If I could give my boy, Benjamin Michael, anything in the world, it would be good health. Yet I know that is impossible: when he was eight months old, it appeared that he had delays, so I took him to our pediatrician. Our pediatrician, in kind, suggested that we see a specialist or a geneticist because he suspected something neurological was going on.
We then saw the geneticist as well as the neurologist. They took several rounds of blood tests; they wouldn't know anything until the test results got back, they told us. All we could do was wait ... and pray.
I held little Benjamin in our arms and cried, but nothing like we did when we got that horrible phone call. It was from our pediatrician. He told us to come to the office; he would like to discuss what they found about our son. He sounded very serious; the tone of his voice terrified us. We knew it had to be bad if we had to go see him at his office instead of telling us the diagnosis over the phone.
We gathered our son in our arms, put him into his car seat, and hightailed it to the medical clinic, where we then met Dr. Riley in his office. We were surprised to see the geneticist, Dr. Wilheimer, there as well. We were scared, very scared. We didn't know what to expect.
Dr. Riley then delivered the news. It was even more awful than we could have ever imagined. Our son, our beautiful red-haired, blue-eyed baby son, had a rare neurodegenrative disorder called Krabbe (pronounced like Crab-Ay). Krabbe disease (also known medically as globoid cell leukodystrophy, or GCLD) was an inherited neurodegenerative lysosomal enzyme disorder affecting the peripheral and central nervous systems of the body.
Children who had this disorder lacked an important enzyme known as GALC, that is needed for the production of normal myelin (white matter) in the central and peripheral nervous systems. Myelin is critical because it acts as a protective coveing of the nerve cells, much like the insulation that surrounds an electric wire. When the enzyme GALC is deficient, toxic substances are produced in the brain, causing myelin loss, change in brain cells, and neurological damage.
It is a horrible diagnosis. There has not been any effective treatment until just recently (more on that later) excepting for symptom management and/or pallative care, to make the child more comfortable as his or her symptoms worsened.
According to the manual we'd gotten upon learning Benjamin's diagnosis, there are four different types of Krabbe's disease: 1.) Early infantile, 2.) Later Onset Infantile, 3.) Adolescent Onset, and 4.) Adult Onset. Any of the forms are lethal, causing rapid deterioation of skills and physical abilities, including sight, speech, and the ability to walk, or even breathe or eat on his or her own, resulting in more advanced medical care as the disease worsens.
Most sufferers don't live past the age of four or even sooner than that, particularly if it's early infant onset or later childhood onset. Benjamin had Type I Krabbe Disease (Early Infantile Onset).
The pamphlet went on to describe the incidence of the disorder. It affected all ethnic or racial groups and in the US, one in 100,000 live births are affected with the disease. Approximately 2 million people (or one out of 125) in the US are carriers of the genetic deficiency that causes the disease. It is easy to diagnose (blood tests), yet as widespread as it apparently seems to be, awareness of Krabbes or any similar illness is very limited: not many people have heard of it.
As I said earlier, until recently, treatment was very limited (symptom management and pallative care), but now there is hope. There is a revolutionary treatment called a cord blood transplant that is saving the lives of many young children and babies. This new method is bringing new hope to those affected with a variety of diseases, including Krabbe globoid leukodystrophy or any other lysosomal storage diseases.
Benjamin's disease has progressed to where he can no longer walk or talk or even feed himself. He is in a wheelchair and in order to eat, he has a feeding tube in his stomach. He cannot talk: he communicates with his eyes or by making faces. He is also on oxygen because he is susceptible to pneumonia or any other respiratory illness. He is often in the hospital because he gets sick so easily; it is always a frightening time whenever this occurs.
Well, I have to run: Benjamin's alarm is going off. Hopefully it is nothing serious. I will write in here again soon; until later, this is Holly Michelle Quinley signing off. Just keep us in your prayers; this disease and its ramifications are getting harder and harder to live with!
~To be continued.~