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By John Hanchette

OLEAN -- When Hunter Kelly, 8, the son of popular Buffalo Bills Hall of Fame quarterback Jim Kelly, died recently from an exceedingly rare and lethal genetic disorder called infantile Krabbe disease, most of the regional stories of his funeral in Hamburg either ignored or buried deep within some uplifting news.

Impressive progress on treatment and possible cure is being made -- partially due to research sponsored by Kelly and his wife, Jill, and flowing in significant part from their foundation, Hunter's Hope.

Jim Kelly, of course, is a regional sports icon -- but more importantly a national idol to all those sports fans who moved out of economically depressed Buffalo and Western New York to find jobs in the last two decades. The exodus was so intense that most major American cities -- and some podunks -- feature sports bars that on Sunday afternoons show the Buffalo Bills games exclusively and draw large crowds of whooping former Niagarans and Buffalonians and Lockporters and Oleanders who have kept their allegiance as Bills fans. Usually a framed and autographed Jim Kelly jersey is near the biggest TV screen.

Unlike most of today's overpaid swollen heads who play pro sports and treat their fans like serfs, Jim Kelly was unflinchingly polite and convivial to youngster and adult alike, should one happen upon him in the stadium parking lot or one of his favorite restaurants in Ellicottville or downtown Buffalo or elsewhere. (And don't send me nasty Scott Norwood letters about the four Super Bowl losses. Kelly was the toughest and most talented sumbitch to play the position for the Bills -- even better than the great Razorback Joe Ferguson -- and at least Kelly got us there on sheer guts and talent. Besides, the "almost there" aspect of the Bills' exciting but ultimately futile efforts is the story of Everyman and American Life, and is literary in scope and nature. It is a lesson in Uber Perseverance overcoming Uber Frustration. It is one of the ultimate sports stories of fiber and courage and persistence in a genre that routinely celebrates all three.)

Most of Hunter's obits didn't mention he was born on his father's birthday -- Valentine's Day -- in 1997. It's a miracle the child lived as long and full a life as he did.

Kelly and his wife had their new son tested as a newborn and he appeared the typical healthy baby boy. But by 3 months, Hunter was very irritable and screaming most of his waking hours. The pediatricians said he had colic -- a typical misdiagnosis when a baby cries all the time. The parents consulted specialists. By the end of June, they had the crushing bad news.

Hunter suffered from Krabbe disease -- a death sentence. Most infants afflicted with Krabbe in 1997 didn't pass 2 years of age. The odds your baby won't have Krabbe disease are at least 100,000 to 1 -- favorable enough to turn some parents bitter with the thought the deities must have selected them for this terrible genetic lightning. Not the Kellys. Hunter's parents kept faith and hope, and eventually affected for the better the lives of many other sorrowed, suffering parents.

With the help of Jill's family in Attica, N.Y. -- the Waggoners -- the Kellys formed Hunter's Hope, and in the intervening years have raised about $4 million for promising medical research.

The fatal process of Krabbe disease is particularly insidious. Named for a Danish neurologist who first described the terrible condition in 1916, Krabbe disease causes a progressive loss of both mental and physical skills in the development of an infant. Here, rather simplistically, is how it works.

The mental and motor deterioration in the infant is caused by loss of portions of the myelin sheath that protects neurons in the brain and spinal cord and peripheral nervous system. It is due to a deficiency of an enzyme called galactocerebrosidase (GALC).

There are about 40,000 different genes carried by a human being. Everyone, it is thought, has a few faulty genes or more. The genes are arranged in pairs -- one from each parent -- on 23 chromosomes. To pass on Krabbe disease, each parent must carry a faulty gene controlling GALC -- even though both parents are healthy. The risk of Krabbe is about 25 percent in each pregnancy if each parent carries the faulty gene.

In nerve cells, the long, thin structure which transmits a signal or "message" from one neuron to another cell is called an axon. Myelin is the protective covering -- containing certain fats or lipids -- and it insulates the nerve cell. Myelin is formed, broken down, and reformed over time as the axon grows.

In this reforming of myelin, the normal breakdown process of the old sheath produces a by-product enzyme called psychosine, which is very toxic to human cells. Psychosine is not usually present in the body in more than trace amounts. When it is -- from the synthesizing of new myelin -- it needs to be degraded by an enzyme. In a normal body, GALC does that. Good GALC breaks down bad psychosine. No problem.

Thus, if you have a shortage of GALC enzyme, you have a problem.

The accumulation of these built-up fatty substances that are normally broken down and eliminated damages nerve cells in both central and peripheral nervous systems -- destroying some and preventing repair of others. Brain and nervous system cells are stripped of their protective coating.

According to the Institute of Child Health, the "normal transmission of messages between nerves" is interrupted and vital messages to various parts of the body will be blocked until they do not work efficiently, "even though the parts themselves seem quite healthy."

As mentioned, many pediatricians don't recognize the infant's symptoms.

The baby begins to feed poorly. The baby begins vomiting and losing weight. At about 5 months, skills that have been learned and exhibited begin to disappear. The infant is startled easily. Muscle tone tightens, and the baby frequently goes stiff and arches. Muscle spasms and seizures occur. Vision deteriorates. Unexplained fevers come and go. Cognitive functions disappear. Often, chest congestion increases. Chewing, coughing and swallowing become more ineffective. Deafness often sets in. Deterioration is rapid, and the average death for infantile Krabbe occurs at about a year-and-a-half.

Until recently, any treatment was of symptoms. Muscle relaxants and pain relievers and sedatives were common. Anti-infective medicines were commonly applied. Physiotherapists exercised stiff limbs.

Now, for the good news.

With Hunter's Hope and other funding, researchers are making terrific progress.

At Duke University Medical Center and the University of North Carolina at Chapel Hill, medical pioneers are learning how to use umbilical cord blood transplants to prolong lives.

Blood from the placenta and umbilical cord -- called cord blood -- is rich in stem cells, progenitor cells that hold the potential to morph into several tissues in the body.

This summer, two months before Hunter died, the "New England Journal of Medicine" published a study of the first 25 patients to receive such cord blood transplants, which follow chemotherapy to wipe out existing bone marrow so the infant can get a fresh, new blood-building system.

The goal is to have all of the cells that control the blood contain the GALC enzyme the baby was missing.

The trick is to transplant blood into newborns who test genetically susceptible to Krabbe but have not yet developed symptoms. Each of the 25 is still alive. The oldest is more than 6 years old. Most newborns treated before the onset of symptoms show age-appropriate mental and language skills. More good news is the increasing ability to discover early and heretofore undetectable brain cell lesions that indicate the disease, allowing successful intervention. Progression of symptoms becomes irreversible quickly, so early diagnosis is critical.

The researchers have also learned that umbilical cord blood -- easily obtained from discarded placentas following childbirth -- provides faster correction of enzyme deficiencies than using adult bone marrow, and is more likely to repair deficiencies in both peripheral and central nervous systems.

These are important factors when you're treating infants, where big developmental milestones occur during the time frame of treatment, according to Joanne Kurtzberg, the Duke scientist who pioneered the process and senior author of the "New England Journal of Medicine" study.

Dr. Maria Louisa Escolar, the UNC professor and lead author of the study, said the results indicate umbilical cord blood can be used to treat about 40 other rare and fatal diseases featuring inherited enzyme, metabolism or blood defects.

So, besides remembering Jim Kelly for heroic exploits on the gridiron, you should remember him and his wife for doing something almost unheard of these days when tragedy strikes. In lame football terms, they took a fourth and long situation and scored a touchdown. In other words, they refused to give up -- they fought back.

Hunter's Hope has also helped with generous grants for promising gene therapy research at Mt. Sinai School of Medicine in the Bronx by Dr. Miquel Gama-Sosa, his wife, Dr. Rita De Gasperi, and Dr. Gregory Elder.

If you want to find out more about the foundation, hit the Internet at www.huntershope.org.

John Hanchette, a professor of journalism at St. Bonaventure University, is a former editor of the Niagara Gazette and a Pulitzer Prize-winning national correspondent. He was a founding editor of USA Today and was recently named by Gannett as one of the Top 10 reporters of the past 25 years. He can be contacted via e-mail at Hanchette6@aol.com.


Niagara Falls Reporter www.niagarafallsreporter.com Aug. 16 2005