Mitch

Rare Disease Campaign

2011-02-12T12:44:00.000-08:00

February is Rare Disease Awareness month! Wear jeans in support of "Jeans for Genes"and the Global Genes Project.

Clinical Trial

2010-02-25T15:29:00.000-08:00

Mitch and I flew out to Bethesda, Maryland at the end of January to be a part of a clinical trial being done at the National Institute of Health for NPC patients. They are testing a supplement called N-Acetylcysteine or NAC which has been shown to be a potent antioxidant, detoxify the liver and aid in post exercise recovery in healthy people. In NPC patients, the hope is that it will help fight damage from oxidative stress on the cellular level and protect the liver from further damage.

Right now Mitch is in the middle of the first phase, he is recieving a tablet three times a day. We don't know if he is getting the placebo or the actual supplement. Each phase is 8 weeks and because it is such a short time we probably won't see much change physically. We are doing blood draws every two weeks and mailing them back to NIH for analysis. In phase two he will get the opposite of what he is getting now. Its a small step, but the fact that there is some research being done for a treatment and being a part of it keeps us hopeful.

On a lighter note, we took Mitch to Las Vegas last week for his 21st birthday. We had a good time and initiated him to gambling!(but no drinking!!!)

Update

2010-01-13T15:01:00.000-08:00

So, I thought I had posted stuff after 10/9/09, did the time go by that fast??

An update on all the fundraisers we did in October. I got a list from the NNPDF showing donations made in honor of Mitchell as of 12/15/09. We raised over $4,000 with the friends and family letter mailing and $1000 with the recycling drive. Thank you to everyone who showed their support by sending in a donation, dropping off recycling and/or supporting our Golden Spoon yogurt fundraiser. And of course, thank you for your continued prayers and encouragement!

Mitchell is doing fine. He just started with a new personal trainer 3 times a week to help him with strength and balance. He seems to like it and never complains. Of course getting his favorite Starbucks drink, a Venti Peppermint Mocha Frappichino, after his workout is a good incentive too!!

Mitch and I are getting ready to go to the National Institute of Health in Bethesda, MD. for a new clinical trial. This trial is to test a supplement to see if it has any benefit to NPC patients.

More about that later.

Hope everyone's new year started out great and continues to be a good year!

Persevering for a cure.......

Local Press release

2009-10-09T11:07:00.000-07:00

Our fundraising efforts have been published in today's edition of the Simi Valley Acorn (a free community paper) and online at the Ventura County Star under local Simi Valley News, "your news" feature. The links are attached.

http://www.venturacountystar.com/news/yournews/yn-simi-valley/

http://www.simivalleyacorn.com/news/2009-10-09/Health_%28and%29_Wellness/Rare_disease_inspires_local_family_to_raise_money_.html

Golden Spoon Frozen Yogurt Fundraiser

2009-10-01T08:52:00.000-07:00

On Friday, Oct. 16th AND Sunday, Oct. 18th, visit one of the five participating Golden Spoon Frozen Yogurt stores in Simi Valley, Thousand Oaks(2), Agoura and Newbury Park; mention the NNPDF fundraiser and 20% of your purchase will benefit the NNPDF. For the addresses of the participating stores click on the link: http://www.goldenspoonvc.com/stores/.

If you want flyers for this event to pass out and share through email, please send me a request at tab1095@sbcglobal.net and I will email you a copy.

Stella and Dot Fundraiser

2009-09-23T08:16:00.000-07:00

My friend Lisa is doing a jewelry fundraiser for NNPDF from now until the end of October.
15% of the proceeds will go to the National Niemann-Pick Disease Foundation.
To shop this fundraiser, go to www.stelladot.com/lisasepe and click on Find your Hostess in the upper right corner. Type in Terri Brubaker as hostess and you will be able to shop the catalog and your purchases will be counted toward the fundraiser.
Thanks!!!

Cans for a Cure

2009-09-15T16:34:00.000-07:00

October is NPD awareness month. So I am organizing an alumimum can drive to raise funds for the NNPDF. Between now and the end of October please save your aluminum cans and we will collect them and take them to the recycling plant. I plan to do the collections on Oct. 30 and 31st at various locations in Simi. There will be more details to follow.
Please ask your friends, neighbors, church groups, places of work, etc. to set aside their aluminum cans for this cause. I can do pick ups throughout the month if needed. Please email me if you have any questions. Also, if you don't live in the Simi Valley area but would like to help with this can drive in your community, please email me for more information at tab1095@sbcglobal.net. Please, help us spread the word about this cause and raise awareness and funds.
Thank you for your support!!

Research on NPC at Notre Dame University

2009-09-09T13:00:00.000-07:00

http://video.nd.edu/204-fighting-for-the-lives-of-children

The above video is about the research that is being done at Notre Dame University through their Center for Rare and Neglected Diseases. The former football coach at NDU, Ara Parseghian, suffered the loss of three of his grandkids to NPC. To read more about his story, the link to his foundation is: http://www.parseghian.org/

Awareness and Research

2009-09-03T16:08:00.001-07:00

NPC is a very rare genetic disease. There is no treatment or cure. It affects mainly young children who are diagnosed at a young age and rarely live past their teen years. Awareness is crucial for such a rare disease in order to raise money for research for treatment and a cure. This is why we are going public with Mitchell's story. We need to take a proactive approach and focus on the difference we can make with this disease, instead of focusing on the neuro -degeneration that will eventually happen in Mitch. And maybe, before it is too late, there will be some treatment or cure that will save him.
If you want to know more about this disease and see how you can help, please click on the link http://nnpdf.org.
We also plan on doing some fundraising within our community, so please check back for updates and info.

Back Story

2009-08-25T11:16:00.000-07:00

Mitchell was diagnosed with Niemann-Pick disease type C in December 2008. He had been having medical issues since he was about 13 years old. We noticed slightly slurred speech, a little clumsiness, and minor memory problems. At about 15 he started having drop attacks when he laughed. This affliction is called Cataplexy and causes loss of muscle tone whenever he laughed.

Along with these symptoms we noticed his fine motor skills began to change and slight problems swallowing. Finally the doctors were able to put all the symptoms together and test him for NPC. NPC is a lysosomal storage disease in which excess fats and cholesterol are not properly metabolized in the cells of the brain and other organs. This causes a buildup in the cell and eventually kills the cell. The effect of brain cells dying causes the neuro-degenerative symptoms. It is a progressive disease, but there is no way to measure how it will progress in each individual patient. Mitchell's symptoms are relatively minor at this point, he can still walk on his own, talk and eat. He has a little difficulty with these things but if you didn't know he was sick you might not notice.