Leonardo Xavier Labrada was born on February 8, 2013. He is the youngest of three siblings. He has an older sister (Samantha) and an older brother (Carlitos). From the moment we laid eyes on him, we were in love. It was an uneventful pregnancy. The delivery was serene and calm, as if practice made perfect. Leonardo was a beautiful baby with nothing out of the ordinary. He latched on for breastfeeding, no nystagmus, no stridor. As we were being discharged from the hospital, they performed the hearing test and he failed it. Within 3 weeks Leonardo was diagnosed with ANSD. By week 6, the Nystagmus showed up. By week 16, he was diagnosed with hypotonia. It was at this moment when we realized that all of our son’s ailments where likely symptoms of a more complex condition. It was as if we had been opening Pandora’s Box.
At 6 months we had our results after Leonardo had an MRI and blood tests done. He was diagnosed
with Pelizaeus Merzbacher Disease (PMD). The blood results came back with PLP1 gene
duplication in the xq21-q22 region. Most likely the classic form of PMD. Our neurologist had seen a
couple other cases in her 40+ year career. Luckily for us, she was quick to identify the symptoms
and request the exact genetic blood exam. The MRI results
were the cherry on top.
Is there a treatment? Therapy? A cure? What are the symptoms Will he talk? Walk? What is the life expectancy? Where are the experts? Other patients? What happens next? Questions and more questions and few answers. The one answer that prevailed was to love him, to cherish him, to make him live…while we search for more answers. As in the movie, Lorenzo’s oil (about a case of a child with adrenoleukodystrophy), we found ourselves researching every day and night. Spastic, quadriplegic, deaf, hypotonic, dysmyelenation, oligodendrocyte, these are words that we quickly became familiar with. They became part of our vocabulary. Words that started rolling off our tongues as if we were medical experts.
At 18 months, Leonardo has an infectious smile, a stare that touches your soul, a yearning for companionship, and a thirst for life. We hope we are up to the task to parent this special child. He enjoys eating, although does not gain much weight. He cannot walk, hold his head for long periods of time, or sit unassisted. He says a few words, and frequently seeks his favorite toy piano. He attends physical, occupational, and speech therapy on a regular basis. Leonardo is a jokester and enjoys playing pranks on his siblings and parents. We have faith that we will not just survive, but live. That this is like taking a vacation to an unplanned location, where if we take the time to look around, we will see the most beautiful sights, experience the most humbling and rewarding acts, and ultimately find peace.
Leonardo is allowing us to forge purpose. For his first birthday, we got our family and friends together to sign a song we had picked for him before he was born. It felt right to honor his first year with something special. The video has been uploaded to the following location on the web:
You are the medicine of our soul, son. We hope that someday when you get the wings of an angel, you not only walk, but fly. What life has in store for you, only God knows. In the meantime, we will love and treasure every minute of your life with us. Your contagious smile will give us strength to rise above every challenge, and our faith in God will give us hope that someday a cure will be found. We love you Leonardo.
February 8, 2013
Carlos & Yezebel Labrada
Samantha(older sister) and Carlitos(older brother)
San Diego, California
Within 3 weeks Leonardo was diagnosed with ANSD