Without a Word_ How a Boy's Unspoken Love Changed Everything - Jill Kelly [16]
Once we were seated Dr. Duffner explained what type of blood tests she took and exactly what she was looking for. She then proceeded to detail where Hunter’s blood work was sent, who tested it, and why. It was all very foreign to us.
Just tell us! Just tell us! I thought. What’s wrong with Hunter? What’s hurting him?
Finally, she said, “Your son has been diagnosed with a fatal genetic disease called Krabbe Leukodystrophy. There is no treatment for this disease and no cure. The average life expectancy for babies diagnosed with infantile Krabbe is fourteen months. Hunter will probably not live to see his second birthday. We can help you make your son more comfortable but—”
I had to interrupt. “What do you mean, there’s no treatment? There’s got to be something we can do—somewhere we can take him.” The thought of there being no help for our son—for Jim Kelly’s son—was unfathomable.
“There is nowhere to take your son because there is no one working on this disease,” Dr. Duffner explained. “He will need to get a feeding tube as soon as possible in order to eat, if that’s what you choose to do.”
Her words felt like daggers penetrating my heart, and they kept coming, one right after another. A feeding tube? What’s that and why?… What does she mean, if we choose to? We’ll do whatever it takes for Hunter. He needs to eat; we can’t just let him starve to death…. What is she trying to say? My mind was on overload, racing with questions, full of fear and confusion.
Dr. Duffner reiterated, “No one is doing anything for this disease. It is rare, and very few people know anything about it. Dr. David Wenger, a doctor in Philadelphia, assured me that nothing is being done anywhere. If you’ll excuse me….” She got up and walked to a desk in an adjacent room.
Though I was completely numb, I watched Dr. Duffner’s every move as she proceeded to pick up a phone and make a call. I couldn’t hear what she was saying, but I was very attentive to her facial expressions, gestures, and body language—it wasn’t good news.
After she hung up, she returned to the table, sat down, and explained, “That was Dr. Hugo Moser from the Kennedy Krieger Institute,” she explained. “He is a world-renowned doctor working on ALD–adrenoleukodystrophy—a different type of leukodystrophy. I wanted to ask him if he knew of anyone doing any type of treatment, even experimentally. He said no.”
She paused, then continued: “I’m so sorry. I will do everything I can to help your son. But the disease has already progressed so fast that I don’t think he will live much longer.”
As my mind tried desperately to process all the horrific news that had just been dropped into our lives, my body felt weak and lifeless. Tears started streaming down my cheeks and my head was throbbing. I sank into my chair as if I weighed a thousand pounds. It was hard to catch my breath; I felt as if my very life was being choked out of me.
This can’t be happening. Not to us—not to Hunter….
Jim remained very calm, not shedding even a single tear. I suppose he was trying to be strong for my sake.
Before we left the neurology office, Dr. Duffner gave us some additional information, and then we scheduled a preliminary appointment for Hunter’s feeding-tube surgery.
The ride home was horrible. The frustration and fear of the unknown weighed so heavily on my heart that I just wanted to run away and be by myself. Desperation like I’d never imagined swept through my body and bombarded my mind with overwhelming dread. What are we going to do? I thought as I stared out the passenger window. Isn’t there someone out there who can help us? My amazing, beautiful son is dying. This can’t be happening. It can’t be true.
Life all around us continued to rush by as we drove home that morning, helpless and hopeless. People were hurrying to and from