Leonardo Xavier, Family Story

My name is Carlos Labrada and my son Leonardo Xavier was born on February 8, 2013 in San Diego CA. Our youngest of three children. From the moments we first laid eyes on him, we were in love. He was a beautiful baby with nothing out of the ordinary. Lower weight than our other two children, but within the healthy range. He latched on for breastfeeding, no nystagmus, no stridor. We picked his name, got his pictures, completed all the necessary paperwork, and only the hearing test remained. That test sent us down a path we have not looked back from again. He was diagnosed with Auditory Neuropathy Spectrum Disorder (ANSD), later nystagmus, followed by hypotonia, and lately hypoglycemia. At around 6 months old an MRI and then a blood test provided the answers to our search. We went for a voyage and a storm was brewing on our path. The feeling of loneliness and desperation is still profound to this day. Death is a problem none can solve, but we uncovered its name as it lurked inside our son’s body: PMD (Pelizaeus-Merzbacher Disease). 

A search on medical journals about PMD provided us symptoms and diagnosis. It read: "Clinical signs usually include some combination of nystagmus, stridor, spastic quadriparesis, hypotonia, cognitive impairment, ataxia, tremors. Seizures and perinatal stridor are rare signs and are typically seen only in the most severe cases. Severe [PMD] is often fatal during the first decade of life, typically due to respiratory complications." This is a progressive disease that is going to cut our son’s life short and make our living days frightful. Our neurologist provided us with no lighthouse for navigational aide, nothing to steer away from dangerous waters. There is no cure, there are no medical trials, there is little to grab onto out there. But she did say make him happy. Love him. And that’s what we have done as we joined a Facebook community of parents, and later the PMD Foundation whose lighthouse symbol gives hope to future children and parents.

My brother-in-law passed away in 2017 at 43 years old, the same day Leonardo turned 4 years old. He had been diagnosed with CP all his life. After learning about PMD, I put two-and-two together, and a week before he passed away, he was given the PMD diagnosis officially. Leonardo has a cousin 3 month older than him, whom I helped get tested for PMD because he was not meeting his milestones and the family was told things will be normal by 18 months. He was diagnosed at 15 months with PMD. Our extended family has 3 boys affected with this condition. I also have a daughter that needs to be tested for PMD as a carrier. This condition has been, is, and will be a part of our lives.

During the same time that PMD was first discovered, 130 years ago, the world has been able to conceive ways to communicate around the world, fly through the skies and set foot on the moon.. Yet, my son cannot send a signal from his brain to his legs noise free. We spend most of our time traveling to therapies (physical, occupational, speech) and doctor appointments (neurology, orthopedics, endocrinology), that treat symptoms and attempt to make our sons' life a bit more about living. I have flown my son or reached out to experts in leukodystrophies in Northern California, Philadelphia, Washington, Japan, scratching for nuggets of information that can extend or improve my son’s life. I have put my son through the few available trials, therapies, or corrective surgeries. I have investigated options like removing his immune system and bone marrow through extreme chemotherapy, inject stem cells through his heart, spinal cord, or directly into his brain. His future will likely include spinal surgeries (like my brother-in-law) to add metal rods to straighten his back and reduce the possibility of future spinal breaks or bends that could puncture other organs. I am willing to put my son on a phase 3 trial with 90%+ chance of survival, hoping it will make my son's daily life functionally better in the long run.

Leo has already had a bilateral hip surgery and is likely to need it again. My brother-in-law choked on small piece of meat that required to puncture his trachea as a life saving measure. Botox injections, and a lifetime of pills to minimize his ataxia and spasticity are already a part of his life, while his future holds scoliosis, seizures, and feeding through a g-tube. Our daily routine includes hours of stretching, constantly re-positioning him from the couch, to his wheelchair, to his stander, to his activity chair, to his walker, to his bed, to lying flat on the floor. We learn to communicate with him through signs, sounds, and a communication device. We check his glucose and ketones weekly. We feed him special minced meals with soft consistency, we clothe him, and bathe him. We battle with insurance, doctors, and the school system to provide him the necessary support, which includes a one-on-one aide that is strong enough to lift him; outspoken enough to advocate for his needs; trustworthy to invade his private area and change his diapers, and hyper-vigilant so that he does not choke on his food or vomit. We give Leo 8oz of cornstarch every night like clockwork because otherwise the energy wasted by his tense muscles through the night will lower his glucose levels to the low 20s and 30s. We have had several of these scares as we carried his almost lifeless body to the emergency room. A regular cold affects his breathing, and we must stay alert through the night to make sure he is still breathing along giving him pulmonary therapy with our cupped hands. Humidifiers, nebulizers, air purifiers, and keeping a comfortable home temperature are all part of our daily life.

My son, Leonardo, is a mutant that could unlock discoveries in the study of myelin. Our lives have become a kind of Sherlock Holmes detective novel always in the lookout for signs of hope. As parents, we would gift our son our legs, our brains, our hands, our voice, everything until there is nothing else to give, if that would replace what he’s missing. We hold hope for a cure, and if not a cure, at least treatments that would stop or slow down the progression of his disease, specially help to avoid scoliosis and epileptic seizures and improve his communication. Our family would look to participate on trials that would not opt him out of future treatments. The question for us, will it be early enough to make a difference in our son’s life? Or on our daughter’s life, who could be a potential carrier. In the meantime, we will live, not just survive. We will love him until our dying days. Thank you.