Early Days Tragically, my son’s diagnosis was the result of a false negative test being discovered when he was 9 months of age. Later that same month, Christmas season 1988, he would be admitted for the first of many hospitalizations.
Mixed Blessings Duing the first three years of Brandon’s life, his mother (my ex-wife) and I lived in Cincinnati, OH. Noteworthy because, the quality of care was excellent at Children’s Hospital and there was a newly famous accomplishment by Dr. Marilyn Gadson who practiced there. She was Principle Investigator of a landmark clinical trial that established the role of daily prophylactic penicillin in SCD management. Published in the prestigious New England Journal of Medicine, this study was actually discontinued over a year ahead of schedule because the treatment arm showed a survival advantage that was irrefutable. Despite the quality of clinicians and clinics in Cincinnati, that my son would have been misdiagnosed as normal when he actually was positive for SCD, was devastating. Mainly because, my wife, at the time, and I had felt we “dodged a bullet”.
Providence or Random Chance? Due to a fertility threat, including a miscarriage, we were facing being childless in our mid 20’s. So we weighed the possibilities of bareness vs a SCD diagnosis. The chance of conception was estimated at 15% and the chance of a SCD diagnosis, we knew from the autosomal recessive Mendelian inheritance pattern, was 25%. Or less than 4% for both events occurring. Who wouldn’t take those odds. In fact, we, or I, was so confident that the odds were in our favor, that in utero testing was out-of-the-question. We were going to have him regardless of the diagnosis.
Meaning and Realization The month following his diagnosis, I began a 25-year career in the bio/pharmaceutical industry and ultimately became a patient advocate for rare diseases like SCD and other conditions. My personal and professional lives ave unitied in an arc that creates some degree of purpose for my life despite the pain and hardships.
In closing, my experiences include medical emergencies too numerous to recount, HCP and Clinic interactions that ran the gambit of quality and compassion. My son is a young man now and is adjusting to adulthood. And though disabled, he has a wonderfully positive outlook on life. After my marriage ended, I remained involved in Brandon’s life, overcoming many obstacles along the way. Through these challenges, I can relate to what caregivers face and am more than willing to help.