Meet The Twins
Our names are Addison and Cassidy Hempel and we are 7 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. The disease is called Niemann Pick Type C (NPC) and the condition is frequently referred to as “Childhood Alzheimer’s.” NPC is ultimately fatal in childhood and we are in a battle for our lives.
Niemann Pick Type C is a genetic disease where harmful amounts of cholesterol (called lipids), accumulate in our spleens, livers, lungs and ultimately our brains. Every moment of everyday, cholesterol is getting stuck inside millions of our cells and causing a massive traffic jam inside our tiny bodies. As a result, Niemann Pick Type C causes progressive neurological deterioration with symptoms including dementia, seizures, ataxia and cataplexy.
FDA Grants Permission To Start New Treatment With Sugar Compound Called Cyclodextrin
Our parents have been on a quest to find new treatments to help save our lives. In April 2009, after months of work by our parents to set up a “virtual biotech”, the U.S. Food and Drug Administration (FDA) granted special permission to allow our doctor to give us intravenous infusions of 2-hydroxypropyl-β-cyclodextrin, a non-toxic sugar compound, into our bloodstreams. Cyclodextrin is added to many fat free products such as butter and salad dressing and millions of people ingest it every day. It also happens to be the main ingredient in Febreze Air Freshener.
In October 2011, the FDA granted permission to allow intrathecal injections of cyclodextrin into our spines to enable the compound to reach our brains. Our parents are currently working on a permanent pump solution to treat us and help keep us out of the hospital.
We were first children in the world to receive experimental treatment with cyclodextrin and are currently undergoing treatments at Renown Regional Medical Center in Reno, Nevada, and Children’s Hospital Research Center Oakland. More efforts are now underway to treat other NPC children in countries including Brazil and Japan. The National Institutes of Health is also pursuing a clinical trial.
Why Care? You Have The Niemann Pick Type C Gene Too!
Every person in the world is born with the Niemann Pick Type C gene and could not live without it. The NPC1 gene is located on Chromosome 18 and the gene regulates human cholesterol metabolism at the cellular level. We were born with major problems on this cholesterol gene which in turn 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 virus researchers have discovered that the Niemann Pick Type C gene helps both HIV-AIDS and Ebola infect humans. We are told by top scientists that because our cholesterol gene does not work, we can’t get infected with many viruses that infect people who have healthy functioning NPC genes.
According to Dr. Francis S. Collins, Director of the NIH, “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.”
How You Can Help?
Please take a moment volunteer to join our CureCaps hat making effort or make a financial contribution to help our parents continue to find innovative treatments for us and other kids. Or send us a wish for cure.
With everyone’s help, we can conquer cholesterol together and gain critical insights into the brain that could help millions of people.
We Dare To Dream!
Love,
Addi & Cassi Hempel
