Meet Addi and Cassi Hempel - We Have Niemann Pick Type C Diease and Have Tested Positive For The XMRV Virus
Our names are Addison and Cassidy Hempel and we are 6 year old identical twin girls who live in Reno, Nevada. In October 2007, after a two year medical odyssey, we were diagnosed with a ultra rare and fatal cholesterol disease that affects only 500 people worldwide. It’s called Niemann Pick Type C (NPC) disease and is frequently referred to as the “Childhood Alzheimer’s.” In September 2009, we learned that addition to having Niemann Pick Type C disease, we have an active XMRV retrovirus infection.
Niemann Pick Type C is a genetic disease where harmful amounts of cholesterol (called lipids), accumulate in our spleens, livers, lungs, bone marrow, and ultimately brains. Every moment of everyday, cholesterol is getting stuck inside millions of our cells and causing a massive traffic jam in our bodies. As a result, Niemann Pick Type C causes progressive neurological deterioration with symptoms including dementia, seizures, ataxia and cataplexy. NPC is ultimately fatal in childhood an there are limited treatments and no cure.
XMRV is a newly discovered retrovirus and a member of the same family of viruses as the AIDS virus. These viruses carry their genetic information in RNA rather than DNA, and they insert themselves into their hosts’ genetic material and stay for life.
We are in a battle for our lives and we are faced with losing critical functions including the ability to walk, talk, eat, and even remember the name of our favorite stuffed animal, “Max “ the golden retriever.
FDA Grants Permission To Start New Treatment With Sugar Compound
Our Mom and Dad have been on a quest to find new treatments to help us. Last year, we underwent unprecedented PET brain scans at Children’s Hospital Michigan. Our brain scans show that we have a glucose metabolism problem in the frontal lobe of our brains and inflammation in the basal ganglia regions of our brains. Many doctor’s believe that inflammation plays a key role neurological diseases ranging from Alzheimer’s to ALS to Parkinson’s. Currently, we are taking an off label experimental medication called Zavesca which costs $160,000 per year.
In April 2009, after 18 months of intensive work by our parents to set up a “Virtual BioTech” to find us near term treatments, the U.S. Food and Drug Administration (FDA) granted special permission under its “compassionate use” program to allow our parents and doctors to give us intravenous infusions of 2-hydroxypropyl-β-cyclodextrin, a non-toxic sugar compound.
Cyclodextrin is added to many fat free products such as butter and salad dressing and millions of people ingest it every day. It also has the ability to grab cholesterol from cells in a petri dish and may be able to help get trapped cholesterol our of our bodies. We are the first children in the United States to receive experimental treatment with cyclodextrin and are currently undergoing infusion treatment at Renown Regional Medical Center in Reno, Nevada.
Cyclodextrin is also known to killsthe HIV-AIDS virus and we believe it might kill the XMRV virus too.
Why Care? You Have The Niemann Pick Type C Gene Too!
Every person in the world is born with a Niemann Pick Type C gene and could not live without it. The Niemann Pick Type C gene is located on Chromosome 18 and the gene regulates human cholesterol metabolism at the cellular level. It just so happens that we were born with major problem on this cholesterol gene which causes our fatal disease. Some doctors believe Niemann Pick Type C and Alzheimer’s could be connected due to cholesterol and lipid issues (see The Scientist Magazine article, November 2008) while HIV-AIDS researchers have discovered that the Niemann Pick Type C gene helps the deadly virus replicate in infected people as HIV AIDS needs cholesterol to survive.
According to Francis S. Collins, M.D., Ph.D., former Director of The National Human Genome Research Institute in a paper, “While many of the genes we will initially be pursuing are responsible for rare disorders, what we learn from rare disorders often has profound consequences for our understanding of more common conditions.” Someday we might be able to help you or someone you love.
How You Can Help?
Please take a moment volunteer to join our CureCaps hat making effort or make a financial contribution to help us continue to find innovative treatments. With everyone’s help, we can conquer cholesterol together and gain critical insights into the brain that could help millions of people. And one final request which is very important to us. Please send us a wish for cure.
We Dare To Dream!
Love,
Addi & Cassi Hempel
