Everybody Has a Story - Day 15: Nathan

This is kind of a long post, but please read it all--it is so important.

This is Nathan. He has a rotten, yucky, genetic disorder called Neimann-Pick Disease.

Nathan is one special kid. He has the best attitude and outlook on life. I've known him since the year before he was diagnosed, but we wanted to spotlight him on our blog because the world needs to know more about Neimann-Pick.



It started the summer between kindergarten and 1st grade. He was at the Pediatrician's office one day when the doctor noticed his stomach was bigger than it should be. As it turned out, Nathan had a spleen the size of a football!

Thanks to his spleen and Dr. O'Byrne, a general surgeon here in town, Nathan is alive and well today. Although his spleen was way, way, way, bigger than it should have been, Dr. O'Byrne knew it needed to stay in until a diagnosis was made. After $18,000 in lab bills, a week in the hospital, and a trip to Primary Children's Hospital in Salt Lake, a diagnosis was finally made. It was Neimann-Pick. Today Nathan was helping me remember the pieces to his story. He reminded me that it was the "bow and arrow" (translation: Bone Marrow biopsy) that solved the mystery.

We also talked about the time that Julia (my daughter and Nathan's friend) and I took him for a blood test at the hospital. He had just had some drawn that morning, but the lab called and said they needed more. His Mom and Dad were working, so Julia and I took him. Nathan was so brave!!! He just sat there patiently and didn't fuss. I couldn't believe it. In the 15 years I've worked in the medical field, I've never seen a kid be able to do that. Never!


Nathan has Type B Neimann-Pick Disease. It is caused by the deficiency of a specific enzyme, acid sphingomyelinase (ASM). This enzyme is found in special compartments within cells called lysosomes and is required to metabolize a lipid called sphingomyelin. If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems.

These are his sisters. Both girls are carriers for Neimann-Pick. Because it is a genetic disease, both parents must be carriers of the gene. It is VERY rare to be a carrier and unfortunately it isn't anything that is routinely tested for.




Nathan still has his spleen today. It acts like a filter for the "bad cells" and they get trapped in his spleen. If his spleen had been removed, those cells would have ended up in his lungs or brain.

Sadly, many children diagnosed with Neimann-Pick die. We are so glad that Nathan is doing well. He has stomach aches occasionally and can't play sports because his spleen might rupture. But hey, as Nathan says "I like to play with all the cute girls at recess". What could be better than that?

To learn more about Neimann-Pick, visit their website at www.nnpdf.org
Their vision is a world where Niemann-Pick Disease is no longer a threat to a full and productive life for patients and their families. The foundation is selling bracelets to raise money for a cure. They are getting close! They are in the middle of trialing medication that will hopefully help those with the disease.


On the way home from our photo shoot, we stopped to get a snow cone. "Barbie" flavor for the girls and "Dragons blood" for Nathan--all a yummy mix of watermelon and passion fruit. The kids started telling me about what they want to be when they grow up.
Nathan: I'm going to be a cop!
Me: Oh yeah? Do you watch those cop shows on TV?
Nathan: Yeah, but my Mom doesn't let me :)
Little sister: I'm going to be a princess--like Tinkerbell!
Nathan: You should have Julia teach you how. She was a princess once. I'm pretty sure
Big sister: I'm going to be a child and family counselor


Love you all kid-o's. Keep being brave Nathan. Persevere.