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.

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.

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

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.

CNN Covers How California Health Care Budget Cuts Threaten Life of Little Girl Suffering From Deadly Cholesterol Disease

Here is a story on sweet little Jessica Leoni who suffers from the same disease as Addi and Cassi. Her health care is being threatened by California’s Health Care crisis. Here is the story from CNN.

LOS ANGELES, California (CNN) — Anthony and Lisa Leoni have little time to worry about whether California’s budget crisis will affect their daughter’s life-sustaining care.

A steady stream of nurses, caregivers and therapists visit 12-year-old Jessica at home around the clock. Jessica suffers from a rare and fatal disease called Niemann Pick Type C. A cholesterol imbalance destroys healthy cells in the liver, spleen and brain.

Although Jessica led a relatively normal life before the illness worsened, her mother always knew the disease would eventually take over.

“Jessica was playful, happy and loves people. My heart was always a flutter because you never knew how many moments you’d get,” Lisa Leoni says.

In Jessica’s case, a grand mal seizure suffered Memorial Day weekend 2005 brought a world of hurt to the Leonis.

At the height of her symptoms, Jessica suffered up to 60 seizures a day. The disease, also known as NPC, has stolen her ability to walk, talk, eat or even breathe on her own. An oxygen machine pumps air into her lungs around the clock.

Anthony Leoni knew they needed help.

“If you told us 10 years ago this is how your life is going to be, I would have said we’re not capable. We don’t have the training, ability, we don’t have the energy, we don’t have the stamina.”

They found Bill Feeman of Westside Regional Center.

“When you walk into this home and you see Jessica, [you] just fall in love with her,” Feeman says. “She is a sweet soul — you see her, she’s physically helpless, yet there’s a light that shines out of her eyes, it takes you in.

“When you meet this family and you see how hard-working and involved they are, you just wanna do everything you can to help.”

Feeman worked to find in-home support in the form of nurse caregivers, therapists and medical supplies.

“This family also has all the normal responsibilities of raising a family. They have to pay their mortgage, they have to feed their family, they have to go to work. So when you have someone as medically involved as Jessica is, and you’re talking about all that worriment and responsibility of your child being ill and on top of that you still have to … bring home a paycheck every week in order to pay your bills, you need a lot of help.

“You have to be awake at night with Jessica. She cannot be left alone for even five minutes where someone is not awake and attentive to her needs. So you’re looking at a family, who when I first met them a year ago had some help in the home but nowhere near enough and they were exhausted. They were trying to be caregivers, nurses, doctors, and then get up and go to work during the day and still support their family.”

“We pieced all these programs together. We finally got everything in place where they can be parents again, which is a wonderful thing. And that’s what scares me about these budget cuts … it scares me a little bit that things might start moving backwards.”

One of those caregivers is Carmen Bailey, a certified nurse assistant and home health aide with Caring Connection. She has been working with Jessica for more than two years.

“It’s been an experience. I call her my angel. I bathe her, groom her, position her, massage her to make her comfortable.”

Carmen may be affected by the budget cuts.

“I also have to live to keep on going. I know I will still be here and whatever I need to do extra I’m willing to do it for the family and Jessica.”

Westside Regional Center is one of 21 state regional centers providing services literally from birth to death.

They work with people diagnosed as developmentally disabled, including those with cerebral palsy, epilepsy, autism and mental retardation.

Mike Danneker is executive director of Westside Regional Center.

“Our budget is in the 4 billion dollar range for about 240,000 clients in California,” Danneker says. “Westside gets about 140 million dollars a year and we have about 7200 clients.”

He believes the California budget fix will cut a half-billion dollars statewide from their budget.

“It’s going to affect everybody. Camps, therapies like art, horseback riding, some of the things people have done for decades will be gone. We’ll have to cut back the number of hours to about 300 hours a year. We estimate 40 percent of California clients have over 300 hours a year.”

Anthony Leoni has this to say about impending cuts to Jessica’s life-sustaining care.

“It’s absolutely frightening to think about what happens if the services go away. They’re absolutely essential to keep Jessica going.”

Jessica’s childhood friend Kristina Carmickle stands by her bedside.

“We did a lot of tap (dance) together, that was Jessie’s favorite. Once you have a friendship that’s big enough, you’re always wishing for the best.”

Anthony Leoni sums it up this way: “We know that there are other families that have challenges similar to us, sometimes even more dramatic than ours, and if we can serve a purpose or a role to help bring the awareness to public what it takes to take care of a family like ours, then we’re willing to make that effort.”

What Dying Kids Can Teach Our Government About Health Care Reform

Addi & Cassi Story II from Addi & Cassi Hempel on Vimeo.

Here is a video we put together for Oprah last year about the issues we are facing with health care and drug development system in the United States and what happens when your children are dying from a rare and fatal cholesterol disease like Niemann-Pick Type C (NPC). This video was made when our twins Addi and Cassi could still talk and sing — they have lost this ability due to “Childhood Alzheimer’s.” I hope everyone in government will watch this video and look at our website to understand why the entire health care process is broken, especially drug development. Would someone please forward my video and website to Nancy Pelosi, Harry Reid, Arlen Specter, Kathleen Sebelius, President Barak Obama and others.

Rare diseases that afflict children like the cholesterol disease Niemann Pick Type C could lead to treatments and cures for millions of people. When will anyone pay attention? Maybe this year Oprah will consider covering Addi and Cassi since the cyclodextrin we are giving Addi and Cassi not only might save them from this deadly cholesterol disease but all kills the HIV-AIDS virus!!

Next Page »