North Dakota family’s three sons have rare genetic brain disorderGRACE CITY, N.D. – When Jay and Laura Kulsrud’s oldest child Lane kept holding out one of his arms to his side for days last summer without much of an explanation, they knew something was wrong.
By: By Brian Willhide, Forum Communications Co., INFORUM
GRACE CITY, N.D. – When Jay and Laura Kulsrud’s oldest child Lane kept holding out one of his arms to his side for days last summer without much of an explanation, they knew something was wrong.
When Lane showed signs of increased clumsiness, the Grace City couple and their 11-year-old were referred to a neurologist in Fargo.
An MRI last fall found a metal buildup in Lane’s brain, and follow-up tests confirmed 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 no known cure.
Oregon Health & Science University in Portland, whose human genetics initiative department helps study the disease, says PKAN is a form of neurodegeneration that progressively builds up an excess of iron in the brain. It leads to several degenerative symptoms such as physical weakness and uncontrollable muscle contractions.
“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 the disease as “ultra rare.”
Because it is a genetic disease caused by a gene mutation, the Kulsruds had their other two sons, Tanner, 9, and Ty, 6, tested.
When results came back showing they also had the disease, University of Minnesota doctors were so bewildered they ran the test again.
Doctors and researchers the family has spoken with say the three boys have the only registered PKAN cases in North Dakota. Hayflick said there are about 200 to 300 registered cases in the country and a couple thousand in the world.
While lifespans are variable, the disease can lead to premature death, according to a report published in August 2002 and updated in March 2010 by Allison Gregory of OHSU.
In an effort to combat the disease, a trial is scheduled later this year at the Children’s Hospital and Research Center in Oakland, Calif., to experiment with a drug called Deferiprone that could help ease PKAN symptoms.
The Kulsruds hope their boys can begin the trial sometime this summer.
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.
Lane, who has dealt with the most symptoms from the disease – including slurred speech, loss of balance and frequent falls, is eager to begin treatment.
To help cover existing and future medical expenses, friends and community members are planning a June 9 benefit for the family. The fundraiser’s goal is to collect more than $250,000.
“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,” she said. “Our emotions went from devastation to shock when Tanner and Ty were also diagnosed. It’s unfathomable to think that all three boys ended up with it.”
The benefit will be at the Foster County Fairgrounds in Carrington, 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.
Laura Kulsrud can’t thank the community enough.
“We didn’t realize that so many people cared, not just in the community but all over the country,” she said.
She has received cards and donations from strangers who have been touched by hearing about her family’s story.
Kulsrud said she and her husband are doing OK now after shaking off some initial shock when they heard the diagnosis.
“We just have to move on and deal with this, all while praying for a miracle,” she said.
Dakota Central employees will cook hamburgers and hotdogs and serve chips and salads for a freewill donation at the benefit 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.
Brian Willhide writes for the Jamestown Sun
If you go
• 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/