One of my four sons, Koby Dylan, has a rare kidney disease called Fanconi’s Syndrome, and a metabolic/blood disorder called Cystinosis. After numerous emergency room and clinic visits at eleven, twelve, and thirteen months of age, he was finally admitted, tested, and diagnosed with the kidney disease (Fanconi’s Syndrome).
The doctors had said that it could have been caused by malnutrition, which would have been likely since he had been vomiting six to eight times daily, or from the rare, recessive genetic disease called Cystinosis—worse case scenario, prognosis unknown, no known cure.
After several weeks of waiting for the results, we were told that it was the devastating, horrible, monster of a disease. I was so distraught, not knowing what the future held for him. With his disease being so rare, even doctors were baffled!
It was a very challenging time. We were in tears daily and completely in the dark when it came to being educated about his diagnosis. They say that fear of the unknown is the worst possible fear one can experience, and I have to say that I believe this statement wholeheartedly.
No one knew anything because the disease was so rare. At the time of his diagnosis, we were told that there we only two hundred or so cases within the United States and Canada. Koby was one of five in the whole state of Texas.
The staff at the hospital where he was initially admitted was clueless in caring for him. Over three month’s time, he had lost from 17.5 pounds at thirteen months, down to eleven pounds at sixteen months. His muscles had deteriorated dramatically and his flesh was literally hanging from his bones. He had developed pneumonia, and several other nosocomial infections that were literally taking his fragile life away.
We began making phone calls to children’s hospitals across the country. We finally came across the Cystinosis Foundation where families across the world who had experienced this diagnosis with their own child were united. They reassured us that, even though this disease had been just recently discovered and the drug to treat this was just recently FDA approved, Koby would be alright. Although research had just begun seven years prior to Koby’s diagnoses, there was hope in the new medication to control the disease, but not cure it.
We had discussed his then present condition with the president of the foundation, who had called one of the leading researchers for Cystinosis in hopes that he would assist us in saving our baby.
Through tear-filled eyes, I watched this precious little baby boy while rocking him to sleep, stroking his baby fine hair, feeling his delicate breath on my neck, and feeling so very helpless as I felt his life slowly slipping away.
His doctors offered little hope, as if they had already given up due to lack of knowledge. They filled us full of horrible prognoses, and when we would ask about the disease, they simply told us to do the research ourselves in the library downstairs. Their comprehensions of his disease were just ignorant assertions, and they were perfectly content in treating my baby like a human guinea pig.
I lost myself in myriad of fragmented “what if” thoughts, consumed by the fear his doctors had exposed us to, regarding his life. A loud ring pierced through this haze of confusion, and snapped me back into reality.
With a stammering voice, I answered the ringing phone. The man on the other end introduced himself as a pediatric nephrologist who had spent six years researching Cystinosis. I will never forget the next two sentences out of his mouth.
“They are killing your baby! Do everything in your power to get Koby to Children’s Hospital of Dallas!”
Part 1 | (Part 2) | (Part 3)
