Jay and Laura Kulsrud have three boys: Lane, Tanner, and Ty.
They are 13, 11 and 8 respectively. During the fall/winter of 2011/2012, Lane started to experience slurred speech, stumbling and other neurological symptoms. After several tests they found out that he has a condition called PKAN, a form of NBIA (Neurodegeneration with Brain Iron Accumulation).
What is PKAN?
PKAN or Pantothenate Kinase-Associated Neurodegeneration, is the most common form of NBIA. Between 35 and 50 percent of the NBIA population has PKAN.
It is caused by mutations in the PANK2 gene. This gene provides the instruction for making an enzyme called pantothenate kinase. Researchers are investigating how this missing enzyme damages nerve cells in the brain and causes iron to build up.
There are two forms of PKAN: classic and atypical, although some people have symptoms that place them in between the two categories.
Because the disease is genetic, they tested the other two boys who were 9 and 6 at the time. There was a 25% chance they would have PKAN, 50% chance they wouldn’t and 25% chance they would be passive carriers like their parents. Test results came back positive that Tanner and Ty also have the disease. Since that time, the disease has begun in Tanner and he has developed slurred speech and has a very difficult time doing everyday tasks such as eating, dressing himself and playing. Lane suffers from the same symptoms. They still haven’t noticed any symptoms in Ty who is now 8.
The chance of one having PKAN is rare, but to find out that all three sons have it is extremely rare. The family continues to fight for a cure, and they believe that one day the boys will be able to live a normal life once again.
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