News

The “Right to Try”

By Scott Wagar

03/17/2015

It was a fun filled day on Friday for Lane and Tanner Kulsrud as they spent the afternoon on the slopes of the Bottineau Winter Park in a bi-ski where they left their marks in the snow as they conquered the hills of the Turtle Mountains during their first trip to Annie’s House.

For Lane, Tanner and their younger brother, Ty, they have been diagnosed with Pantothenate Kinase-Associated Neurodegeneration, or, PKAN, a rare genetic, metabolic disease in children where iron builds up deposits in the brain and causes dystonia, which is sustained muscle contraction that leads to abnormal posture, rigidity, problems with swallowing, weakness, visual impairment, tremors, along with a number of other symptoms. 

PKAN begins to show symptoms by the age of 10 in a child and is fatal within 10 to 12 years after their symptoms begin.

For those that have PKAN, their body doesn’t have the ability to metabolize vitamin B5 because the body doesn’t have a substance called phosphopantothenate, which, without the substance, leads to the build up of iron in the brain. 

PKAN has no known cure or treatments, but in recent years an experimental U.S. drug known as RE-024 has shown signs of being a life saving treatment for those with the disease. 

The medication works as a replacement therapy for phosphopantothenate. The drug has seen success by the FDA in animals and for one individual, who lives in Europe and lost his ability to walk, began to walk again after taking the drugs for six months.  

The problem for the Kulsrud children is that the testing of the drug by the FDA isn’t out of the first phases of trials. Once that is completed by the FDA, the experimental drug might be able to be utilized by patients with the disease, but only if the FDA grants approval.

For the boys’ parents, Jay and Laura Kulsrud, they would like to see RE-024 available immediately, and are making attempts to see it happen. They have visited with the FDA requesting that the drug be used as a compassionate treatment for their children, but they were denied.

 “In basic terms, RE-024 is an altered form of B5 which can be converted into Phosho B5 so it can remove the iron from the brain,” Laura said. “I know the drug is not going to kill my kids, it is very safe. 

“They have done the toxicity studies on all these animals and have given the drug in large amounts to these animals just to see if it would kill them, and it doesn’t,” Laura said. “But, when they don’t give the medicine to these animals that are induced with PKAN, the animals die. So, it is so simple, if you don’t give the medicine to them, they die.

“And, the FDA doesn’t take case studies from other countries,” Laura added. “So, it is just really frustrating right now.”        

Although the FDA has refused the Kulsruds the drug, this hasn’t stopped Jay and Laura from going another direction and moving forward in hopes of getting RE-024. 

The couple’s direction is making their voices heard to those in leadership, especially those in the North Dakota State Legislation with a new bill that is being heard by over 30 state legislations in the nation called the “Right to Try” bill.   

In North Dakota’s upper and lower houses, the bill (Senate Bill 2259) is being discussed in hopes that people with terminal diseases like PKAN or cancer can have better chances to gain access to FDA experimental drugs to assist with terminally ill situations.

Laura has testified for SB 2259 in legislative committees with hopes that her children can have the opportunity to take RE-024 to improve the condition of their lives or cure them.

To date, the bill has passed in the senate and is currently being discussed in the house.   

This drug is important for the Kulsruds’ kids because symptoms of the disease are starting to take over their lives. 

For Lane, who is the oldest child, his PKAN has progressed the most, leaving him with difficulty in walking, keeping his balance and speaking. Today, Lane has to walk with a cane and assistance from others. He also has difficulty speaking because he cannot get his words out as easily as he use to when he was younger.

Tanner, the middle child, has started to show symptoms of PKAN in his arms, shoulders and hands. The youngest brother, Ty, has showed no symptoms of the disease, but knows of his brothers’ illness and is left wondering when the disease will begin to affect him. 

As children, Lane and Tanner enjoyed skiing and racing down the hills like any other kids, but with the onset of PKAN, the two boys cannot ski on their own anymore.

So, gaining access to a bi-chair at Annie’s House was a thrilling event once again for Lane and Tanner that placed them back on the slopes and let them have fun at the winter park. 

For now, the Kalsruds have to wait and see what happens in the state legislation to see if they can obtain RE-024 for their children. 

But, like Lane and Tanner conquering the slopes at the winter park this past week, and leaving their mark of determination in the snow from their skiing, you can bet the Kalsrud family will leave their mark of determination with the FDA in obtaining experimental drugs for their children and those who need it.

“We have a tremendous amount of faith where we believe that this is going to be resolved and that God will carry us through it and He will find the solution to this problem,” Laura said. “In the mean time, we will just keep fighting for it and do what we can.”