Vote 4 Hope at Pepsi Refresh To Find Cures for Rare Skin Conditions like Epidermolysis Bullosa, Harlequin Ichthyosis, Xeroderma-Pigmentosum

During the Vote4Hope Pepsi Refresh Rare Disease Campaign, I am making video postings throughout September to raise awareness for all rare diseases, not simply the horrific disease called Niemann Pick Type C that my six year old identical twins suffer from.

Today’s videos are some of the most heartwrenching videos I have ever watched. The videos are of  a boy named Garrett who suffers from Epidermolysis Bullosa, or EB, a rare genetic skin disorder the the majority of people have never heard of, yet it apparently affects 100,000 children across the United States to various degrees.

Children born with Epidermolysis Bullosa lack the ability to produce the collagen-7 protein that acts as a glue to bind the inner and out layers of skin together. Garrett, “The Boy Beneath the Bandages” videos won the 2010 Rare Disease Day video contest.

This video is a true life view of what living day-to-day is like with a rare debilitating skin disease.

Please VOTE everyday at Pepsi Refresh for the Global Genes Project to win $250K so we can continue efforts to help the entire rare disease community.  Join the Rare Disease team on Facebook.

Check out why I am taking time the entire month of September to get the word out for  rare diseases such Epidermolysis Bullosa and read the  press release to learn more about the lack of treatments and cures for millions of people.

There are a number of other rare skin conditions such as:

• Harlequin Ichthyosis – This is an extremely rare skin disease, caused due to a defect in ABCA12 gene. This disease is present at the birth itself. It is characterized by dry, scaly skin, which sheds 7 to 10 times faster than normal skin. The body is covered with fish like scales, which also have a hair growth on them. The scales are extremely hard and give the skin an armor like appearance. Herlequin ichthyosis is one of the rare skin disorders in children, which kills them within a few days of birth
• Sweets Syndrome or Neutrophilic Dermatosis – This condition is a result of hypersensitive response of the skin to allergens. The skin tends to develop plaques all over the body, in presence of the allergen. Fever and pain are the accompanying factors, along with skin rash.
• Morgellons Disease – This is yet another rare skin disease with an unknown cause. The condition is characterized by itching, crawling, biting sensation, underneath the skin
• Argyria – Argyria is a cosmetic skin disorder which occurs due to excessive consumption of silver
• Xeroderma-Pigmentosum – Xeroderma pigmentosum is a genetic disorder caused due to alteration of genes, responsible for normal DNA repair. As a result, the damage due to UV rays of the sunlight cannot be repaired. This leads to redness and itching of the skin, after sun exposure.
• Urticaria – Urticaria is an allergic response to sunlight, food, stress, water etc.

Pepsi Refresh Links For Vote4Hope, Vote 4 Hope Rare Disease Campaign

If you are looking for information on the Pepsi Refresh Vote4Hope Rare Disease campaign being run by the Children’s Rare Disease Network and Global Genes Project, here are the links and information you need to help fund hope for sick kids.

Click here for Pepsi Refresh Site Link – actual URL if you need it is:  http://www.refresheverything.com/fundhopeforsickkids

Text To Vote: Text to 73774 (Pepsi), followed by our voting code (102614) in the text message. You will then receive a confirmation text.

Click here for Facebook Vote4Hope Team: actual URL for Facebook is http://www.facebook.com/ivote4hope

Click here for Vote4Hope.org and meet our Rare Disease Kids Who Are ‘Ambassadors of Hope’ –  URL if you need it is: http://www.vote4hope.org/

Click here for Press Release about Pepsi Refresh Vote 4 Hope Rare Disease campaign.  Actual press release link if you need it is: http://www.prnewswire.com/news-releases/the-global-genes-project-aims-to-battle-rare-disease-through-the-vote4hope-campaign-and-pepsi-refresh-competition-101956358.html

Click here for Vote4Hope Ambassador or Angel badges – link if you need it is: http://204.42.150.181/vote-4-hope-widgets-and-badges/

Gleevec Cancer Drug Reported To Work In Alzheimer’s disease also working in Niemann Pick Type C mouse

A New York Times story is reporting that Paul Greengard (and his dog Alpha), who won a Nobel Prize for his work on signaling in brain cells, has found that the cancer drug Gleevec, is a new potential drug target for Alzheimer’s disease and blocks gamma secretase activating protein. Rudolph Tanzi and Paul Aisen are quoted in the article.

I think they would all be very interested to know that Gleevec is also working in Niemann Pick Type C mice and kids afflicted with this ultra rare condition are doing small personal trials with the drug.

Niemann Pick Type C disease is an ultra rare and fatal genetic cholesterol disorder caused by a double mutation on the NPC1 or NPC2 gene.  The disease is progressive neurological condition that causes dementia in children and is often referred to as the “childhood Alzheimer’s.”

Last year, in a comprehensive  drug screen conducted by Dr. Christopher Austin’s group at the National Chemical Genomics Center (NCGC), Gleevec showed up as a drug target for Niemann Pick Type C disease.

Dr. Brian Druker, an oncologist who revolutionized the treatment of cancer through research to develop Gleevec, is working with The Hadley Family in Medford, Oregon, who have two children suffering from Niemann Pick Type C disease. Novartis has offered to sponsor Gleevec for both of their children for a six month trial which is now underway. Children suffering from Niemann Pick Type C disease in Brazil are also taking Gleevec without any side effects.

Gleevec (also called Imatinib) has been studied by Dr. Silvana Zanlungo and Dr. Alejandra Alvarez of the Pontifica Universidad Catolica de Chile, and the results of their studies have indicated positive benefits in weight gain, strength and coordination in Niemann Pick Type C mice.  See the abstract: http://www.fasebj.org/cgi/content/full/22/10/3617 .  But only a very small amount of Gleevec crosses the blood brain barrier when given orally.  Imagine if you can do intrathecal?

There is also some evidence in the literature showing Imatinib effects on insulin resistance.  My twins have hypometabolism spreading throughout their brains and their PET scans show the pattern is very similar to early onset Alzheimer’s.

The Chile group has explored the relationship between Niemann Pick Type C neurodegeneration and the activation of the apoptotic system c-Abl/p73.  This system is formed by the c-Abl tyrosine kinase and p73 pro-apoptotic transcription factor. Both c-Abl and p73 proteins are expressed in the cerebellum, the brain region that is most affected in Niemann Pick Type C.

The Hadley’s have been leading the charge on getting Gleevec studies underway in Niemann Pick Type C mice. They have also been looking at Nilotinib, a tyrosine kinase inhibitor used for treatment of leukemia and other cancers.  However, Imatinib (Gleevec) I believe is working better in the mouse studies.

More and more scientific reports are coming out showing the relationship between Alzheimer’s disease and Niemann Pick Type C disease so I am not surprised that Gleevec could be a drug target in both conditions.

Dr. Kaj Blennow, a leading Alzheimer’s research in Sweden, has found Amyloid beta release is increased in Niemann Pick Type C. They are working on studies around γ-secretase and β-secretase and have found some data showing lipid accumulation affects Aβ metabolism. Amyloid metabolism in Niemann Pick Type C may be caused either by the impaired vesicular trafficking in NPC or by direct modulation by lipid alterations on amyloid processing enzymes (ie. gamma-secretase).

Another recent study by Alzheimer’s researcher Katarina Kågedal shows increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer’s disease.  The study measured NPC1 mRNA and protein expression in three distinct regions of the human brain, and it was found that NPC1 expression is upregulated at both mRNA and protein levels in the hippocampus and frontal cortex of AD patients compared to control individuals.

Further, Ralph Nixon’s work shows that Alzheimer’s might have a lysosomal storage component like Niemann Pick Type C disease.

Intrathecal Gleevec – this is an interesting idea!  Since we are pursuing intrathecal cyclodextrin treatment on the twins, intrathecal Gleevec treatment might also be another potential avenue we could explore.

Rare Disease Foundations Need To Vote 4 Hope In Pepsi Refresh

During the Vote4Hope Pepsi Refresh Rare Disease Campaign, I am making video postings on Addi and Cassi’s website to raise awareness for all rare diseases, not just the horrific disease called Niemann Pick Type C that I am fighting against on behalf of my six year old identical twins.

Please take a minute to watch this compelling rare disease video (if you found this posting, your rare disease might be in the video) and most of all VOTE everyday at Pepsi Refresh for the Global Genes Project to win $250K so we can continue efforts to help the entire rare disease community.  Join the Rare Disease team on Facebook.

Read why I am taking time the entire month of September to get the word out for all rare diseases and check out the  press release to learn more about the lack of treatments and cures for millions of people, including your rare disease.

In this video, there are people suffering from Congenital Central Hyperventilation Syndrome, Chromosome 6 Deficiency, Langerhans Cell Histiocytosis, Dandy Walker Syndrome, Citrullinemia, Krabbe Disease, Primary Immune Deficiency, Gaucher Type II, Patau Syndrome Mosaic or Trisomy 13, Haemangioma, Pallister Killian Syndrome or PKS, Erythropoietic protoporphyria, Spinal Muscular Atrophy Type 1, Spinal Muscular Atrophy Type 2, Recessive dystrophic epidermolysis bullosa, Bruguda Syndrome, NBIA Disorder.

Why Vote4Hope? How Kickstarting Cures For Rare Disease Through The Pepsi Refresh Project Can Help Kids

Last week, I thought about trying to raise $250k in the Pepsi Refresh Project for The Addi and Cassi Fund and for Niemann Pick Type C disease research but being part of something larger that can make a difference for millions of ‘rare kids’ is important to me.

That’s why I decided during the entire month of September, I will dedicate my time to raising awareness for all children who suffer from rare diseases and have no treatments or cures in sight.

According to the National Institutes of Health (NIH), there are approximately 7,000 different rare diseases affecting approximately 15 million children in the United States. This statistic does not take into account the number of children affected with rare disease in the Europe Union or around the world.

According to the FDA, over the past 25 years and since the passing of the Orphan Drug Act in 1983, we’ve had approximately 350 new drugs brought to market for all 7000 rare disorders despite the incentives by the federal government.

Think about this for a moment. 7,000 rare conditions. 15 million rare children in the United States. And only 350 new drugs for rare disease in 25 years? These are mind blowing statistics by any measure.

The Children’s Rare Disease Network and The Global Genes Project are inviting the public to ‘Vote for Hope’ at the Pepsi Refresh Project to kickstart treatments and cures for the millions of kids who suffer from various forms of rare diseases.  There is no better time than now to “Refresh Rare Disease.”

The Pepsi Refresh ‘Vote For Hope’ Rare Disease campaign begins September 1-30 and is designed to drive awareness for the unmet medical needs of the global rare disease community and to encourage pharmaceutical and biotech companies to get more involved in creating treatments for rare diseases.

The Global Genes team hopes for a chance at winning $250,000 to continue the Foundation’s efforts to bring awareness to the issues surrounding the lack of treatments for rare disease and intends to build a platform to help drive “cures in the lifetime of a child.”

That’s exactly what I want — treatments now for Addi and Cassi and for other kids suffering from debilitating and life threatening conditions such as Batten, Gaucher, Progeria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Williams Syndrome, Canavan disease, Joubert Syndrome, Epidermous Bullosa, Medulloblastoma, Ewing’s Sarcoma, Wilms’ Tumor, Krabbe disease, Pompe disease and Giant Axonal Neuropathy.

And that’s only a list of 17 of the 7000 rare conditions affecting children.

From rare neurodegenerative disorders to rare cancers to rare bone diseases, parents and families just like mine are all fighting for the same thing for our children – treatments and cures to keep them happy, out of pain, and most of all, alive.

Please join me during the month of September and take time out of your day to Vote4Hope at the Pepsi Refresh Project.

Millions of kids like Addi and Cassi are counting on us to show the world and Time Magazine that, “It Is Time We Paid A Lot More Attention To Rare.”

• Join the Facebook Vote4Hope team here

• Get a Vote4Hope Badge here

• Vote Now For Vote4Hope On Pepsi Refresh

 

 

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