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On Friday, I kicked off my first personal 100 Challenge event by doing a charity busk in aid of the Niemann-Pick Type C – Children’s fund.
You can see how it went later but for those of you who have never heard of Niemann-Pick Type C, here’s a bit about it.
The children’s fund was set up in December 2008 by Michael and Jennifer Stults, the parents of two young children, Brisan and Parker who were diagnosed with the rare condition a only few months earlier.
Check out their blog at www.bripardun.com
The organisation aims to spread awareness, raise funds and promote research into the genetic degenerative disease Niemann-Pick Type C, more commonly known as children’s alzheimer’s.
This rare terminal disease has no known cure and life expectancy for those diagnosed with the condition is believed to be less than 20. Usually the disease begins to affect children around the ages of about 4-7 and causes progressive deterioration of the nervous system.
Initially, Niemann-Pick Type C inhibits the body’s ability to metabolise cholesterol, which over a period of time causes an excess build up of this metabolite in the body, accumulating in the spleen, liver and brain of the child.
As the disease progresses, the build up of cholesterol around the body and other fat and sugar molecules in the brain cause a mass of physical and neurological problems including liver failure, loss of speech and voluntary movement, seizures, muscle degeneration and dementia which eventually leads to loss of life at an early age.
Unfortunately, there is no known cure for this disease and because of it’s rarity, there is still a huge void of information throughout the medical world regarding the disorder, making it extremely difficult for doctors and pediatricians to treat the disease or even understand what causes it.
Sufferers of N.P Type C don’t have the luxury of countless years of medical research and history behind their condition, and as yet there are no tried and tested treatments which lead to a positive outcome.
Because of this lack of understanding, children and families around the world who are forced to deal with Neimann-Pick Type C find themselves in the front line, fighting a constant battle to help fund and promote new research into the disease and help in the development of medicines and treatments to combat it’s progression.
There are some therapies available that can help with the numerous problems caused by the onset of Neimann-Pick, and by using drugs to control seizures, speech and occupational therapy to help with day to day living etc. and applying certain medications such as the drug Zavesca (Miglustat) to slow down the onset of N.P.C, it is possible to buy a little more time for those affected.
Unfortunately, these medicines are extremely expensive and run into hundreds of thousands of $ a year. The problem many sufferers of N.P Type C have is that although the drug Zavesca is approved by the F.D.A for the treatment of certain other Lysosomal Storage Disorders such as Type 1 Gaucher disease, it is not currently officially approved for the treatment of Neimann-Pick Type C and therefore has to be used ‘off label’.
When a drug is used ‘off label’ it means it is prescribed for a purpose outside it’s original scope of approval. Because of this, many insurance companies refuse to fund the use of Zavesca for it’s patients in the treatment of Neimann-Pick, regardless of the fact that it is one of the only effective treatments on the market that has any effect on it’s progression. This means that until it is approved by the F.D.A for the specific purpose of treating N.P.C, many families that desperately need the drug will not have the chance to use it.
Progress is being made into the study of N.P.C but there is still and incredibly long way to go and until more research can be done and a breakthrough is made into it’s treatment, the children and families of those diagnosed with the disease face a lifetime of testing and an uncertain future.
As the parents of Brisan and Parker, Mike and Jennifer Stults have spent the last two years coping with the effects the disease has had on their boys and the rest of their family, but throughout the troubles they have also brought about the creation of the non profit organisation the Neimann-Pick Children’s Fund and achieved wonderful things by helping to raise awareness, providing funds for vital research and offering support to other families coping with the disease.
The struggles they face, along with many other families around the world coping with diseases like Neimann-Pick Type C, makes me realise just how lucky I am to be able to live a normal life and to not have to cope with serious illnesses like these on a daily basis.
The worst thing in the world must be to have to face the fear of one day knowing you may outlive your children. Finding a cure and trying to enjoy the little time left you have with your kids must be the only thing in life that really matters.
For those of us who don’t have to deal with these sort of life threatening issues, it can be easy to take our everyday lives for granted, but if we take just a bit of time out of our daily routines to learn about these things and think about the struggles ordinary families like the Stults face every day, we can really learn to appreciate the lives we have and be thankful for what we’ve got, instead of always wishing for something more.
For families like the Stults, just knowing people are sharing in their ordeal and gaining an understanding of rare diseases like N.P – goes a long way to helping them get through each day with a glimmer of hope for the future.
If you would like to gain more of an understanding of the condition, please take some time to view Brisan and Parker’s Blog and the Neimann-Pick Children’s Fund website by clicking the links below.
Also listed are links to other Neimann-Pick foundations and charities around the world.
If you would like to offer your support or make a donation you can either visit the links below and donate to your particular countries fund, or :
Donate to the boys directly by visiting
Donate to the children’s fund by visiting
- Canadian Chapter of NNPDF (Canada)
- Vaincre Les Maladies Lysosomales (France)
- Niemann-Pick Selbsthilfegruppe (Germany)
- Fundacion Niemann-Pick de Espana (Spain)
- Niemann-Pick Disease Group (UK)
- Associazione italiana Niemann-Pick (Italy)
- Dana’s Angels Research Trust (DART) (United States)
- Ara Parseghian Medical Research Foundation (United States)
- NP-C Association Argentina (Argentina)
- Austrailian NPC Disease Foundation (Australia)
Even better, if you would like to promote awareness or raise funds for any of the charities above or for any particular cause that you feel strongly about, take a look at my post on the 100 challenge, join up and go out and have some fun doing something worthwhile.
Below are more links to other families dealing with Niemann Pick type C
- Addi & Cassi Hempel
- Breann Chavez
- Cathryn and Corynne Bouchard
- Dillion Papier
- Emily Hrbacek
- Fight For Jessica
- Gabrielle LaVerde
- Georgina’s Gang
- Hadley Hope
- Help Kevin
- Hope For Aaditya
- Hope For Hollie (UK)
- Jacobs Reach
- Life For Luke
- Mindy Fagan
- Race For Adam
- Tylor White-Richardson
- Touchdown For Ty
- Joshua Cullip’s Homepage
- Addi and Cassi’s Homepage
- Hope For Aaditya
- Calum Burdon’s Homepage
- Georgina’s Gang
- Book of Ben
Take some time to visit these children’s websites and read their stories. If you can pledge your support or offer a small donation to any of them, it will be more than gratefully received.
Last Friday I ventured out to try and raise a few pounds to donate to the cause…check out my next post to see how I got on.