Bowler strikes at childhood disease

July 31, 2000

By Mike Falcon
With medical adviser Stephen A. Shoop, M.D.
A Doctor In Your House.com

Thomas Becker.

Unlike most professional athletes, marathon bowler Thomas Becker is not driven by fame or fortune. Until he heard about spinal muscular atrophy (SMA) - a devastating neuromuscular disease that is the leading genetically-linked cause of death in infants under two - he had never thought about rolling 16-pound bowling balls for a world-record consecutive 30 hours and 48 minutes.

But until there's a cure for SMA, Becker may bowl forever. "I have to," he says. "It's the only way I know to bring attention to this tragedy."

SMA basics

Up to one in 6,000 babies is born every year with SMA, although estimates vary widely. One in 40-80 people carry the recessive gene that causes it. When two people with the gene decide to have children, there's a 25% chance their baby will develop SMA.

The baffling disease destroys motor neurons that transmit impulses from the brain to otherwise-healthy muscles. Due to lack of stimulation, the muscles atrophy, leaving the victims - most often babies and children - unable to walk, stand, or even sit up. They eventually die, usually from respiratory complications.

Despite the relatively common occurrence of the gene that causes it, SMA is not well-understood. "It's
a mystery to the public," says Dr. Robert Leshner, professor of neurology, pediatric and physical medicine, and rehabilitation at Virginia Commonwealth University, "although Thomas Becker is helping change that."

Becker has teamed up with AMF Bowling, Inc. to take his marathon work on the road. The AMF/FightSMA.com Tour kicked off in May and concludes in late August. When it's over, Becker will have bowled in all 50 states in 100 days in an attempt to raise $1 million for FightSMA.com and Andrew's Buddies, SMA advocacy groups and research sponsors.

Marathon bowling

"Her dad was raffling off a Super Bowl ticket to raise money," recalls Becker, "and I had a tough time just watching. His little baby girl was dying. It really bothered me that nobody seemed to know about SMA."

After visiting Allie in the hospital, Becker came up with the notion that "a world record would make people pay attention." But what kind of record can a decorated veteran, father of two, and former bowling alley manager hope to break?

Having been around bowling all his life, Becker had vaguely heard of marathon bowling, but had never thought seriously about it. But after consulting the Guinness Book of World Records, he decided go after the most demanding of the several records in the category. After all, he thought, how tough could it be?

Very tough, it turns out. After one day and 41 minutes of continuous bowling, Becker was wheeled into a hospital, unable to stand, both feet covered in raw blisters, hands bleeding, suffering from dehydration and exhaustion. But he had his world record.

Six weeks later, Allie died.

The little girl's demise touched Becker deeply and prompted him to make himself a promise. He would not stop bowling until SMA could be stopped.

His next new marathon record of 31 hours and 48 minutes - knocking down more than 30,000 pins and bowling 328 strikes during 221 total games - was featured on The Today Show and in USA TODAY. The national coverage began to attract serious sponsors with equally serious commitments, including AMF.

The subsequent tour has turned Becker into the world's only professional marathon bowler. But infinitely more important, it has promoted new awareness of the dreadful disease.

Detection

Parents are usually the first to notice SMA symptoms. Failure to develop age-appropriate motor functions - such as sitting, standing, or walking unassisted - are key. Poor tongue and chewing control can also be clues.

Because SMA symptoms overlap with those of a number of other neuromuscular diseases - notably muscular dystrophy - four diagnostic procedures are performed in progression to establish a firm diagnosis:

A clinical history and physical examination
Electromyography and nerve conduction studies
Muscle biopsy
Genetic testing

SMA typing

SMA is usually classified by when the disease's effects are first noticed - which has strong correlations to both the eventual effects of MSA and predicted survival outcomes.

Type I: Werdnig-Hoffman disease - Onset of symptoms usually occurs anywhere from the last trimester of pregnancy to eight months of age. The most severe form of SMA, it affects chewing, swallowing, respiratory muscles, and the arms and legs. Type I SMA victims can never sit up without help, and respiratory complications almost always end their life before age two.

Type II - Usual symptomatic onset is observed at 6-18 months of age. These babies and infants usually have fewer and less severe symptoms. They can usually sit up by themselves, but will never be able to stand or walk without support. Some children with SMA Type II have a relatively static course and remain free of life-threatening complications such as pneumonia.

Type III: Kugelberg-Welander disease - Symptoms usually appear after 18 months. Many of these children may appear "normal" until they are 5-10 or even older and may remain ambulatory for decades after the onset of symptoms. Other patients exhibit slowly progressive symptoms resulting in loss of independent walking. Respiratory complications are uncommon and swallowing problems are rarely encountered.

Treatment

Because there is no cure for SMA, treatment concentrates on preventing complications and extending and improving the patient's quality of life. For Type I infants, this may mean feeding tubes and respirators. For children with Type II SMA, ventilator masks and motorized wheelchairs are the rule. For older Type IIIs, braces and physical therapy are usual.

Promising research

New research developments provide hope, however. Much of it is based on the work of French researcher Dr. Judith Melki, who in 1995 "uncovered" the two nearly mirror forms of the survivor motor neuron gene: SMN-1 and SMN-2, also known as SMN-T and SMN-C.

SMN-1 allows the body to produce SMN protein for the creation and survival of motor neurons. These specialized nerve cells are found mostly in the portions of the spinal cord that connect to muscles. But 97% of SMA patients are missing SMN-1.

As a result, people with SMA have significantly smaller amounts of these motor neurons than normal, either because of the absence of the SMN-1 gene or the failure of the SMN-1 to "code" or give instructions to produce sufficient quantities of SMN protein.

Although another mirrored gene near SMN-1 and -2 called the "neuronal apoptosis inhibitory protein gene" (NAIP) might also be involved, current research centers on four SMN-based possibilities:

Prompt SMN-2 to produce more SMN-1 protein - SMN-2 also produces an SMN protein, but in a slightly different form and minute amounts. High throughput screening (HTS), which accelerates biological research with robotics and computers, is currently being used to search tens of thousands of substances in order to find one which will "trick" SMN-2 into producing larger amounts of useable protein. FightSMA.com provided the research funds.

Improve the health and survival rate of existing motor neurons - Since SMN-2 prompts development of only a small amount of appropriate protein, it's thought that retaining and extending the protein's cellular life might be enough to produce some increase in muscle strength. The drug gabapentin may do that. FightSMA.com provided major funding for the current clinical trials of the drug.

Introduce the SMN-1 gene - Genetic therapy could theoretically introduce SMN-1 into the body, and hopefully restore correct coding. This may be the ultimate answer, but has yet to be repeatedly and regularly performed.

RNA re-coding - RNA carries information about the specific composition of a particular protein. Change the RNA's message - in between when it picks up the information from DNA and delivers it - and you can build a new protein, at least in theory.

Because the key to this research is just five years old, "we're optimistic we've finally got the clues to fight SMA," says Leshner.

But until the fight is finished, you can count on Becker to keep bowling.

"These little kids can't help themselves," he says. "It tears your heart out to see them and their families suffer so much. If I can keep the balls rolling and the pins falling, if I can get more and more people to team up and pitch in, I know that together we can beat this terrible disease."

"Marathon bowling may seem like a strange way to take on a killer," he concludes, "but it's what I can do. And if I can figure out a way to do more, I will."

For more information

For details on SMA research and the schedule of remaining Becker tour appearances, check http://www.fightsma.com

To look into the world of the children who suffer from SMA, learn more about the disease and its local support chapters and volunteer needs, visit http://www.andrewsbuddies.com