A Journey So Rare

Mitchell Cupps was born August 5, 2004, weighing only two pounds, 11 ounces. His body was so tiny he could easily fit in the palms of my hands. Doctors told my husband, Troy, and I that a prenatal problem with the placenta was most probably the reason for Mitchell’s low birth weight and that he would spend the next few months playing catch-up. Not to worry, the doctors told us, and after 28 days in the Neo Natal Intensive Care Unit, we took our baby home. He now weighed three pounds, nine ounces.

Months later, Mitchell was still extremely small but he was perfectly proportioned. He didn’t appear to be catching up quite the way our doctors had promised. As parents, we knew something was wrong. As Mitchell started walking, he began to experience issues with his hips. His little chest barreled out. Our pediatrician consulted with specialists across Oklahoma about Mitchell’s condition, all of whom consistently concluded that Mitchell would be small but that he could be expected to live a long life.

Before he’d reached the tender age of two, Mitchell had been evaluated by more than 25 physicians. Troy and I, however, were not satisfied by what we heard. Mitchell wasn’t just small for his age, he was profoundly tiny. With no answers that would help us help our son, we set off to some of the best hospitals in the nation in search of a diagnosis.

Mitchell was two years old when we were told he had an unknown type of dysplasia. We were reassured that he would live a long life but would need alterations to accommodate for his small size, such as assistance and modifications with car pedals, counter tops, and other height-challenging issues. He also needed hip surgery. We traveled to the Alfred DuPont Medical Center in Delaware for the extensive procedure. As Mitchell was rolled into the operating room, he requested just one thing: Could he please have a Superman body cast? His doctor happily obliged.

In late 2008, Mitchell started to experience excruciating headaches. These headaches became so severe that they temporarily paralyzed one side of his body. A short time later, he began swelling in his face, legs and belly. All of these symptoms of Mitchell’s “unknown type of dysplasia” required multiple hospital stays, leaving in their wake a handful of baffled physicians. After test upon test upon test, and so many blood draws that doctors simply couldn’t take any more blood due to Mitchell’s size, we were told that Mitchell was now suffering from kidney failure.

“Don’t worry,” doctors once again told us. Short-term kidney failure is not uncommon in children and with medications they could correct his condition. We were relieved to know we were back on track to enjoy a long life with our blond-haired, blue-eyed boy.

The medication to correct Mitchell’s kidney failure, however, sent his blood pressure soaring so high he was now at risk for a stroke. Troy and I knew something was seriously, desperately wrong. There was nothing common here about Mitchell’s kidney failure.

We immediately contacted Dr. Michael Bober at Alfred DuPont, who began a search to match Mitchell’s symptoms of migraines, high blood pressure and kidney failure with Dwarfism. His call came in as Troy and I watched our child lay helpless in his hospital bed, hooked up to monitors, and puffy from his head to his toes. “Schimke Immunoosseous Dysplasia,” he told us. “It’s a rare and life-threatening diagnosis.”

After researching day and night, we located two physicians who had studied other cases of Schimke: Dr. Cornelius Boerkoel, a clinical geneticist in British Columbia, and Dr. Thomas Lucke of the Hannover Medical School in Germany. We were thrilled to be able to ask questions of doctors who had actually treated Schimke patients. What are the chances Mitchell has Schimke? What can we expect? How do we correct the kidney failure? Can we talk to other parents of Schimke patients? And, as I sat and cried quietly, I asked, “How long will Mitchell live?”

Their answers were grim.

After genetic testing by Dr. Boerkoel, he confirmed by phone to us that, yes, Mitchell has Schimke. We can expect that Mitchell’s kidneys will ultimately fail and he will require a kidney transplant, although the transplant will not cure him. We can expect that his low immune system will make him susceptible to illnesses that his body simply can’t fight. We can expect that Mitchell will have a high risk of strokes, hardened arteries, and the recurring migraines that physically debilitate him.

Troy and I sat speechless on the phone with two highly honored physicians who seemed a million miles away. We finally had our answer—our diagnosis—yet the tide of helplessness and hopelessness completely enveloped us. Both doctors went on to tell us there were only three other Schimke patients known in the United States. “Why is that?” I asked. They answered, because the life span of a patient with Schimke is only eight to 14 years and no Schimke patient is known to have offspring.

As I tell you about our journey—this journey so rare—the pain in my heart is so great. Imagining that our youngest son will never know the joy of a child his own, who will be in and out of hospitals for his entire life, and who may never see his 14th birthday is a reality too dark to describe. As a family, we had all accepted the fact that Mitchell would be a little person. We modified his scooter and bike so that they fit his body. We joined Little People of America so we could gain a greater understanding and knowledge of raising a little person and meeting other families with dwarfs. We envisioned what Mitchell’s car might look like when he became old enough to drive. We even dreamed of what his wedding would be like... and now this.

Hope.

A small slice of hope came when Dr. Boerkle contacted Troy and I a few weeks later to say that there was a possibility that a medication called Ataluren, which is currently being tested for Muscular Dystrophy, could bypass the gene mutation that Mitchell has. Dr. Boerkle asked if he could clone Mitchell’s cells to test this medication. Ataluren could potentially prolong Mitchell’s life by bypassing the gene that was causing his body to fail, and make him whole again. I held back a scream of excitement. “Yes!” I told him. “Yes, yes, yes, yes, yes!”

Through this process, we learned that the physicians conducting the research and gene mutation were working on their own time and using their own money and resources. Rare diseases such as Mitchell’s are grossly underfunded or simply overlooked. It’s easy to turn a blind eye to afflictions or circumstances that don’t directly affect you—until they do.

Our journey to a diagnosis has ended but our quest to save Mitchell’s life and the lives of other children born with rare forms of dwarfism has just begun. If you have been touched by what you’ve learned today about Schimke or Mitchell, I urge you to join our fight.