Grace City family challenged by sons’ rare diseaseLast summer when Jay and Laura Kulsrud’s oldest child, Lane, kept holding one of his arms out to his side for days without much of an explanation, the parents knew something was wrong.
By: Brian Willhide, The Jamestown Sun
Last summer when Jay and Laura Kulsrud’s oldest child, Lane, kept holding one of his arms out to his side for days without much of an explanation, the parents knew something was wrong.
After Lane showed signs of increased clumsiness, the Grace City, N.D., couple and their 11-year-old son were referred by their local physician to a neurologist in Fargo.
An MRI last fall found a metal buildup in Lane’s brain with follow-up tests confirming it was iron. Specialists at The University of Minnesota diagnosed him with pantothenate kinase-associated neurodegeneration (PKAN), a rare genetic disease for which there is currently no known cure.
According to Oregon Health & Science University in Portland, Ore., whose human genetics initiative department helps study the disease, PKAN is a form of neurodegeneration that progressively builds up an excess of iron in the brain. This ultimately leads to several degenerative symptoms such as physical weakness and uncontrollable muscle contractions, among others.
“With PKAN, if you could look at the extent of the iron buildup on the brain tissue with the naked eye, you would literally describe it as rusty,” said Dr. Susan Hayflick of the OHSU human genetics initiative department.
Hayflick described this disease as “ultra rare.”
“We were told there is a one in a million chance that a child is born with PKAN,” Laura said.
Because it is a genetic disease caused by a gene mutation, Jay and Laura had their other two sons, Tanner, 9, and Ty, 6, tested for the disease as well.
When results came back indicating both younger sons also had the disease, University of Minnesota doctors were so bewildered that they ran the test again.
“They told us they would test the boys again from start to finish just because they simply didn’t believe the results,” Laura said.
According to doctors and researchers the family has spoken with, the three boys have the only registered PKAN cases in North Dakota. Hayflick said there are only currently about 200 to 300 registered cases in the entire country and a couple thousand in the world.
The disease results in nerve damage and several other debilitating symptoms, and while lifespans are variable, it can ultimately lead to premature death, according to a report published in August 2002 and updated in March 2010 by Allison Gregory of OHSU.
“Patients who get sick at age 2 or 3 will often die by their teens or 20s. Those not diagnosed until their teens or 20s will often die by their 40s or 50s,” Hayflick said, but added that because there are still so many unknowns about the disease, average life expectancy numbers can depend on an array of factors.
In an effort to combat the disease, there will be a trial held later this year in Oakland, Calif., at the Children’s Hospital & Research Center to experiment with a drug called Deferiprone that could potentially help diminish PKAN symptoms.
Jay and Laura are hopeful their boys will be able to begin the trial sometime this summer.
“There’s currently no medication small or minute enough to effectively get in the brain and remove the iron accumulation but previous results from this drug have seemed to be positive,” Laura said.
If the boys are approved at a pre-screening process in Oakland and the trial moves forward as planned, it would require the family to spend about three days in the California area four to six times during the 18-month trial period.
The boys today
The boys are currently being treated with a Vitamin B5 supplement, also known as pantothetic acid. This is most commonly used as a supplement to help with arthritis and joint pain.
Hayflick said PKAN is more of a problem with how the body takes in that vitamin and utilizes it within the body rather than a problem of diminishing the iron buildup within the brain.
“When it was first described, efforts were concentrated on the extent of iron collected on parts of the brain, but research now indicates that it’s much more about a defect in Vitamin B5 metabolism within the body,” she said.
Laura said she has seen the vitamin help the boys a little bit and, for the most part, all three boys have been handling the situation quite well.
Oldest son Lane, who has dealt with the most complications of the disease including slurred speech, loss of balance and frequent falls, is eager to begin treatment.
“He just keeps asking me when the trial is going to start,” Laura said.
Middle son Tanner, whose only symptoms to date have included slurred speech, is optimistic.
“When we sat down and really told him what he had, he just said ‘That’s OK, Mom. It’ll be OK,’” Laura said.
Youngest son Ty, who has yet to show any symptoms of the disease, has denied he even has it.
“He’s told me things like, ‘I don’t have that disease. I’m tough and strong,’” Laura said. “That’s the attitude he takes.”
To help cover existing and future medical expenses, friends and community members are helping plan a benefit for the family.
“You read about these things and realize it’s not something you’ve read online or heard on the news about a stranger — it’s someone right here in the area,” said Robin Anderson, a family friend who is helping coordinate the fundraiser on behalf of Dakota Central Telecommunications.
“Obviously, we were all devastated with the news of Lane’s illness. Our emotions went from devastation to shock when Tanner and Ty were also diagnosed,” she said. “It’s unfathomable to think that all three boys ended up with it.”
The benefit will be held on June 9 at the Foster County Fairgrounds in Carrington, N.D., where there will be a meal, silent auction, live auction and dueling pianos show.
Anderson said the fundraiser’s goal is to collect more than $250,000, which Laura said she and her family could not be more grateful for.
“We really can’t say thank you enough,” she said. “We didn’t realize that so many people cared, not just in the community but all over the country.”
Laura said she has received cards and donations from strangers who have been touched by hearing about her family’s story.
She said she and her husband are doing OK now after shaking off some initial shock upon hearing the diagnosis.
“We just have to move on and deal with this, all while praying for a miracle,” she said.
At the benefit, Dakota Central employees will be cooking hamburgers and hotdogs and serving chips and salads for a freewill donation from 5 to 7 p.m. Items for a silent auction will be on display from 5 to 8 p.m., with a live auction following at 8 p.m.
Anderson said businesses and individuals have been very kind to the cause.
“Our telecom industry has been very generous with big auction items such a 46-inch smart TV, laptop computers, Kindles, iPads, etc. coming from other telcos across the state, our region and even as far away as Missouri,” she said.
Also available for bid will be some notable sports memorabilia, including game-worn, signed jerseys from area native and Cleveland Indians All-Star Travis Hafner as well as North Dakota Sports Hall of Famer and Minnesota Vikings fullback Jim Kleinsasser.
There will also be a dueling pianos show from 9 to 11 p.m., with pre-sale tickets going for $20 and at-the-door tickets going for $25.
“While the cause is certainly serious and somber, we expect this to be a fun event for people to come together and have a good time while helping out a great family,” Anderson said.
For more information about the benefit fundraiser, contact Anderson at 701-652-3184 or 701-952-1000 or visit the Facebook page at www.facebook.com/KulsrudBrothers.
Sun reporter Brian Willhide can be reached at 701-952-8454 or by email at firstname.lastname@example.org
WHAT: Kulsrud Brothers Benefit
WHEN: 5 to 11 p.m. on June 9
WHERE: Foster County Fairgrounds, Carrington, N.D.
COST: Freewill offering for meal; $20 pre-sale tickets for Dueling Pianos Show ($25 at the door)
CONTACT: Robin Anderson at 701-652-3184 or 701-952-1000 or visit the Facebook page at www.facebook.com/KulsrudBrothers