Frequently Asked Questions - Homepage
Questions for the Family
Q: At What Age Were Your Children Diagnosed?A: Our official diagnosis came on November 7th 2007, the devastating news delivered to us by a visiting specialist from OHSU, after a brief examination of Peyton and Kayla. Peyton was 10 years old, Kayla was 7. This diagnosis was finally arrived at after over 7 years of on and off testing. The doctors first noticed an enlarged spleen in Kayla as an infant, and then found the same in Peyton. Many tests were run, and a few years later a thorough examination at OHSU with several doctors still could not find a reason for the enlarged spleen. It was not until Peyton was 8 years old that the first neurological symptoms began to occur. It was another year and half, and several doctors, before the official diagnosis was made.
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Q: Are all children in the same family affected by Niemann-Pick disease?A: For every child two "carriers" have, there is a one in four chance that the child will be affected. The NPC1 gene is located on chromosome 18, and each parent contributes one of their genes to their child. The carriers have 1 "good" gene, and 1 "mutated" gene. So, if each passes on their "good" gene, the child is non-affected. If one of the parents pass on a "good" gene, and one passes on a "bad" gene, then the child would become a carrier of the disease, like the parents, but would remain unaffected by the disease. If both parents pass on the "bad" gene, then the child would be affected by Niemann-Pick Type C. In our case, our 2 older children are both affected, and our youngest is non-affected.
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Q: How rare is Niemann Pick Type C disease?A: The official statistic is that Niemann-Pick Type C strikes an estimated 1 in 150,000 people. Currently, there are approximately 500 known cases worldwide, and just over 100 in the United States. However, the number is thought to be at least 1500 or more worldwide, because the disease is so hard to diagnose, and so often gets MIS-diagnosed.
With over 6.5 Billion people in the world now, that 1:150,000 estimate seems to be more like 1 in 2 or 3 Million that have the disease. Either way, it is extremely rare to say the least.
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Q: Is There Any Cure?A: Currently, there is no cure for Niemann-Pick Type C. There is only one therapy available, with an off-label drug called Zavesca. This drug does not stop the disease, but has been shown to help slow the progression of the disease by a little bit. There are many other compounds that are currently being tested to see if they show help in slowing the progression of the disease as well. There are also a couple of different therapies being explored that may actually help a lot more. The most promising of these is called "chaperone therapy", which is being used in other diseases, and researchers are trying to see if it will work in NPC also. This works by finding a "chaperone" chemical, to help take the cholesterol out of the cells.
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Q: What is the Science of NPC Disease?A: NPC is caused by too much cholesterol accumulating in the cells, which causes them to die off prematurely, especially neurons. NPC1 is a protein inside the cell. It's job is to grab on to the cholesterol inside the cell, and move it outside. But, in Niemann-Pick Disease, this protein is "mis-folded", so it can't do it's job.
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Q: What is Zavesca, and Does Insurance Cover the Cost of the Drug?A: The most promising drug available to slow the progression of the disease and improve eye movement, swallowing, and other symptoms is Miglustat, commonly known as Zavesca. The 12 month trial documents that this drug helps to improve symptoms, but is not a cure. Zavesca may allow us to "buy time", so our children may participate in future trials, and potential therapies.
(For the 12 month trial results, click here: 12 Month Trial Results on Miglustat)
Unfortunately, Zavesca is a new drug, and not yet approved by the FDA for use in the USA. In January, 2009, it was approved in Europe. The cost for one 100 mg pill is $100. Peyton and Kayla are on three 100 mg pills each day, which is over $9,000 per month for one child. Thankfully, our insurance has approved coverage of this drug for one year, and will review it on a year by year basis.
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