Here are pictures from some of our Christmas with Brisan, Parker, Duncan and the whole family! Enjoy!

Three days was enough time for us to be in Bethesda, MD at the NIH! We were thankful that we didn’t have to spend all day Thursday & Friday running around with our head cut off!  Last night we had an opportunity to eat dinner with friends from KC that moved to DC for work! It was a fun time!

Since we had a baseline from earlier this year with the Natural History Study we didn’t have to do a lot of tests so to speak. Brisan and Parker did the usual blood pressure, height, weight check. They took an Olympic size pool of blood from each of them along with a urine sample to see if they are using performance enhancing drugs. No not really! Also we don’t have the boys on any type of non prescribed remedies which helped us in getting this started relatively quickly.

So here is an example that I pulled from the NNPDF’s site that shows how this crossover study will work. They are trying this with 30 patients and hope to be done by August 2010. The skinny on this is we don’t know which one will have the NAC and who won’t. We will give this to them three times daily. The pill looks and acts like a alka seltzer tablet when we drop it in water!  The idea on the study is to see not only can they validate some promising biochemical markers but reduce the oxidative stress on the cells. Oxygen cells accumulate to cholesterol and since Niemann-Pick Type C Disease cholesterol plays a big part in it these oxygen cells are putting more stress  on the cells. Of  course they haven’t figured out a way to solve the main problem but if they can treat some of the trickle down effects then this could be a possible portion of the cocktail of remedies to attack this monster. This is how I understood it.

Here is a video of Brisan and Parker from our trip.

Tomorrow morning we set out on a journey across the country to start a new drug trial they call the Biomarker Validation for Niemann-Pick Disease, type C: Safety and Efficacy of N-Acetyl Cysteine at the National Institute of Health in Bethesda, MD. This clinical trial will hopefully lay the groundwork for future therapeutic trials. You can  read more about it here (I’ll spare you from me trying to explain it): http://www.nnpdf.org/NPCClinicalTrialOpportunity.html.

Brisan and Parker also started on November 23rd weekly infusions of DDVAP which has been used for completely different reasons but they have found that it helps elevate your Von Willibrand Factor which contributes to helping your blood clot. As some of you may know they both have an issue with clotting with a underlying bleeding disorder that they have not been able to pinpoint exactly. The weekly infusions will hopefully allow them to clot faster therefore keeping the sanity in the house!

As parents it is frustrating not only because your child doesn’t understand why you have to hold their nose “forever” but it always happens at the wrong times! Stay tuned about more info on the NAC trial and updates!
Dad