This post is on the rarer forms of dementia, which make up the minority of dementia diagnoses. These also include reversible and treatable dementias, such as those resulting from infectious diseases or nutrition deficiencies. As Alzheimer’s disease is the most commonly diagnosed form of dementia, it receives the majority of focus in awareness raising, research, and funding for treatment and prevention. This can leave those with the rarer forms of dementia without much information on their dementia type or options for treatment, fewer disease-specific support options, and feeling frustrated and isolated. My hope is that this post will be informative and raise your awareness on other types of dementia that individuals and families face. Continue reading
This information comes from Alzheimer’s Society, a wonderful organization based out of the UK. They are one of my go-to sources for information and I highly recommend taking a look around their website. They offer the information on their website to be freely used by others, so I am posting the information in full. You can access the same article on their website as well as resources on dementia by clicking on the title, below.
But first, a little bit from the University of Notre Dame:
The National Institutes of Health refers to Niemann-Pick disease type C as “childhood Alzheimer’s” because of similarities in the brains of NPC and Alzheimer’s disease patients. Symptoms can include deterioration of memory and balance, lung and liver failure, delayed motor development, and seizures. The disease usually appears in early childhood, leading to neurological problems that are typically fatal.
From the Addi & Cassi Fund webpage (the twins with NPC pictured, above):
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.”
When I was writing my thesis on technologies for dementia, the youngest case of dementia that I found recorded was in a 6 year old girl who had Niemann-Pick disease type C – you can read about it in this article from Alzheimer Society, starting on page 16. You can also read one of my other posts about a 12-year old girl with this disorder here (og på dansk her). Continue reading