Niemann Pick disease is a rare condition that results from an enzyme deficiency in the body. The condition is an inherited one and for someone to be affected with it, both parents have to be carriers of the faulty gene. There are three different forms of the disease where Type A and Type B are caused by insufficient enzyme production but the third type is not. Niemann Pick Type C does not result from an enzyme deficiency but the effect that it has on its sufferers is the same as the other two types.
Niemann Pick Type C patients suffer from an accumulation of materials such as fatty acids and cholesterol in their body’s cells particularly in the central nervous system. This build up is toxic in nature and can cause functional and well as structural damage in the affected tissues and cells. Any area or organs such as the brain that are affected can lead the individual to experience intellectual decline, a decrease in the use of motor skills, frequent seizures and dementia. These symptoms may also be accompanied by loss of limb control, slurred speech, problems swallowing as well as decline in vision. Patients will also experience increasing problems with coordination and eye movements.
The condition is a progressive genetic disorder that impacts 1 in 150,000 births. Of these eighty percent are diagnosed as children while the remaining 20 percent get diagnosed during adulthood.
The progression of the disease is subject to the individual’s age. Young children who are diagnosed earlier in their childhood with Niemann Pick Type C disease can exhibit more symptoms and have a more aggressive form of the disease with regular episodes of seizures. Children will also exhibit serious learning challenges as the disease progresses.
On the other hand, individuals who do not demonstrate early symptoms of the condition may be able to stay symptom free for a long time. Those who do demonstrate late onset symptoms can include adults exhibiting and developing some form of a mental illness.
At the moment there is no treatment available in Australia for Niemann Pick Type C patients. However, there is a trail drug available for those who may wish to use it. Known as hydroxyl propyl beta cyclodextrin, the drug aims at slowing down the progression of the sufferer’s symptoms. The drug is not available under subsidy by the federal government’s funding scheme for orphan drugs. This means that patients who hope to avail the drug’s potential benefits will have to pay up to an annual cost of $78,000 to acquire it.
In its trail phase, hydroxyl propyl beta cyclodextrin has shown that tests done on animals indicate that the treatment with the drug may help extend the life span of Niemann Pick Type C patients by an additional five to ten years. Patients like Timothy Lloyd, diagnosed at age 17 and Matthew Lloyd diagnosed at age 19 are desperate to try out the trial drug to ease their symptoms. The drug cannot cure the debilitating condition but can only try to prevent onset of the condition and its subsequent progression.
References:
1) Anger as lifesaving drugs struck in federal bureaucratic limbo: http://www.heraldsun.com.au/news/victoria/anger-as-lifesaving-drugs-stuck-in-federal-bureaucratic-limbo/story-fni0fit3-1226842410049
2) Rare Voices- Anger as life-saving drugs stuck in federal bureaucratic limbo: https://www.rarevoices.org.au/news/18/anger-as-life-saving-drugs-stuck-in-federal-bureaucratic-limbo
3) Neimann Pick disease – What is it?: http://npcd.org.au/about-npcd/neimann-pick-disease-what-is-it/
4) More about Neimann Pick Type C disease: http://npcd.org.au/about-npcd/more-about-neimann-pick-type-c-disease/
5) How does one become affected by Neimann Pick disease?: http://npcd.org.au/about-npcd/how-does-one-become-affected-by-neimann-pick-disease/