A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Friday, October 26, 2012

Blood Test for NPC

October is Niemann Pick Disease Awareness Month.

How do you diagnose Niemann Pick Diseases?  Type A and B can be done with a blood test and a waiting period of several to see if the test is positive.  Type C has a skin biopsy as the approved method.  There is a blood test available but (as of now) I don't believe it has been approved to diagnose Type C.

Here is a video discussing the NPC blood test.

Dan was tested for Type A and B when he was less than one year old.  Both came back negative.  I don't ever remember discussing the skin biopsy test for Type C with the doctors.  When Dan started showing more symptoms in February 2011, the doctor finally mentioned testing for Type C.  Up until that point we were under the impression that he had been tested for it (and in some way he had been....just not the right type).  The doctor never completed the prior approval paperwork to do the test.  In late April or early May I contacted our specialists in Boston for help.  The paperwork was completed and submitted.  The insurance company denied it.  I was getting ready to appeal the decision when we were admitted to Boston Children's.  While an inpatient the blood test and skin biopsy tests were completed.  Under an expedited request, we had results 8 days later on the blood test - POSITIVE. 

We found out later that the skin biopsy showed a different diagnosis, which was reviewed after the blood test and found to also be POSITIVE for Type C.

The ultimate goal is to have this as part of newborn screening.  It took us 4 1/2 years to get a test which provided a diagnosis in a week.  Typically the blood test takes a few weeks. 

Would you want to know at birth that you only have a short time to enjoy?  I would have.  There are so many things that we would have done differently had we known.


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