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.
Texas Hold ‘Em Poker Tournament Benefit this Saturday, October 10 to help Stults family
Friends and family of the Stultses are hosting a Texas Hold ‘Em Poker fundraiser this Saturday, October 10 to help with Brisan’s and Parker’s enormous medical expenses as they cope with the devastating effects of Niemann-Pick Type C Disease (NPC), or “Childhood Alzheimer’s”.
The tourney will be at the VFW Post #5789, Lee’s Summit, Missouri. Doors will open at 5:00 p.m., late registration is at 5:30, and the games begin at 6:00 p.m. $35 entry, $20 re-buy, plus add-ons. The top 10 places will pay out, based on the amount of entries and money collected. A cash bar will be available during the tournament.
“I know what you’re thinking, ‘boy, right now $35 is a lot of money’,” said family friend and event coordinator Jenna Garcia. “And it is, but if you are like me, you are going to spend that $35 on something anyway. Why not use it toward something good that will help these precious little boys and their family?”
Take a minute and log onto www.bripardun.com to read about this family and the struggles they are going through. Click on the “Poker Tourney” tab, where you can register for the tournament.
Please contact Mike or Jenna Garcia for more information: mikegarcia@kc.rr.com or jainsworth@kc.rr.com.
Feb. 12, 2010 – The latest move by the Social Security Administration, in an ongoing effort to speed up the decision process for consideration of applications for disability benefits to those not yet age 65, is the addition of 38 new medical conditions to the list of Compassionate Allowances, which clearly qualify applicants. The new conditions range from early-onset Alzheimer’s disease to rare diseases that primarily affect children.
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