Five years ago on March 10, 2005, my son, Michael, died at the age of 13 surrounded by me, his mom, and his dad and sister at the University of Minnesota. He had suffered a massive stroke following a treacherous 10-year battle with a rare syndrome called Schimke Immuno-Osseous Dysplasia, otherwise known as SIOD. Never heard of it? Neither did we until a cold, dreary day in January when everything changed.
Michael was born five weeks premature on August 1, 1991. Since birth he was always a bit smaller for his age, but his pediatrician kept assuring me that he would catch up one day. At his Kindergarten physical that same pediatrician started sharing my concern when he found that Michael had grown very little from age three to age five. That was the start of a two-year process filled with doctor appointments, blood tests, scans, biopsies, and hospitalizations trying desperately to make a diagnosis.
Every new doctor claiming to have the answers simply led us to more doctors and more specialists. One diagnosis seemed to lead them to another. One question always led to many more unanswered questions. One scan showed abnormal joint development, one biopsy revealed a kidney disease, and his body displayed the slow to no growth and an increased sway in his walk. What we thought was just a sway in his walk was really his hip joints degenerating, ultimately requiring a wheelchair. What we thought were cute little freckles on his face and chest turned out to be something called pigmented macules, which every specialist believed was a clue to this medical mystery. We lived in constant fear of what they would find next, yet at the same time hoping and praying for someone to be able to name this unknown diagnosis that was slowly crippling our son. What started out to be a few notes jotted on a yellow sticky note turned into a three-ring binder filled with pages and pages of medical information with one page more complex than the next and vital to helping these doctors and nurses care for our son.
The pieces of this medical puzzle never seemed to fit together logically or scientifically, which made many doctors and nurses skeptical when Michael required emergency room care. Often they did not believe me, Michael, or our complicated story, which resulted in frustration and inadequate medical treatment. It wasn’t until a doctor from the University of Minnesota was willing to take Michael’s complicated file and x-rays with her to every presentation she gave around the country did we eventually connect with a doctor from Canada who had a similar child with the same complicated medical history. Two years went by from that Kindergarten physical to when a diagnosis was finally made. The news that our son had a rare syndrome called SIOD was told to us by a young, female kidney specialist at Children’s Hospital in January 1999 while Michael played innocently with Lego’s in the playroom near by. That day our life changed forever. That day was the first day someone told me my son was going to die. That day was the same day this dream and vision was born.