As I sit here thinking how to describe my experience as the mother of a child with SIOD, a million different memories wash over me. I think about how I’ve changed as a person over the last four years. How my entire family has changed. I think about all the other mothers and fathers who have struggled to find a diagnosis for their child—knowing something is wrong—and certain that once they know that diagnosis they can move forward to find a cure. Then I remember the blow that is dealt once the diagnosis is finally known and the illness is incurable.
To be honest, I have found myself on a permanent, emotional rollercoaster that doesn’t end. But I’ve also become stronger because of it. I look at life mostly in black and white. Not much gray in my thinking. Troy and I own and operate a physician billing company, so I understand how medical practices work. I know the rules, the processes, the diagnosis codes, how insurance companies pay, what they pay and what they don’t. Everything is precise. Everything has an order to it. Maybe that’s why it was so hard for me to understand that Mitchell had an unknown type of Dysplasia. Nothing fit in the hard-and-fast rules of medicine.
Before Mitchell’s diagnosis I went on a quest, most of the time through the night, to find an answer. I had to know what was wrong with my son. I had to figure out what to expect so we could stay ahead of whatever was coming our way. That day came for me on a cold snowy day in February when Mitchell was admitted into the hospital for kidney failure. The words we heard were so strange and foreign, barely pronounceable—Schimke Immunosseous Dysplasia, also known as SIOD—a rare and deadly disease would end my son’s life by kidney failure, a low immune system, or even stroke. The old saying is true, I guess. Be careful what you wish for. I had my diagnosis now and trading it was not an option.
Up until February, Mitchell had already endured hip surgery performed at Alfred DuPont in Delaware, which required him to be in a body cast for six long weeks, painful physical therapy, migraine headaches so severe they temporarily paralyzed one side of his tiny body, swelling in his face, legs and belly... all requiring multiple hospital stays with physicians that were simply perplexed. So to tell me my son has SIOD was a blow that frankly no mother is ready to face. Where was my hole to crawl into? I needed time to think. I needed a plan. I needed answers.
I stopped taking calls from my friends, family and coworkers. I just couldn’t bear to explain what Mitchell had one more time. I remember screaming at my mom on the phone in the middle of the hospital parking lot. “Poor Mitchell... It’s hard enough on him that he is small and now this? How could this happen?” And then the selfish question wriggled out. “Why me?”
Little did I know that the medications our local physicians were giving Mitchell to keep his kidneys from failing were actually harming him. His blood pressure skyrocketed, putting him at risk for strokes, which I later learned is another leading cause of death in SIOD patients. I soon learned that Mitchell’s diagnosis was so rare our local doctors were suddenly faced with a huge learning curve and treating him like any other patient with kidney failure could actually end his life.
During our quest to find a diagnosis, Troy and I made contact with Dr. Cornelius Boerkoel in British Columbia and Dr. Thomas Lucke in Germany. Both doctors have treated and conducted extensive research on other SIOD patients. They soon became advocates for Mitchell and shared their knowledge with our Tulsa physician, Dr. Christy Mayfield. She then took the lead and aggressively started appropriate treatment on Mitchell as an SIOD patient: five different medications and regular blood pressure checks (we took the crash course on this) to determine the right dosage. Talk about playing nurse, mom and educator all at the same time.
Now, there was no time to waste. Not a minute. I had to become more assertive with an illness that was holding me hostage. Hope seemed to slip away. All control over my life was gone... or so it seemed.
When Dr. Boerkle called us a few weeks later to say there was a possibility a medication called Ataluren, which is currently being tested for Muscular Dystrophy, might bypass the gene mutation Mitchell has and prolong his life, my heart soared. Dr. Boerkle would need to clone Mitchell’s cells to test the medication.
Through this process, Troy and I learned that the physicians conducting the research and gene mutations were working on their own time, money and resources. Rare conditions such as Mitchell’s are grossly underfunded and overlooked. The plain and simple truth is that money is delaying the research to determine if Ataluren could save my son’s life.
Then I realized something very humbling. It wasn’t just my son’s life this research, testing and medication could save. Through many online searches, blogs and Facebook, I met hundreds of parents who were in the same situation as we were. They had a child with a rare form of dwarfism; children who didn’t “fit” into known categories. I met mothers who were lost and confused and helpless, just like me. They can’t afford the medications or the travel expenses to medical facilities that specialize in their child’s form of dwarfism. Little things, such as bikes or wheelchairs specially designed to help mobilize their children, are expensive and not covered by insurance.
I’ll never forget when one of those mothers contacted me. Kim Baker is a member of Parents of Little People (POLP). She’d read an article in The Tulsa World featuring Mitchell and his passion for Taekwondo. She welcomed us into the group and more than a dozen mothers shared their personal stories with me. We all faced different challenges, because our children were all different. But then I realized we were actually all the same. Although our differences separated us from those with traditional dwarfism, we were given the most special children of all.
For those who are blessed to receive a smile from Mitchell, I am most certain he leaves an indelible mark on their lives. This little boy has an almost Herculean power to make people forget their most trivial problems. He is a gift to everyone he meets.
What I do today—what we do today—will impact not only Mitchell’s future but the future of every child born with the rarest forms of dwarfism. Their lives matter, not to just us mothers and fathers and sisters and brothers, but to the world. Our responsibility lies in more than just the care of our own child. We must become educators and warriors and the loudest of voices to demand the funding of medical research and testing that can save our children’s lives. We must share information with each other and help each other. We must network and seek out those who have the power to put our situations in the spotlight.
Yes, I still ask, Why me? Who am I to help others? I can barely help myself right now. Mitchell is and always will be the little boy who touches the lives of everyone around him. He never asks, “Why me?” Our family knows that Mitchell will never be the most valuable player on a football team. He’ll never be the fastest runner. But we also know that it’s up to us to make the most perfect life for our beautiful children.
Most importantly, I know now that this could very well be my calling in life—to not only do everything I can to prolong the life of my son but to help others prolong the lives of their children.
You may send Michelle an email at: Michelle@LittleGiantsFoundation.org