GRACE CITY, N.D. — A Grace City family has taken the fight to save their three young sons from a rare and deadly disease to Washington, D.C.
Laura and Jay Kulsrud's three boys — Lane, 12, Tanner, 11, and Ty, 8 — have been diagnosed with PKAN, a progressive, degenerative nerve disorder caused by a mutant gene that allows iron to build up in the brain and usually results in death by early adulthood.
The family has twice been the recipient of trips through the North Dakota Make-A-Wish Foundation.
Lane was diagnosed with PKAN in December 2011 and Tanner has begun to experience the same symptoms as his older brother.
Ty, the youngest boy, has tested positive but has yet to exhibit symptoms, which include uncontrollable muscle contractions that can cause jerking or twisting, rigidity and stiffness of limbs, weakness and difficulty walking and talking, and slurred speech.
Laura Kulsrud said there is hope, though, through a new drug, RE-024, that has yet to be given to humans. And there is frustration.
She said the boys' doctor in Sioux Falls, South Dakota, petitioned the Food and Drug Administration more than a month ago for what is known as an IND, or investigative new drug application.
Federal law requires a drug be the subject of an approved marketing application before it is transported or distributed across state lines, according to the FDA website.
There are three IND types in two categories: commercial and research. The three types are investigator, submitted by a physician who both initiates and conducts the investigation; emergency, which allows the FDA to authorize use when time is critical; and treatment, which is for drugs showing promise while the final clinical work is conducted and the FDA review takes place.
Laura Kulsrud and Robin Anderson, a family friend, met with FDA officials Thursday and were told the FDA cannot approve a physician's IND or an emergency IND without a corporate IND being filed first.
Anderson, who works in marketing and consulting, said she was stunned at the FDA's response. She said the Kulsruds' doctor spent a month waiting for a decision on the physician's IND application and were told the commercial approval had to come first.
"Why spend 30 days working on a case ... when all along the only option was to deny it?" Anderson said.
Laura Kulsrud said the drug is manufactured by Retrophin, a New York company, and two weeks ago she and Anderson visited with company officials.
She said Retrophin officials told her that in tests on animals, the drug was shown to cure PKAN in rats and monkeys, even when given in high doses with no toxicity or other side effects.
Laura Kulsrud said there are two separate FDA groups that oversee the IND applications and each group gave different answers on the process.
She was told by one group that the application to enroll Lane and Tanner as part of a clinical trial was denied because there is insufficient data on the benefits versus the risks.
Laura Kulsrud said the benefit is the lives of her sons would be saved. The risk? "They are not going to die from the drug," she said. "They are are going to die from the disease."
PKAN typically strikes in childhood and is fatal 10-12 years after being diagnosed. Martin Shkreli, co-inventor of RE-024, said only about 1,000 kids in the U.S. and 6,000 worldwide have been diagnosed with the disease, which does not allow the body to process vitamin B5.
He said part of the problem is the FDA has no specific division to deal with what are known as "orphan diseases" — diseases that affect fewer that 200,000 patients.
Shkreli said orphan diseases are lumped into the same category as gastro-intestinal diseases and aren’t given a high priority because there is a limited demand for the drugs used to treat them.
He said his company recently received a patent on RE-024. "We have been testing it vigorously," he said. "Ultimately, the drug has been proven to be effective."
Shkreli said in cases such as the Kulsruds,' the FDA must make exceptions.
"The rules need to change when lives are at stake," he said. "There is no greater risk ... they are on borrowed time."
Kulsrud and Anderson said meetings with FDA officials and Sen. John Hoeven, R-N.D., did provide a glimmer of hope.
Hoeven said he will follow up with the FDA in an attempt to expedite the process.
"That's what we're trying to work through," Hoeven said. "It's a serious situation ... we want the FDA to do everything they can to help this family."
In the meantime, Laura Kulsrud said every day that passes means more damage — at least for the two oldest boys.
She said Tanner especially has trouble with everyday tasks like getting dressed and eating. "Anything to do with his arms, really," she said.
Laura Kulsrud said she doesn't know offhand how much a trip to the drug store costs these days. "I don't even know. Tanner takes 27 pills a day," she said.
And while Ty hasn't started to show symptoms, he is at the age where he is starting to ask questions.
"He's scared," she said. "We all are. The boys just want to be normal.
"Every day we wait, there is more damage ... they don't get the fact that our kids are dying."