Last week marked 30 years since my diagnosis day. So many emotions resurfaced as I reflected on the past three decades and all that has happened in terms of medical breakthroughs, challenges I’ve overcome, and how my prognosis has changed since I was first diagnosed. Back in 1991, today’s realities were nothing more than a daily prayer and an ember of hope.
I imagine SMA diagnoses are now delivered in a doctor’s office, but my story started with a phone call and ended with a house visit. My parents had noticed I wasn’t meeting normal milestones for a 3-month-old, so a series of tests led to an eventual muscle biopsy that would determine the cause of my symptoms. The news came on a sunny Saturday morning in April while my mom and dad were making pancakes and singing the singalongs my brother loved as a toddler.
When the phone rang, my dad answered. The voice on the other end was my pediatrician, who sounded disconcerted. Though my parents begged for an answer, my doctor couldn’t in good conscience deliver heartbreaking news to a family over the phone. He asked to come over to say those three words in person: spinal muscular atrophy.
SMA diagnoses were vastly different than they are today for reasons including a lack of resources, awareness, and research funding. This was the early 1990s, after all. People didn’t have the internet to Google things. Support groups hadn’t been established, and research for clinical trials and treatments had yet to have an effect.
With so many questions and so few answers, my pediatrician didn’t know what to say. My specific diagnosis, Werdnig-Hoffmann disease, was nothing but a paragraph in a dusty college textbook he had in his office from medical school. There wasn’t much insight beyond that.
My heart hurts so badly for my family when I think about the pain they endured as a result. I’m not sure I will ever understand the magnitude of the sorrow they experienced, but I imagine the news must have been unbearable. No parent should have to learn that their child likely will succumb to an incurable disease within their first two years of life.
As an adult, I see my diagnosis day as a testament to the strength and faith my parents have always held deep in their hearts. Behind closed doors, they let their emotions flow. But through the pain and sorrow, they had to stay strong for their son, who didn’t understand, and for their daughter, whose life they thought would be cut short. I will forever be in awe of the way they handled such devastating news. It gives me the strength to endure hard times of my own.
As for my pediatrician, I am grateful for the way he showed up for my family and supported us in any way he could. After delivering a grim prognosis for a life that was just beginning, he looked my parents in the eyes and told them he still believed in miracles. To this day, my dad still talks about that moment and how it influenced my mom and him to move forward as if each day were a miracle. The doctor’s words guided my parents through the darkest times, and I have found comfort in knowing they had something to cling to.
So much has changed in the last three decades, both in my life and the SMA community. When I reflect on it all, I grieve for the pain inflicted on my family from such a devastating diagnosis. I smile when I think about the profound faith that carried them through, and the pediatrician who cared about his patients. But most of all, I feel the purest joy and gratitude for this life I’ve been given.
Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, BioNews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.
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