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Rare genetic disorder is double burden for family

This story was published on Oct. 20, 2008.

One day ... one moment ... one step at a time.

Ever since she got the news, sitting dumbfounded in that little office, every cliché about how to live life when it crumbles beneath your feet, when every dream you have for your children turns to vapor, has coursed through Jennifer Stults’ mind.

“Just the facts, Mom,” she keeps telling her mother. “Mom, I’m just going to deal with the facts and do what I need to do.”

Because the facts are that Jennifer, 23, is a 4-foot-11 ball of manic energy from Grain Valley with the alert, determined eyes of a mother under siege. She has a husband, Mike, 26, an Internet ad salesman, and three sons: Brisan, 4; Parker, 2; and Duncan, 8 months old.

While the planet watched recently as the developed world headed toward economic collapse, while people worried about their jobs and money and retirement accounts, Jennifer Stults’ family was shaken by two words few have ever heard spoken together:

Childhood Alzheimer’s.

It was August. The Stultses sat in an office at Children’s Mercy Hospital to finally hear exactly why Brisan had never quite developed right in mind or body.

They had wondered for a long time. Plucky, 3 feet tall, with hazel eyes and an impish spirit, Brisan had been born early and ill, with an enlarged liver and spleen. They knew, as he grew, that he wasn’t talking. When he was 2 1/2, his verbal abilities were that of a 9-month-old. They tried cutting his hair, and he screamed as if in pain.

His developmental delays were obvious. Autism, the Stultses figured. They would manage.

But now, at 4, Brisan had gone beyond not learning.

He was forgetting: his colors, his numbers, his words. And he fell down a lot. He would run, then collapse, as if his legs were rubber.

A battery of tests finally confirmed the diagnosis as a disease that, because of its slow and devastating effects, has been nicknamed “childhood Alzheimer’s.” Technically, it is Niemann-Pick Type C, or NPC, an astoundingly rare genetic disorder known to exist in about 100 living people in North America and only 500 worldwide.

It is always fatal. Just weeks ago, the Stultses learned one more fact: Parker, age 2, has it also.

The Stultses now know that by age 9, 10, or, if they are lucky, 20, their two sons will die.

Like Alzheimer’s, this disease will do it gradually. There’s no cure.

With NPC disease, structures inside the body’s cells don’t metabolize cholesterol and other fatty lipids. The result is toxic, a progressive accumulation that will choke the neurological cells of the boys’ brains.

It will send them into seizures. It will cause dementia. It will rob them of their muscles and minds and memories, even their ability to swallow.

Jennifer nearly collapsed the day she heard.

“We have prayed more than we have ever prayed,” said Mike.

Jennifer weeps, thinking of what won’t be.

“They’ll never have a slumber party. They’ll never have dates. They’ll never go to prom.”

Every day, she worries about Brisan and Parker falling down the stairs. She sees Brisan’s memory slipping. He twists his tongue like a baby. His eyes wander with a lost look.

“Someday,” she said, “he won’t even know who I am.”

The Stultses also knew that they had to do more than just pray. They knew they couldn’t save their boys’ lives. But as Jennifer’s 69-year-old grandmother, Celia Carnes, said:

“You have two options. You can either fall apart and do them no good, or you can keep going.”

Said Jennifer: “If there is something I can do that will give me one extra day with my kids, I’ll do it.”

On a recent Sunday afternoon, Mike and Jennifer mingled at the center of Heritage Hall in downtown Liberty. The Stultses, their family and their friends wore white T-shirts printed with the black-and-white images of the brothers on the lawn of their suburban home along with the words, “help give them a better life...”

It was a fundraiser, a silent auction, that Jennifer had rushed to organize.

The boys ran, tottering, around the large and largely empty room, 50 or so people dotting a hall that holds 2,500.

“Brisan, pull up your pants,” Jennifer called to her son at times.

Jennifer didn’t know what to expect. If enough people came, maybe they’d get tens of thousands of dollars. They could pay for future therapies or devices. Maybe they could offset the cost of miglustat, the one medication that has shown some promise in mildly slowing the disease.

But the drug costs $80,000 a year. For two patients, Brisan and Parker, that would be $160,000.

Most insurers don’t pay for miglustat for Niemann-Pick, because the drug is only FDA-approved to treat a different storage disorder. Because Niemann-Pick is so rare, however, a growing number of insurers are agreeing to pay for the drug, case by case.

That would be huge to the Stultses because they’re broke.

Mike’s job at Indigo Interactive Inc. pays about $40,000 a year. He has insurance now. But for a short time last year, after he got laid off by a bank, he did not. Brisan’s medical bills mounted, crushing them in so much debt that this year they declared bankruptcy.

“I’m thankful I have a job right now,” Mike said.

All afternoon, Jennifer peeked at the numbers on the silent auction sheets.

She and friends had gathered books and jewelry. They gathered baby toys and signed autograph pictures of “American Idol” star David Cook and of Miley Cyrus as “Hannah Montana,” of Kansas City Chiefs running back Larry Johnson, of Kansas City Royals Hall of Fame player George Brett and others.

Friends with home distributorships for Mary Kay cosmetics, for cookies, candles and other products, lined a back wall to sell their goods and donate the profits to the Stultses.

“As soon as this is over, we’re hitting the road,” Jennifer said.

Outside, a white van donated by the family’s church sat parked with its blunt nose facing the curb. The family planned to drive north though the night to Rochester, Minn., and the Mayo Clinic to meet with physician Marc Patterson, one of the nation’s leading experts on Niemann-Pick.

Exactly what they expected Patterson to do for them, not even the Stultses knew.

“Offer hope?” Jennifer said. “Obviously, I pray every night that they’re cured.”

To the Stultses, Patterson may have represented their last best chance.

If more tests could be done, Patterson could do them. If new studies or clinical trials or experimental drugs existed, he would know about them.

At some laboratories, Niemann-Pick is being studied aggressively.

Patterson conducted the studies on miglustat to show how it can help a bit against NPC.

At the National Institute of Child Health and Human Development, researchers have been recruiting NPC patients for an ongoing observational study.

They bring in as many individuals as possible to study everything — tissue, blood, urine, brain scans — to identify “biological markers,” or commonalities among patients, to use as guideposts for future therapies to fight the disease.

At Washington University, physician and researcher Daniel S. Ory is working on new drugs and testing new combinations of known drugs in a species of mice that naturally has NPC.

“Some of these therapies are showing some promise,” Ory said. He predicts some could be tested in humans in the next 18 months.

Without doubt, scientists made a giant breakthrough with Niemann-Pick in 1997, when researchers mapped the specific gene mutation on chromosome 18 that causes the disease.

Genetically, Niemann-Pick Type C is what’s called an autosomal recessive disease. That means a child must inherit two copies of the mutated gene, one from each parent. Individuals with one copy of the gene are “carriers” but are unaffected.

In the astronomically rare instance that two carriers, such as Mike and Jennifer Stults, come together — unaware that the disease exists or that they carry its gene — the odds are 25 percent with each pregnancy that an affected child like Brisan or Parker will be born.

Duncan, 8 months old, does not have Niemann-Pick. He is a carrier.

“Being in the medical profession, “ said Jennifer, who has an associate degree in medical billing and hopes to go to medical school, “I do know that, most likely, they will not be cured. But I still, personally, have to have faith in God that all things are possible.”

At close to 5 p.m. that Sunday, 20 minutes before the fundraiser ended, Jennifer eyed the silent auction sheets once again.

Earlier, her grandfather’s friends on the Liberty Horseshoe Club gave $500 to the family. Other people placed fives, tens and a few checks for more in shoeboxes placed around the hall.

At the silent auction, books went for $35, jewelry for $110. One woman bid $200 for Miley Cyrus pictures and her autograph. But many sheets remained blank.

When all ended, the Stultses locked the door to the empty hall.

“Come on, follow me,” Jennifer called to Brisan and Parker.

They toddled toward her. They fell as they walked.

In the van, Jennifer snapped them into their car seats. She later counted the $2,200 they collected, enough for some equipment. Maybe they could help turn the family’s basement into a safe room for therapy.

“This will help some,” Jennifer thought.

The family drove on into the night.

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