Dementia is something that is usually associated with older people. However, children, teenagers and young
adults can experience dementia as a result of a number of rare diseases and conditions. Niemann-Pick Disease
Type C (NPC) is an example of one of these diseases, and one of its main symptoms is dementia. (Hinton et al, 2005)
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World Rare Disease Day 2012 is coming up on February 29th. Consider these staggering statistics. Each year, 139 BILLION U.S. dollars are invested in medical research — much of it from tax payers Each year, 800,000 papers are published in medical journals by scientists Each year on average, ONLY 21 new drugs are approved by […]
My life grows more surreal by the day. Four years ago, I was told that my eight year old identical twins have a fatal genetic cholesterol disease called Niemann Pick Type C (the “Childhood Alzheimer’s”) and they would likely not live to see their 10th birthday. Now I have learned from top virus scientists that […]
Well the first almost eight weeks of the boys taking NAC are almost over. We head out to the NIH on Jan. 28-30th to review thus far. They get to have a six week washout period starting next week and we are very excited. After giving Brisan 40 ml three times a day and Parker 36ml times a day for that time were not at all sad to have a break from the tedious work.
We get a lot of questions on how the boys are doing. I am glad that we do! It is always hard to answer because how do you relate what seems “normal” to us but really isn’t typical in other people’s eyes. How do you establish the difference in words? Brisan has been dealing with a cold/ now his sinus in his right eye. His sinus cavity is so full of polyps that we would have to do surgery every other week to remove them. Some days he just looks like a mac truck hit him! Wednesday Jenn had to take him to the ER because of seizures.
Parker just needs to be put into bubble wrap with an oxygen mask because he seems to be falling down a lot more. It is almost like his head is to heavy so when he attempts to run (which seems to be every time) he is having his body weight all shifted forward which makes him unstable. It is kinda of funny to watch him pretend to be a pirate or a fiery ball of energy. Like this week he fell down going into school and scraped his nose and guess what? He had a nose bleed!
They both have been having their weekly infusions of DDVAP. So far so good but those poor lil dudes are getting poked way too much. I don’t get to see nor deal with it because I am now working out of an office close to the house. I know they don’t like it and I know Jennifer and I feel helpless. It is certainly out of our hands.
So 2010 brings an interesting start. Unlike last year where we could pay our insurance deductible all up front because of the expensive Zavesca medication. Now we have to earn it the old fashion way this year. What I mean is we can’t just write one check and were good for the rest of the year (The cost was so much the deductible was met instantly and allowing us to owe that to one company not several). The unknown is how much additionally will we rack up in trying to meet that deductible in visits/ costs . A little nerve racking because dealing with either Humana or Medicaid is like dealing with mob, you seldom get your way with them. I would think we will have “degree’s” in insurance by the time we all done dealing with them.
At church last night we talked about if you knew how long you had left to live what “margin” would you leave in your life for the most important things? Certainly made you stop and think. How many times do we put things off because we can “make up the time later”. Something I found funny was when you arrive at the end of your life you can’t say “wait a minute I saved 6 months of life, I’m not ready to go!”. So if we can give the first 10-15 minutes of our day to God and say your welcome today in my life then it should help you more. That was comforting to know that something that simple could help the other aspects of our live even more.
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
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