Michael's Diagnosis

I can remember almost every detail of that January day, which is somewhat unusual for me. It was the same room on the fourth floor at Children’s Hospitals and Clinics in Minneapolis that we had been in multiple times before for Michael’s nephrology (kidney) follow-up examinations. We had been seeing a nephrology team from the University of Minnesota at Children’s for almost six months following a kidney biopsy that diagnosed Michael with a kidney disease called Focal Segmental Glomerulosclerosis- FSG. Although this diagnosis didn’t completely explain all of the symptoms Michael had been experiencing, it was another step closer to understanding the complicated medical puzzle. Unfortunately, this particular type of kidney disease was progressive, which meant Michael’s kidney function would decrease over time, eventually requiring a kidney transplant at the University of Minnesota.

Relatively new to the nephrology team was a young and ambitious female doctor who became the main contact for Michael’s case. I could tell as she entered the room that day and began talking with us that she appeared somewhat nervous. Being with so many doctors the last few months I learned to not only listen to the words they spoke, but to also read their body language, which often spoke words they weren’t able or willing to say. Her body language told me that something was different today, that this was probably not going to be a normal nephrology appointment. She finished Michael’s exam in typical fashion by explaining all the lab results to us but then she asked if Michael could go and play with a nurse in the activity room because she wanted to speak to me and my husband alone. He was more than willing to end his time with the doctors and go play, so Michael gladly left the room. As the young nephrology doctor began to speak, I was distracted by the sound of the other nephrology doctor sitting in the room flicking his watch back and forth. I could also hear Michael’s infectious laugh as he played in the activity room located across the large waiting room that was empty now because it was well past 5:00pm. The doctors told us that the University of Minnesota team was finally successful in making a complete diagnosis of Michael’s multiple symptoms. His primary diagnosis was Schimke Immuno-Osseous Dysplasia (SIOD), and the kidney disease (FSG) was only one component of the primary diagnosis. What that meant was about to be abruptly explained.

My son Michael

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.

Time for a change

Three weeks ago, I quit my job. Believe it or not, in this economy I walked away from a secure, well-paying job within a large corporation to walk into the unknown. I was climbing the corporate ladder so to speak, working full-time with paid vacation. I was well-liked, respected, and fully vested. But I was wore out, tired to my core, and barely sleeping at night. I felt stressed all the time - not just by the stress of my job, but the stress of feeling torn between what I knew to be true in my heart and the fear of taking a bold leap of faith that I believed was being spoke into my spirit. I was also feeling the confusion of a life I once knew clashing with the possibility of a life I knew so little about. The words “I don’t know” became all I knew for sure.

So, I quit that job to follow a dream - not just a dream really, but a hope and a vision for the future. This is a vision for a much needed change in health care relationships, all driven by the experiences and suffering of a little boy named Michael. My friend sent me this quote a few months ago: “And the day came when the risk to remain tight in a bud was more painful than the risk it took to blossom.” The day finally came when I couldn’t remain tight in a bud for one minute longer.