My parents say it was another beautiful, sunny Saturday in April.
They had two perfect children, a boy and a girl, like they had always wanted, and they couldn’t wait to finally start a family together. However, the merriment that usually filled the room suddenly stopped on that sunshiny day when we received the phone call that would forever change the course of our lives.
At about 3 months of age, my parents started observing tremors in my hands and tongue. My mother still recalls going out to lunch with her friend and her friend’s daughter, who is the same age as I am, and watching how active and vivacious this little girl was while I sat motionless in my carriage. She wondered if this was just a fluke. Several days later, I was taken to my pediatrician for a routine checkup. He discovered I didn’t have any reflexes, and from there, I had a muscle biopsy.
It took two weeks for my parents to receive the results. Two weeks of sleepless nights, anxiety, and the constant painful reminder that something could be dangerously wrong with their new baby girl. Finally, the real diagnosis came on April 19, 1991.
Over the phone, my pediatrician requested to come over to deliver the news, and my mother begged him to tell her if I was going to die. In that very moment, she could feel her life beginning to fall apart. Then, he spoke those three words that no parent should ever have to hear.
“She will succumb.”
Anguish and heartache began to consume my mother while she tried grasping the reality of it all. My father kept a firm grip on his rosary beads and prayed while pacing back and forth in disbelief. Their new bundle of joy, their beautiful baby girl, was supposed to grow old. She was supposed to go to school, fall in love, get married, have children, and chase her dreams. But all of this came crashing down on this fateful day.
My pediatrician arrived at my home to further discuss the rest of my short life with my mother and father. In his slight accent, he explained how I had a rare disorder called spinal muscular atrophy, and due to its aggressiveness, he gave me, at most, two years to live. In those two short years, I would never walk, and my organs would soon fail as my muscles quickly atrophied. Bewildered, shattered, and angry, my parents pleaded with the pediatrician, trying to figure out if there was anything to do to help. He explained how rare of a disease spinal muscular atrophy is and how there is no cure in sight, but ended his explanation with something that would resonate with all of us for the years to come.
“She has a one out of 100 chance of living. But I believe in miracles.”
A few days later, my parents celebrated my 6-month birthday with a beautiful pink and white cake and family members by my side in fear that I wouldn’t live to experience a birthday party. On that day, they vowed to give me the happiest life, regardless of the little time the doctor said I had, and all the love they could give to me. They never let my brother or me see the tears shed. The time for that was behind closed doors. Despite all of the pain and fear bottled up inside, my mother and father held on tight to their perfectly imperfect little family.
Over two decades have passed since that soul-crushing day in April, and even though I’ve faced countless trials and tribulations throughout the years, I’ve also received an overabundance of joy and kindness that would trump any bad day. Although I have SMA, SMA doesn’t have me.
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 Services, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.