Missouri family copes with loss of two sons by helping others

Lexi Sutter

Read More: http://www.kshb.com/news/local-news/missouri-family-copes-with-loss-of-two-sons-by-helping-others

Grieving two lost sons, Kearney family helps others

01/29/2015 5:09 PM

Jennifer and Michael Stults are burying the second of their three sons Friday. Parker, who died at home last week, was 9 years old.

Almost eleven months ago, in March, the young Kearney couple buried their eldest son, Brisan. He was 91/2.

“The house is eerily quiet now,” Jennifer Stults, 29, said this week.

For the great majority of the boys’ lives, the Stultses knew this day would arrive, even as they prayed that God and medicine might forestall it. In 2008, Brisan and Parker, then ages 4 and nearly 3, were diagnosed with an extremely rare genetic disorder, Niemann-Pick Disease Type C, thought to affect about 500 children in the United States.

 

Grain Valley family fights to find a cure for rare disease

Raising awareness about rare disease

 

http://www.kshb.com/news/health/grain-valley-family-fights-to-find-a-cure-for-rare-disease

 

Woman Lends Hand In Tragedy – KOMU.com

August 2010

Strength of family endures despite nearly insurmountable odds

Two young brothers suffer from rare disease, sometimes called “Childhood Alzheimer’s”

By Christopher Fischer
The Pointe Staff

Published: Tuesday, October 6, 2009 10:04 AM CDT Enter their home, and you’ll see a young, middle class family that appears to be much like any other in Grain Valley. Three young, boisterous boys romp and play, stopping from time to time to interact with each other and their parents, or to eye “The Incredibles”, as the cartoon flashes on the television screen. The boys are handsome, with winning smiles; Duncan, the toddler, has just two teeth in the front and an impish grin. All three children are playful and outgoing. Parker, the middle child, goes from adult to adult with his hand out.

“Hundred dollars,” he says. It’s an inside joke in his family; his mom offers him imaginary money in exchange for affection.

But spend a little time with the boys, and you start to sense the differences. It’s hard to understand the older boys. Brisan, 5, and Parker, 3, don’t possess the language skills of average children their age. It’s difficult to make out their words, and their vocabulary is limited. They move a little differently, careful most of the time, stumbling and falling a lot for their age. They get tired easily. They have trouble looking too far up or down, a condition called vertical super-nuclear gaze palsy.

Little brother Duncan is under two, and hasn’t really started using a lot of words yet. But when he revs up his engine and runs across the living room floor, there is a palpable difference between him and his big brothers. Although he is a little small for his age, making him look a year younger than he is, the toddler is steadier on his feet. His motor skills are what they should be.

The two older boys have severe learning disabilities, and Brisan finds it hard to swallow food, thus the need for his gastric feeding tube, or G-tube, which protrudes slightly from above his stomach. Brisan has had thousands of seizures this year alone. Jennifer has noticed a definite difference after each such episode. She relates a story of Brisan singing “The Wheels on the Bus” one day, then experiencing a seizure, and, along with being completely worn out, no longer recognizing the song.

These and other health problems are part of the difficult fight the Stults family is enduring. Mike and Jennifer learned a little over a year ago that their two older boys suffer from an extremely rare neurodegenerative disease called Niemann-Pick Type C (NPC) disease. It is often called “Childhood Alzheimer’s” because of the similar effects of the two disorders.

It’s so rare that they can name the families in the Midwest who are fighting NPC; two in St. Louis, one in Iowa, and so forth. The support network is small, but there are groups of people on the internet blogging about the daily challenges and sharing news. There are only about 75 people in the United States with the illness; there were around 85 a year ago.

“We’ve lost quite a few this year,” said Mike, adding that only around 500 cases have ever been diagnosed worldwide. Jennifer added that many case go misdiagnosed, since the disease can affect people of all ages and is similar to so many other lysosomal storage diseases, including Alzheimer’s.

The date they learned the bad news would be easy for anyone to remember; for Jennifer and Mike, it’s burned in their consciousness.

“8/8/08,” Jennifer says, without having to think about it. The rest of the world was watching the opening ceremonies of the Beijing Olympics, or the growing tension between Russia and Georgia, or the deepening worldwide financial crisis. Mike and Jennifer were coming to understand that their family was under attack from a ruthless, debilitating disease.

They had been worried about Brisan for a long time, as well as Parker. Both had some complications at birth, neither was developing at a normal rate. They hadn’t acquired language skills in keeping with their years. They also didn’t make eye contact.

When they found out that then-4-year-old Brisan had the illness, sitting in Children’s Mercy Hospital, they were advised not to do an internet search on NPC. Of course, that’s just what Jennifer did when she got home. The first thing she saw after “Googling” it was that the outcome was always the same: fatal.

The next month, tests came back and they learned that Parker, then 2 years old, was also afflicted with the disorder.

And so began a tragic countdown, one that has no specified ending. The family may have ten, maybe even fifteen more years with Brisan and Parker. There is just no way to know how long they’ll be around.

What is known is this: they won’t be able to move around much by that time. They will develop dementia, slurred speech, worsening balance. They won’t be able to speak, laugh or swallow. And a day will come that they will not recognize their mom and dad when they see them at their bedsides.

That difficult knowledge- “difficult” can’t begin to do it justice- hasn’t stopped the Stults family from finding ways to fight. They are working with the National Institutes of Health, the Mayo Clinic, the National Niemann Pick Disease Foundation and others in the field to help study this rare disorder.

“This is one of a family of fifty or sixty inherited (lysosomal storage) diseases that cause accumulation of large molecules, particularly fatty molecules, within the lysosomes, which are the recycling center of the cell,” said Dr. Marc Patterson, a pediatric neurologist with the Mayo Clinic. He said that, despite years of research, experts still don’t exactly know what the purpose of the gene, known as the NPC-1 gene, is. It doesn’t create enzymes like other lysosomal storage genes, but is important in the trafficking of large molecules.

Patterson said in a podcast recently that there is some encouraging research being done, including a trial that he is investigating, in which the synthesis of the lipids is inhibited.

Both Mike and Jennifer are carriers of an acid sphingomyelinase gene mutation, which is not known to cause any health problems for carriers. There is no way to know you are a carrier without genetic testing.

A child of two carriers has a 25% chance of being not affected and not a carrier of NPC, or having two working copies of the gene, a 50% chance of being a carrier like his parents, having one working copy, and a 25% chance of having no working copies, thus being a carrier and affected by the disease, like Brisan and Parker.

Little Duncan hasn’t been diagnosed with NPC, but is a carrier. His mom and dad worry, and they want to run more tests to learn what his outlook may be. Though he has had some minor developmental issues, like the slowed growth, he hasn’t exhibited the symptoms they saw in his older brothers at that age, the vertical gaze palsy or mobility problems, which is encouraging.

The couple has stayed strong despite the strain on their family, their marriage and their emotions. Love of their children and each other, and a faith in a higher power make it easier.

Jennifer is an energetic and enthusiastic 24 –year-old biology student with an eye toward a medical degree. She explains in great detail the physiology of NPC, as well as the treatments for various aspects of her sons’ ailments. Mike, 27, is in internet sales solutions. He’s more laid back, but every bit as good-natured and upbeat. He says it wasn’t always that way.

“Last year, we did an interview, not longer after we got the diagnosis, and the tears were flowing pretty good,” he said. He adds that they continually draw their strength from a deep belief in God, with the understanding that they are imperfect beings, but that He is in control.

And they don’t lay their problems at anyone else’s feet. They talk about the astronomical cost of insurance, doctor’s visits, procedures and medications, but it never sounds like they’re complaining. They juggle a lot to keep up with the growing expense of keeping their boys comfortable and as healthy as possible, and are often surprised by the willingness of friends and strangers to get involved and try to help.

Mike was laid off this past summer, just like many others in the country, and found work again recently. He is grateful to have the job he has, which allows him to work online from home.

“It’s hard to do interviews if the first thing you’re going to ask about is health insurance,” he said. “Try telling them you’ve got two terminally ill kids, and they’re like ‘What!?’” Employers can’t discriminate, of course, but it’s hard to believe such considerations don’t factor in to how job candidates are considered.

The family is insured with COBRA, the government program allowing for temporary group coverage health insurance in extenuating circumstances. That gets expensive; the premiums are nearly $1,200 per month, although there was a 65% subsidy for nine months thanks to the federal economic stimulus act earlier this year, which means for nine months the cost has gone down to $419, 27. The future of their COBRA coverage is uncertain; there are extensions for the subsidy, but at some point, the cost will go back up to $1,197 and change. And it can cost $500 to go to the doctor’s office each time, for each child. No matter what happens, they cannot allow their boys’ insurance to lapse.

They have tried drugs that claim to slow the symptoms down; one, called Zavesca, cost $80,000 a year per child; totaling $160,000. It is prescribed for people with Gaucher’s disease, another lysosomal storage disorder, but works in cases like the Stults boys’ by reducing liver and spleen size, while increasing hemoglobin content and platelet count. They recently took the boys off of that medication, for fear it was contributing to the nonstop nosebleeds both children were experiencing. Brisan had already had two surgeries for polyps in his sinuses, and will likely have to have a third.

Because of these difficulties and expenses, it’s been so crucial for the family to have a support network of medical professionals, researchers, family and friends. The emotional toll can never be measured. The mental toll is constant, and the financial toll is relentless.

Every once in a while, good-hearted people like the Garcias, friends of the family, find a way to organize a benefit or fundraiser. They are hosting a Texas Hold ‘Em tournament this weekend to help raise money for Brisan and Parker, and every little bit helps.

Facing challenges like the ones laid before the Stults family gives one a different perspective; priorities shift, as does one’s tolerance for negativity.

“At first, it was just so surreal,” said Mike. “When the doctor herself calls you, you know it’s bad, and you just get this sinking feeling. We just knew it wasn’t good.

“Now, you realize how hard these types of things are on everybody. I don’t like hearing about bad things happening to children, so I don’t like watching the news that much. If a child dies in a car wreck or a fire or a random shooting, I just can’t take it.”

“We try not to watch the local news that much,” Jennifer agrees. But they have each other, and have somehow managed, despite the mountain of challenges and their relative youth (Mike is 27 now, and Jennifer is 24), to fight through the tears and be strong for all three of their children. They have an enduring faith, tempered with a realistic and encyclopedic understanding of their boys’ predicament. They believe there is a purpose for all of this, and that Brisan and Parker may somehow serve future victims of Niemann Pick Type C disease, through the research that is currently being done.

They don’t know how long they have with Brisan and Parker. But they’ll be fighting for them right up until the end.

That’s what a family does; it’s what love requires of exceptional parents.

Metro Family Tries to Cope With ‘Childhood Alzheimers'

November 21, 2008

A metro family is dealing with the dual tragedy of two children with NPC, or ‘Childhood Alzheimers.'

KANSAS CITY, MO – If you tell someone that your child suffers from “Niemann Pick Disease Type C,” most people would have no idea what you're talking about.

But if you tell them that your child suffers from “Childhood Alzheimers,” those people would begin to understand the seriousness of your child's condition.

Niemann Pick disease is a rare and fatal disease that robs a child of both their past and their future, and for one metro family the condition is a double tragedy.

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Link: Family's web site

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“(The doctor) told me it's Neimann Pick disease type C, but don't go home and Google it,” said Jennifer Stults, 23, of Liberty who recounted the June day when she learned that her son Brisan is terminally ill. “What was the first the I did when I got home?  I Googled it, and the first think I saw in big, bold letters was the word ‘fatal' and I lost it.”

With Neimann Pick disease type C, or NPC, the body isn't able to get rid of cholesterol.  It accumulates in the body's cells, first collecting in the liver and the spleen. As the disease progresses, patients tend to lose their memory and the ability to swallow, have problems with coordination and balance and can start to suffer from seizures.

“He used to know his numbers up to 15, but now, he just goes 1,2, 3.. 9, 10,” said Jennifer. “Every color now is orange or brown, every shape now is either a circle or a square.”

The lifespan of a child with NPC is typically 10 to 12 years, at best.

“I said, ‘What do we do now?'”said Jennifer. “(The doctor) said take him home, keep him comfortable and pray that he doesn't die. I'm not happy with that answer. I'm going to fight, I am fighting.”

For the Stults, the fight now includes their second son, Parker, who was also diagnosed with NPC in August.

“I tried to feel strong because I know we can't both be an emotional wreck. But don't let me fool you, I get sad,” said Mike Stults.

“It's hard knowing that one day your kid will not know you're mom,” said Jennifer. “They won't know me from nurse, and I'll have to wake up everyday explaining to them ‘I'm mommy.'”

“They'll never go to prom, or have a slumber party, or get married or even have a girlfriend. They'll never ride a roller coaster. The simple things,” said Jennifer.

But Mike and Jennifer Stults are refusing to give up. They've put Brisan and Parker on a trial drug, with a price tag of $160,000 a year, and they are aggressive with therapy. The couple, whose other son, 9-month-old Duncan, was recently identified as a carrier of the disease but does not suffer from it, are relying on their faith to see them through as their sons' condition worsens.

“God really knows our hearts and has a plan for us, and I don't know what that is,” said Mike. “I just ask him ‘Hey no more! Let's cool it down for a while and give us a break for a second.'”

Stephanie Hockridge, FOX 4 News

Childhood Alzheimer's

Posted on 10/27/2008
Rare genetic disorder is a double challenge for family

BY ERIC ADLER

McClatchy Newspapers (original story was in the KC Star)

KANSAS CITY, Mo. — One day … one moment … one step at a time.

Ever since she got the news, sitting dumbfounded in that little office, every cliche 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 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, Mo. 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.

“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.