I started having a suspicion that something wasn’t right when Crosby was six-months-old. His spine had a curvature to it, which I knew was unusual as my two other sons didn’t share the same anomaly. Crosby was also a late walker and sat differently than my other sons, so I knew something was wrong.
After discussing my concerns with various doctors over the span of one year, Crosby was diagnosed with Morquio A Syndrome, a very rare metabolic disease that occurs in one of every 200,000 births. Crosby’s doctors sent him to a metabolic specialist upon realizing he had symptoms of Morquio A, including hip dysplasia and kyphoscoliosis. The specialist made the initial diagnosis through a urine test, and a further diagnostic DNA test confirmed that he did, in fact, have Morquio A Syndrome. Although this was terrifying news, Crosby’s doctor explained that his other patient with the condition needed minimal help walking and experienced little pain, which gave me hope in a moment of fear.
We began Crosby’s treatment of weekly enzyme replacement therapy infusions through a port placement surgery at Children’s Hospital Orange County (CHOC) in November of 2017, and infusions started shortly after. The surgery to insert the port was initially nerve-wracking for me as I nervously anticipated our new reality as Crosby’s diagnosis became official. During the initial infusions, Crosby struggled as a team of nurses tried to insert the needle into his port. However, Crosby’s relationship with the nurses empowered him to be brave. They made Crosby feel in control of his experience at CHOC by allowing him to decide when he was ready to begin the infusions. Each week became easier as Crosby gained courage and strength.