We hope that by reading our story, more people will understand the significance of the Niemann Pick Type C gene in the human body and how children with this genetic disease might someday help millions of people with cholesterol-related diseases.
In October 2007, my husband and I received life-threatening news about our cholesterol – but our lives weren’t in danger. We learned that we were born with a defect in a critical cholesterol gene and that our precious six-year-old identical twin daughters, Addi and Cassi, inherited a double mutation – both genetic cholesterol defects.
For 18 months, I’d known something was seriously wrong and had been searching for answers. Out of nowhere, Addi and Cassi started stumbling and falling down (I later learned this is called ataxia). Then they started slurring their words (dysarthria). When they started forgetting their ABCs and nursery rhymes (dementia), the doctors started connecting the dots.
Our hearts were shattered when Addi and Cassi were diagnosed with Niemann Pick Type C disease, which was caused by the double genetic mutation. We were told that they would likely die in childhood from a progressive neurological condition caused by cholesterol accumulating in their cells, specifically their brains. There was no approved medication to treat the condition and not much we could do. We were devastated.
After a few weeks of crying jags, I decided to fight the enemy – cholesterol. I wasn’t going to spend years watching my beautiful girls wither away before my eyes. I contacted researchers, searched medical Web sites and started learning everything I could about cholesterol, genetics and the Niemann-Pick Type C gene on Chromosome 18.
In my search, I found a scientific paper that mentioned a non-toxic compound called Cyclodextrin that can extract cholesterol from cells. Research in NPC-afflicted animals was showing promise. This small glimmer of hope was all I needed.
For the past two years, I’ve been working full-time to move Cyclodextrin research forward. In April 2009, the FDA allowed our doctors to give Addi and Cassi intravenous infusions of Cyclodextrin. The twins are the first people in the United States to receive this experimental treatment. It’s too early to tell whether it will save their lives or if it might help others with cholesterol-related illnesses.
Some doctors believe Niemann-Pick Type C and Alzheimer’s could have a connection due to lipid malfunctions, while HIV-AIDS researchers have discovered that the Niemann-Pick Type C gene and cholesterol help the deadly virus replicate in infected people. Many top researchers are actively studying the Niemann Pick Type C gene, including Nobel Laureates Drs. Brown and Goldstein, who co-discovered the LDL receptor. Their work on the LDL receptor explained a genetic cause of heart attacks and led to new ways of thinking about cholesterol metabolism.
Today, about 500 people (mostly children) are living with Niemann- Pick Type C disease. What scientists learn about these children might someday help millions of people with cholesterol-related diseases.
Also, the American Heart Association helped fund grants for research on Niemann Pick Type C disease. Donate today to help fund more research grants, or get involved with one of our many causes, like Go Red For Women, Start! Heart Walk or Power To End Stroke.
It is important to note that in 2009, the FDA approved the use of hydroxypropyl beta cyclodextrin (HPBCD) in a one time clinical trial to treat Addi and Cassi. Their treatment is currently being monitored by the FDA. If you have cholesterol-related issues, please talk to your healthcare provider about what treatment is best for you or your loved ones.