Friday, April 28, 2017

CNN – Dr. Sanjay Gupta Chronicles Our Fight

December 1, 2014 by  
Filed under Featured Content, Featured Stories, Videos

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A Mother’s Quest – Dateline NBC Story 2009

December 1, 2014 by  
Filed under Videos

DATELINE Covers FDA Approval of Twins Cyclodextrin Infusions

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

September 2, 2010 by  
Filed under Videos

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.


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Rare Disease Foundations Need To Vote 4 Hope In Pepsi Refresh

September 1, 2010 by  
Filed under Videos

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.

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University of Notre Dame Airs Video During Football Game Highlighting Rare Cholesterol Disease

September 8, 2009 by  
Filed under Videos

Thanks to the University of Notre Dame for highlighting the Parseghian Family’s fight against Niemann Pick Type C disease during the Notre Dame versus University of Nevada Reno football game.   They have a true commitment to helping fight not only Niemann Pick Type C but rare disease of all types.

A number of people in the Reno area who are big football fans and who are supporting our upcoming fundraising event for Addi and Cassi brought the video to our attention.  Thanks to the Parseghian Family for continuing to put themselves out in the public eye and for fighting for our all kids with this horrible cholesterol disease that causes dementia in children.

For those people who have never heard of Niemann Pick Type C (NPC), it is a rare disease that causes degeneration of many parts of the nervous system, and involves the storage of cholesterol and other fatty molecules throughout the body. Understanding what is going wrong in cells in NPC and how cholesterol is involved may well lead to treatments not only for NPC patients, but for other suffering from more common neurologic disorders like Epilepsy, Dystonia, Ataxia and Alzheimer’s disease.

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