Mom's Fortress of Solitude

A Story of Hope in the Face of Adversity

One of my four sons, Koby Dylan, was born with a rare kidney disease called Fanconi's Syndrome, and a metabolic/blood disorder called Cystinosis . Up until 10 months of age, we never knew anything was wrong with him. We thought he was perfectly healthy.

In this latter part of his first year, he became extremely ill. He was vomiting several times per day, had an incredibly excessive thirst, and would literally wet through two to three diapers in an hour's time. He was rapidly deteriorating.

After numerous emergency room and clinic visits at 11, 12, and 13 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 months time, he had lost from 17.5 pounds at 13 months, down to 11 pounds at 16 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 is was just recently FDA approved, Koby would be alright. Although research had just begun 7 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 a 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 6 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!" He went on to say that Koby should have been on a maintenance drug to keep the effects of Cystinosis from damaging other organs, along with several other procedures and tests that should have been administered.

It was a tremendous task to get him to the recommended hospital. I had the doctors in Dallas arrange to have him on a life flight as soon as possible. The only step required was to get his discharge papers.

His nephrologist fought me, tooth and nail, every step of the way. I was all packed up and ready to go, when she walked into his room and told me that she was refusing to release him. If we were to bring him to Children's, I would have to sign an AMA (Against Medical Advice) form, releasing her and the hospital from all liability if he were to pass away en route. She threatened that if I were to set on foot off the floor with Koby, she would get me for neglect and child endangerment, and the state would take him into custody.

She had called the MediVac personnel and cancelled his flight. She brought in a social worker from Child Protective Services and an armed police officer to deter me from leaving. We had to find a way out as his life depended on it.

Later that evening, I was pulling Koby around the pediatric floor in his little red wagon when I caught a glimpse of my childhood pediatrician. He had been promoted to be the Head of Pediatrics.

I frantically called to him down a long corridor, and he stopped in his tracks. As we walked toward each other, I broke down. I could barely get my words out when he asked me, "What's the matter, Angela?"

I finally choked down my emotions and explained the situation. He personally escorted us to his office where he made the arrangements to get us up to Children's as quickly as possible. He signed our discharge papers, and promised he would remedy the situation with Koby's nephrologist.

After being admitted to Children's, Koby's health drastically improved. The morning after we arrived, he had a biopsy on his stomach that revealed a severe milk protein allergy - something I had pleaded with his previous doctors to appraise since we had a familial history of this same sort. He was placed on several different medications, including the maintenance drug, placed on a strict milk free diet and switched to soy-based formula.

Within the first week of our stay, Koby had gained four pounds, the vomiting episodes were completely gone, and he was fighting his way to a second chance. I knew he was getting better, but my thoughts still centered around what his future held.

Within these seven months of hospitalization, though, I began looking around and witnessing the children with fates far worse than my own child's - babies having open heart surgery at one day old, the sweetest little 2 year olds with terminal cancer, babies dying in utero, babies dying shortly after birth. It was then that I turned my eyes to Heaven and thanked God for making our trial far less difficult to endure. At least we knew there was hope.

Even though Koby's fate is unknown, I'm extremely thankful that Koby has a chance; that he can live out his childhood as far as the Lord allows him into adulthood, praying daily that they find a cure.

His kidneys will eventually shut down completely and he'll need a transplant. The transplant will cure the kidney disease, and prevent him from having to take 17 medications every six hours, along with two subcutaneous injections once daily. He'll just have to take anti-rejection medications and the maintenance medication for the blood/metabolic disorder that caused the kidney disease in the first place.

He is above average mentally, making straight A's in school. The only way one can tell that he's sick is by knowing his age (9) and seeing that he's the size of a 3 year old.

He is my hero and my inspiration for all that I am and ever will be in life. I guess one true test of parenthood is having to watch your flesh and blood suffer through all the surgeries, needle sticks, and endless episodes of unbearable pain, feeling helpless, overwhelmed, and wanting to stomp every doctor or nurse who walks into his hospital room saying, "We need to draw more labs." or "We need to do another procedure on your baby."

Lately, though, it has become routine to him..it doesn't even phase him going to the doctor, even though he knows he'll have to get his blood drawn, or knows that he might have to stay in the hospital without warning. He just struts into the doctor's office, head held high like he owns the place, holds out his arm and tells them.."Ok, this vein is the one the gives the most blood..give it your best shot!" Kids are so resilient!

After experiencing all this, I seem to have more patience, a more "happy go lucky" approach to life's little mishaps, and a new-found respect for the blessings so graciously bestowed upon me.

He has taught me to view the world like a child sees a rainbow for the first time - awed by its majestic beauty, intrigued with its passionate variety of colors, and thankful that there is hope after a storm.

Koby is just taking life as he knows it (this life is all he's ever known). With his head held high and his feet on the ground, he keeps reaching for the stars as he makes his remarkable journey toward life, HAPPILY EVER-AFTER!

It is up to us as individuals to decide whether to turn these type of circumstances into grief-stricken, maddening experiences, throwing blame to God and rationalizing hate as our only option; or to utilize our fate to inspire others, humble ourselves, and make the world a better place. I choose the latter! ;o) If the world was perfect and people were flawless, then who would we be and what kind of existence would that be? Before we truly realize who we are, we have to first be at rock bottom...looking up. Only then will we be humble enough to exemplify patience, love, compassion, and understanding to all those who come into our lives and truly be gratified for having turned our trials into a gracious glory.

I do everything I can to instill in my children the values, beliefs, and morality my parents handed down to me, sometimes feeling as though what I'm doing isn't affecting them in any way. Then I witness, out of the corner of my eye, one of them doing something kind for someone, lending a helping hand, supplying a shoulder to cry on. It's then that I realize that they truly understand and I'm thankful.

"It is not the critic that counts; not the man who points out how the strong man stumbles, or where the doer of deeds could have done better. The credit belongs to the man who is actually in the arena, whose face is marred by dust and sweat and blood; who strives valiantly; who errs, and comes short again and again, because there is no effort without error and shortcoming; who knows the great enthusiasms, the great devotions; who spends himself in a worthy cause; who at best knows in the end the triumph of high achievement. And at worst, if he fails, at least fails while daring greatly, so that his place shall never be with those cold and timid souls who know neither victory nor defeat." -- President Theodore Roosevelt, Paris, 1910

The Greatest Gift of Love: A Christmas to Remember

Koby's Kidney Transplant

Koby's Uncle Joel (donor) visits Koby in the PICU post-transplant

On the 19th of December 2006, my brother donated his kidney to Koby . . . the best Christmas present EVER! Koby would turn 12 on the 31st of January with a new and improved life.

The first year and a half post transplant was a wild ride with 4 times per week trips to his specialist 75 miles away for labs and follow up testing. As of May 2008, Koby's labs have tapered down to once monthly, and we only have to venture up to Wisconsin every 6 weeks.

His quality of life has improved immensely since the transplant! Now, he only has to take 5 medications every six hours, his Gastric tube was removed, and he no longer requires feedings via machine or those awful shots. The new kidney has been such a tremendous blessing for him! He is now growing on his own and all those nasty side effects of the kidney disease are simply a thing of the past.

As of his last visit with the pediatric nephrologist in Milwaukee in May 2008, he has grown 11 inches since the transplant, and has almost double his weight! He is now physically close to peers his own age in height and weight, and even taller than some of his friends. We are so very blessed, as all the years of his suffering are finally over, and he is able to finally do everything he has wanted to do his entire life but couldn't due to the kidney disease.

Koby is now 13 years old, and he amazes me with his outlook on life, despite all the adversity he has had to face. He is such an inspiration to everyone who comes into his life, leaving his footprint in their hearts, and a newfound perspective in their minds. As I stated before he has always been, and always will be my HERO!

Koby and his Uncle Joel keep the staff on Children's Hospital of Milwaukee on their toes. These two brave souls keep each other and their doctors and nurses in high spirits as they recover over the Christmas holiday.