Posts Tagged ‘Niemann-Pick Children’s Fund’

A Month In Review

It's been about a month since we last updated the world as we know it. For our 501(c)3, the Niemann-Pick Children's Fund, we have been busy trying to orchestrate our Vegas Casino Night on November 11, 2011 at the Hilliard Art Gallery in the Crossroads district of down town Kansas City, MO. Challenging at times because we are already fighting an uphill battle with a disease that no one particularly knows about. It could be better if the boys had cancer or something because more people would understand much faster. When people ask, it is hard not to give a slightly longer answer to “what is it?”. I know people close to us have a slight difficulty answering that question because they aren't as versed in the subject as me and Jennifer. That is quite OK. It isn't something we should necessarily be experts in. You know? We are thankful for those of you that show us support.

We have a special quest attending our Vegas Casino Night. Matthew Lesko will be in town. Here is the press release that Evans Media Group typed up: http://pressreleases.kcstar.com/?q=node/69623

Matthew LeskoWe are still hoping to sell a good portion of tickets this week. Also challenging is in planning for catering and the beverage area when most folks are choosing to wait at the last minute or even at the door. Now that isn't being negative because I understand. So we are attempting to move forward and do the best facilitating the event. You can purchase your ticket here: http://www.NPCFund.org/VegasNight.

 

The Dudes

Brisan has been back to school for about a month now after his August debacle with this health. He has been doing much better. We had an incident about 3 weeks ago where one of our nurse's was allowing Brisan to walk around  and he somehow fell and fractured his pelvis! We have been trying to keep him off of it as much as possible. I think he may be OK but Jennifer was gone and I was upstairs working when I heard the nurse calling for me. Either way I was upset at the situation because it shouldn't have happend. I remember when he broke his leg back in 07'… that was a huge turning point and set back for Brisan.

Parker has continually been having his seizures but doing good. It seems like he is quietly slipping away because he doesn't have the crazy health things come up like Brisan does. Still giving those little smiles and being “mr. stinky”. He doesn't walk around very well. At home we don't allow him to try to walk around much. About a month ago I had him stand up and he got a big smile while I was holding his left arm…he dropped like a crumbling tower without any notice. Just can't have that be happening, you know? At school they both get physical therapy and Parker gets it once a week at Children's Mercy Hospital.

Duncan is a joy. He seems to display being very intelligent and smart. He picks up on things quickly. He still does have some slight challenges but nothing compared to Brisan and Parker. We'll take it! Duncan is very imaginative and is loving his Transformers. He was Optimus Prime for halloween.

Duncan and Mike Halloween 2011

Gavin Lopez

Our dear friends Kristen and Fernando Lopez of Little Elm, TX lost their little champ Gavin to Niemann-Pick Type C disease on October 30, 2011 around 9am. Jennifer went down this past week to lend her support and love to help them out. Although it is really a preview into our future, they became good friends and it was the right thing to do to show support. It just happen to work out for us to do so. Please also say a pray for their family that they find comfort with their loss.

We lost 3 precious souls this past 1.5 weeks to Niemann-Pick. http://nnpdf.org/aboutus_14.html

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Lots of Planning For Niemann-Pick

Life has been extremely busy for all of us. Brisan and Parker have been attending summer school a few days a week now and should be down soon. Duncan has been really growing up. He will be a peer model coming next month at school! Jennifer has been plugging away at school! Read the rest of this entry »

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It’s The New Year!

Wow, it's 2011 already. Seems like we just were starting 2010 and feeling funny about writing “10” on the end of our dates. ha

Christmas was incredible this year and we have so many things to be thankful for! Brisan & Parker started school on the 4th. It feels very nice to be back into a routine of some sorts. I can tell they are happy to. We have some new medications to try this month which is always fun. I think they are walking experiment labs…

Duncan still is being a cute little boy. He walked up to Jennifer last night and hugged her saying “your best mommy'! Ahhhhhh We've been potty training him and he is making progress. Sometimes he would rather hold it. He's getting pretty close to the world record I think… JK.

For our non profit Niemann-Pick Children's Fund, we have some lofty goals this year. We also have some projects to help raise more awareness. No matter what, this all benefits everyone affected with Niemann-Pick Type C. So I hope others in our disease community and other groups realize that.

Thank you for a wonderful 2010 in praying, loving, and keeping us in your thoughts. We're humbled each and every day for the support you truly provide for us!

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Video of Brisan & Parker | Niemann-Pick Type C

Here is a quick video we put together for Brisan and Parker in regards to promoting Niemann-Pick Type C disease. Many of you might have already seen this on Facebook or from another source.



[ Video link: http://bit.ly/egmBKX ]

As your watching the video please think of creative ways you can help spread the message. It might not be monetarily with the Niemann-Pick Children's Fund but it could be through other random acts of kindness. Keep in mind that Niemann-Pick Type C holds a lot of valuable information that could unlock doors to other common diseases that are cholesterol related.

Thank you for taking time to read this post and watching our video.

You can find us on Facebook [ Niemann-Pick Children's Fund ] : Niemann-Pick Children’s Fund

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What is Niemann-Pick Type C?

Just something I put together about three weeks ago to put on my LinkedIn profile about Niemann-Pick Type C.

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Why Rare Diseases OUR Important

How many times have you been looking for something at your house but you accidentally find something you previously were missing? Wouldn’t it be a shame if the prize you were seeking was within reach but you discounted that it could be that easy? What if understanding Niemann-Pick Type C disease opened up the door to help millions of Americans with other disorders involving cholesterol? Of course nothing in life is easy nor will it always be within reach. With being human comes the tendency to make oversights.

200px-Nuvola_apps_importantIt has been almost 13 years in July 2010 that the NPC1 gene, on Chromosome 18 for Niemann-Pick Type C was shared with the world on its discovery. This was a huge step and monumental discovery with associating cholesterol with a certain gene/chromosome at that time. To arrive at this point, it took decades of work which shed an abundant light into how a cell metabolizes cholesterol. In short, Niemann-Pick Type C causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells.

From a press release dated July 10, 1997 from Bethesda, MD:

“This discovery is an excellent example of how research on rare brain disorders often pays off in other ways,” says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS). “By identifying this gene, we not only take a crucial step forward in understanding this devastating disorder, but also gain insights into problems that affect every one of us.”

In 2001, cardiovascular disease was responsible for more than 39 percent of all deaths in the United States (American Heart Association: Heart Disease and Stroke Statistics 2004). Atherosclerosis is a disease where plaque builds up in your arteries. We all know those aren’t important to our lively hood at all. OK, just joking but plaque is made up of fat, calcium, cholesterol, and other substances found in our blood that over time builds up but hardens in the passage ways of our arteries. Imagine if you’re driving through a two way tunnel but one side is now closed off?  It would be kind of hard to get through to the other side in a timely and relaxing manor with additional objects in your way? Just like that situation, this affects how we get our blood to important areas in our bodies. With millions of people dying each year, this is a huge number of people. What if Niemann-Pick Type C could provide some insight?

Alzheimers55Other diseases such as Adult onset Alzheimer’s, Stroke, Cystic Fibrosis, Duchenne Muscular Dystrophy, and even HIV-Aids will benefit from the research into Niemann-Pick Type C. Did you know that children can experience dementia to? Crazy to imagine because most of us think that only our elderly family members get that! With the combination of deaths due to these diseases, could you imagine if we had a more collaborative research environment? Unfortunately big companies aren’t going to sacrifice revenue opportunities to help a blip on the radar screen but they will invest if they see it helping thousands of people; this means a return on their investment. This reality is sad but true.

Rare diseases OUR important to you, me, and everyone we know. Each of us has a Chromosome 18 that is vital to us being a living human being.  I encourage you to help out in some way. That could be donating to several charities that fund research for NPC like the National Niemann Pick Disease Foundation, Ara Parseghian Medical Research Foundation, Hide and Seek Foundation or the Niemann-Pick Children's Fund. That could be becoming and advocate in lobbying our government for better health care. It could be you just passing the word and spreading awareness.

We all are in this together and have been affected in some way by one of the diseases mentioned in this post. One person can make a difference in the world and that person could be you.

Additional Resources:

*All pictures belong to their respective parties.

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