiously thought, fighting to stay positive. The nurse came back to the phone and told me to forget about re-doing the blood test and to just come to the scheduled appointment the following Wednesday. I could have said thank you and gone about my day. “What test was inconclusive?” I had to ask. She then proceeded to tell me the longest and most meaningless name I have ever written on a sticky note, something along the lines of Proteolipid Protein-1. I wish I would have saved it. This was my ‘X’ on a map. I had a place to set sail to and Google was my vessel. I browsed through the links and decided on one.

In the selected link there was a name of a disease. “Pelizaeus-Merzbacher disease (PMD) is caused by mutations in the PLP1 gene. There are more than 100 mutations in the PLP1 gene that cause Pelizaeus-Merzbacher disease. Several types of mutations are associated with the condition, and to some extent, the type of mutation can affect the severity of the disease.”

author's son leo looking at an image of DNA

I continued my search on Pelizaeus-Merzbacher disease symptoms and prognosis. “Clinical signs usually include some combination of nystagmus, stridor, spastic quadriparesis, hypotonia, cognitive impairment, ataxia, tremor, and diffuse leukoencephalopathy on magnetic resonance imaging (MRI). Seizures and perinatal stridor are rare signs and are typically seen only in the most severe cases. Severe Pelizaeus-Merzbacher disease is often fatal during the first decade of life, typically due to respiratory complications.”

There it was. Leonardo’s symptoms on the screen. His disease seemed to have a name. The more I searched, the more I was convinced my loving Leo had a progressive disease that will cut his life short and make his and my living days frightful.

Five days until the appointment. I wished I was wrong. I researched nightly on different pages, hoping Leo did not fit the descriptions. I clicked on all links from pages one through ten on Google. I daydreamed of options and new search terms to try as I drove. I stared at Leo for long periods of time and memorized his movements. I did not tell my wife. I kept it to myself for a few days.

I wanted an out. A cure. Something. A lifesaver. A lighthouse to give me navigational aid and guide me away from dangerous waters. I went for a voyage and a storm was brewing on my path. The feeling of loneliness and desperation is still unfathomable to this day.

A few years have passed since. The intensity of the storm subsides, but the desire to beat the rising waves has not. The search never ends just as much as the hope to get to the promised land is ever-present. I am sure that throughout this quest, new horizons and discoveries will be attained. Breakthroughs are made crashing against the waves for those you love the most.

son's feet in carseat
Leo’s little feet.

Follow this journey on: Loving Leo

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Originally published: April 29, 2016
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