Kenan Spencer Witczak was diagnosed with Krabbe leukodystrophy when he was 8 months old. Krabbe leukodystrophy is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system. The disease affects about 1 in 100,000 people in the United States, and because there is no cure, the treatment that is currently available focuses on supportive care. Children affected by Krabbe suffer greatly and typically do not live beyond their second birthday.
I recently did a photo shoot with my husband on behalf of Capturing Hope, which is a faith-based network of professional photographers offering complimentary photo sessions to families with children who suffer with the terminal incurable diseases of Krabbe and other leukodystrophies.
Kenan is a sweet 5-year old boy who shows no sign of slowing down in his ability to make his parents and older sister proud. His sister, Tamsen, is a sweet, bubbly little girl who cherishes her younger brother. She was 3 when Kenan was diagnosed, and her vibrant energy exemplifies her loving hopes for her brother.
A simplified explanation of what is happening to Kenan: Because of a mutation to chromosome #14 (one copy of the mutation was passed on from each of his parents), his body is not producing enough of an enzyme called GAL-C. In the process of metabolism, GAL-C is required for cells to eliminate waste. Because his cells are unable to eliminate waste, it is building up in his brain creating a toxin that is destroying his myelin. The myelin is the coating that surrounds the nerve. Without it, the signal between brain and muscle cannot get through.
There is nothing wrong with his cognition, his muscles, his organs, or even the signal; it is the conductor that is failing him. It begins with peripheral nerves (voluntary functions like moving arms and legs) then moves through the brain stem (involuntary functions like swallowing and breathing). Krabbe is so severe in infants because a baby’s brain develops rapidly during the first year of life, and myelination is integral to this process. Kenan produced enough enzymes to get him through the first 5 months of life when his body’s demands outgrew his ability to supply.
Every newborn is screened for certain diseases and disorders before leaving the hospital with a simple heel-prick test. However, only two states—New York and Missouri—screen for Krabbe. In 2007, the State of Illinois passed a law stating they would start testing for Krabbe along with four other lysosomal disorders as part of the mandatory newborn screening panel (NBS), New Mexico, and New Jersey have passed laws to include screening for the disease, but time is critical because the program has yet to become available to the public. Hunter’s Hope, a foundation established to raise awareness and education for Krabbe, has a link on its website where you can send a message to your state lawmakers stating that you support expanded newborn screening in your state.
According to Kenan’s mother, “If there were a cure for Krabbe today, it would need to be threefold to benefit Kenan: It would allow him to produce the enzyme, it would need to repair the damaged myelin, and it would have to remove the toxic buildup left behind.”
Despite the struggles that the Witczak family has weathered, they were a great inspiration to my husband and me, and we are glad that we were able to be a part of this rewarding experience. You can help Kenan’s family by visiting www.kissesforkenan.org and spreading the word about Krabbe disease.