A Rare Lysosomal Storage Disease

Desmopressin (DDVAP) Infusions for Platelet Dysfunction Disorder

Desmopressin (DDVAP) Infusions for Platelet Dysfunction Disorder

Brisan and Parker Stults are our two eldest sons'. In combination with Niemann-Pick Type C disease they also have an underlying Platelet Dysfunction Disorder that when they bleed they have a severe delayed clotting time. Essentially the clot won't stick and creates a very time consuming situation to control. Typically in Niemann-Pick Type C (NPC) patients bleeding isn't associated with the disease in this regard. It has been brought up as a concern with a handful of other affected families.

For Brisan and Parker the understanding is NPC is not the complete picture of the issue but is something additional that they have. Although patients with NPC suffer a great deal of loss and affects everything most people take for granted, they can still have additional issues on top of NPC.

Several times the comparison has been presented to us for Von Willebrand Disease but every test comes back negative or inconclusive. Thus far it is being treated as an undiagnosed Platelet Dysfunction Disorder. One drug that they inject intravenous is Desmopressin also known as DDVAP. It's original purpose is to help people who have issues bed wetting. What they discovered was it helped temporarily boost the Von Willebrand factor in the blood.

Here is a quick video from the infusions on Thanksgiving 11-25-2010. Unfortunately our last infusion is 11-29-2010 due to one of the two manufacturers closing their plant down. So this creates a shortage and is on indefinite hold until. We are currently in “limbo” on what other options that exist. So far DDVAP was the only one that worked efficiently.

Desmopressin (DDVAP) Infusions | Niemann-Pick Type C | Brisan & Parker Stults from Michael Stults on Vimeo.

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