In Rockville, MD on June 3-4th many of the researchers looking into different areas and avenues for Niemann-Pick Type C came together to discuss promising therapies. Although research is making progress, parents of NPC patients never feel that research is happening fast enough. That is greatly to be expected. The NPC community is  making large strides in the right direction!

The National Niemann Pick Disease Foundation was very kind in putting together a recap of that meeting in a pdf format which is viewable here: Promising Therapies for Niemann-Pick Type C Disease.

This year I decided that I wanted to participate in the run for Brisan and Parker but for future events of Rare Diseases. I had never done anything like this before and remember thinking when I woke up at 5:30am on that Saturday morning, that I have officially lost my mind! Originally with another friend we were going to run the 10k which is around 6.25 miles. Knowing that I haven’t ran that distance all at once since high school I decided to go with the 5k (3.25 miles).

My training wasn’t spectacular although I had regularly been working out at 24 hr Fitness. My last outside running in distances was in August/September of 2009. The tread mill came in handy but to all amazement I only ran 3 miles twice for my training.

On the day of the event I felt really good and finished strong for not knowing what to expect. My goal was not to finish in 1st place but to just finish. My body felt really good after the race.

Next year our goal is to have the Niemann-Pick Children’s Fund on their site as a non-profit that others can help raise money for. I noticed that they did not have any that were targeting rare diseases. This will be a great way to help spread the message in our community especially but help generate awareness & education.

Niemann-Pick Type C (NPC) is a rare fatal genetic neurological disease that affects the cell’s ability to metabolize cholesterol. The domino affects end up destroying the nervous system along with other vital bodily functions that ultimately claim the life of the patient.

In January of 1983, the Orphan Drug Act (ODA) was passed into law in the United States with consistent pursuit by the National Organization for Rare Disorders. The ideal behind this is to encourage pharmaceutical companies to look into smaller markets with development of drugs for orphan diseases. Niemann-Pick Type C (NPC) certainly falls into this category (around than 500 diagnosed ever worldwide). The benchmark on how to determine an orphan disease is one that affects less than 200,000 people.

As Nadine Hill, director of family services of the National Niemann Pick Disease Foundation (NNPDF) stated in an email to families this week, “What exactly does that mean for our NPD community? It is important to emphasize that an Orphan designation does not make any assessment at all on how the drug works in clinical trials, whether it is safe or effective in patients, nor whether it will ever be commercially available – the Orphan designation’s main purpose is to make the development of the drug more financially viable for the developer.”

Chemical structure of the three main types of cyclodextrins.

Cyclodextrins are a sugar compound which was first described in 1891 by A. Villiers. Currently the food industry uses cycodextrins in preparing cholesterol free products. The concept is to help reduce the intercellular cholesterol that becomes the main culprit in NPC. By reducing the size of the lysosomes and in theory reducing cholesterol, it can help prolong the life of a child or adult suffering from the death sentence of NPC. Although there currently is no formal clinical trial, these actions are a step in the right direction. There still is a lot of unknowns and work that will need to take place.

Behind the push to get to this point is Chris & Hugh Hempel who has twin daughters suffering from NPC. In conjunction with other NPC families they formed their own Virtual BioTech they named S.O.A.R. (Support of Accelerated Research). Through the work of much collaboration, this has shown to help move research quicker.

As of today there is no known cure or effective treatment for Niemann-Pick Type C. The future outcome looks bright even though time is not on our side. The Niemann-Pick Children’s Fund looks to provide support in the areas of research, education/awareness, and family support through existing channels.

Read the WSJ.com story here: FDA Grants Mom’s Wish; Gives Orphan Drug Designation

To learn more please visit NNPDF’s website: http://www.nnpdf.org/Cyclodextrin.html

In comparison to Niemann-Pick Type C Disease (NPC), it has maybe less than a 100 people currently living in the U nited States. Many sources state that 500 cases have been diagnosed ever worldwide. That’s not exactly as common of disease as Alzheimer’s.  NPC is described as a genetic degenerative neurological  disorder that mostly strikes during childhood that stores fatty lipids in the brain, liver, spleen, and bone marrow because of the cells inability to metabolize cholesterol. Although uncommon, adult onset can take place with NPC. Outcome is also fatal with no cure.

Whether it is Niemann-Pick Type C Disease (NPC) or Alzheimer’s, they are extremely saddening to experience as a loved one. One affects mostly older adults and the other strikes predominantly in adolescents. Regardless, a main symptom in each disease is progressive Dementia along with similar pathological features that include the loss of intellectual function.

The question seems to arise often regarding why would you refer to Niemann-Pick Type C Disease (NPC) as the “Childhood Alzheimer’s” when they are technically two separate diseases? Touche’, great point Dr. Watson. My wife Jennifer absolutely hates when the two are referred to one another. I on the other hand am absolutely fine with the comparison and title.

When you tell someone about NPC, they kind of give you that “deer in the headlights” look along with the “side head nod” like a puppy. For any of you in sales or marketing the first thing you are taught is to make an impact statement to gain attention or some type of understanding of what your speaking about. When you say the “Childhood Alzheimer’s” people can instantly relate to someone or to a situation where they’ve heard about Alzheimer’s or Dementia.

Overall if you explain in a way that they are two separate diseases that share some similarities, you should be able to paint a mental picture for your audience. In no way do I feel by using this reference that it confuses nor threatens anyone. Just explaining what NPC is, is confusing enough. How can you make it any more confusing for people? Seriously.

You as a parent are the biggest advocate for your children. We need to let people know about this horrible disease. I believe it holds keys to other diseases affected by the storage of cholesterol in cells. Please visit our website www.NPCFund.org or my family’s personal page www.BriParDun.com.

http://www.npcfund.org/what-is-npc/videos.html

Serge Melancon, M.D., Montreal Children Hospital, commented: “Health Canada’s approval of Zavesca(R) (Miglustat) for the treatment of Niemann-Pick Type C disease is a wise choice and is very good news for patients and their families. Until now, no drug was effective against the neurologic manifestations associated with this debilitating familial disease. Canadian physicians will be without a doubt happy to have this therapy, which is already recognized in Europe and elsewhere around the world, to relieve their patients’ symptoms. As a clinical geneticist who has been dedicated to treating rare hereditary diseases for several years now, it is my fervent hope that the provinces will follow Health Canada’s lead and facilitate access to Zavesca(R) for patients who have already been diagnosed with this disease.”

Zavesca has shown some hope of relieving to a certain degree symptoms of Niemann-Pick Type C (NPC) and it’s devastating effects on families loved ones.  As the United States still isn’t completely convinced that it is ready to receive the FDA’s seal of approval, 75% of US families affected by NPC are not able to participate in the drug’s potential benefits due to non-FDA approval.

Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: “I am very proud that Actelion – together with the scientific community – has been able to demonstrate the role of Zavesca(R) in reducing the progression of clinically relevant neurological symptoms in patients with NP-C. I would like to thank both the patients and their families who, over the years, have been involved in our clinical program with so much dedication, as well as all the clinical experts for their continuous support. Actelion will continue to support the rare disease community in its efforts to advance science and medicine for the patient.”

Overall this is great news and exciting in so many ways. All though this is a small step in the right direction, it is important to note that the ultimate cure or treatment for Niemann-Pick Type C (NPC) will possibly be a “cocktail” of remedies to treat its multiple symptoms.  Families must keep hope alive in their communities, government, and hearts that by persistent in many different facets that one day a rare disease like Niemann-Pick Type C (NPC) will open up doors to many other common diseases.

Persistence, it’s contagious.

Press Release Canadian Approval of Zavesca March 2010

Additional Information Regarding This Topic:

1. http://www.benzinga.com/pressreleases/m187674/zavesca-r-miglustat-first-treatment-available-in-canada-for-rare-progressive-n
2. http://www.marketwire.com/press-release/Zavesca-Miglustat-First-Treatment-Available-Canada-Rare-Progressive-Niemann-Pick-Type-Swiss-ATLN-1136457.htm
3. http://finance.alphatrade.com/story/2010-03-23/CCN/201003231315CCNMATHWCANADAPR_0594289001.html
4. http://www.nnpdf.org/npdisease_09.html

Help us spread the word about Niemann-Pick Type C! Join our cause on Facebook! Niemann-Pick Children’s Fund, Inc. was organized in December of 2008 in order to raise awareness of Niemann-Pick Disease Type C and its affect on families in America; to raise money to promote research to find treatments or a cure for Niemann-Pick Disease Type C: and to provide support to individuals and families affected by this disease through existing channels.

Dementia, who was the thief that thought up this bright idea? Sorry honey, what did you say again? OK that might be a case of selective hearing. We’ve all have had family or known people who have suffered with this horrible symptom. When you mention dementia, Alzheimer’s comes to mind or we all tend to think of an elderly person with their hands on their head not able to remember out of frustration pounding the table with their fists. STOP!… WAIT!… Did you know our children can suffer from dementia too?

I recently read a post from another family who has twin girls with Niemann-Pick Type C (Addi & Cassi Hempel) and it prompted me to finally put some of my thoughts down on “paper”. I agreed so much with what was wrote on that blog post that I couldn’t wait any longer. Niemann-Pick Type C is just one of many diseases that dementia plays a critical role in the quality of life that children/ young adults will have. I think about our caregivers, teachers at school, and even our children’s peers that are uneducated about dementia who could benefit from understanding the signs. They would be more equipped to cope and manage someone with dementia, especially our precious little ones who we love so much.

“Our lives are made in these small hours, these little wonders, these twists and turns of fate. Time falls away, but these small hours still remain.”

-Rob Thomas-musician

Dementia causes a loss of memory, confusion, issues with speech and language, changes in mood or behavior, loss of building new skills, losing their appetite and having the ability to complete simple tasks. Being a parent of Brisan and Parker Stults who has Niemann-Pick Type C, you learn to deal with a lot of patience. It’s not an easy task but with education you can better equip yourself to handle this additional burden. For instance with Parker we notice restlessness, unable to sleep at night, and very repetitive with phrases or just words. To most parents that can become pretty annoying!   The underlying issue is due to dementia but backed by their horrible disease Niemann-Pick Type C. It’s such a sad reminder that they only have a childhood to live a lifetime yet they’ll never remember it.

I read a website recently that said “dementia doesn’t happen to children”. That is false because of the stigma placed with this topic. Dementia is an uninvited thief who holds nothing back. Just remember children can have dementia to and this isn’t just an elderly issue. Find the education you need to bring awareness to your community about this issue.

Dementia in children, teenagers and young adults A guide for parents, teachers and care professionals

It has been almost 13 years in July 2010 that the NPC1 gene, on Chromosome 18 for Niemann-Pick Type C was shared with the world on its discovery. This was a huge step and monumental discovery with associating cholesterol with a certain gene/chromosome at that time. To arrive at this point, it took decades of work which shed an abundant light into how a cell metabolizes cholesterol. In short, Niemann-Pick Type C causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells.

From a press release dated July 10, 1997 from Bethesda, MD:

“This discovery is an excellent example of how research on rare brain disorders often pays off in other ways,” says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS). “By identifying this gene, we not only take a crucial step forward in understanding this devastating disorder, but also gain insights into problems that affect every one of us.”

In 2001, cardiovascular disease was responsible for more than 39 percent of all deaths in the United States (American Heart Association: Heart Disease and Stroke Statistics 2004). Atherosclerosis is a disease where plaque builds up in your arteries. We all know those aren’t important to our lively hood at all. OK, just joking but plaque is made up of fat, calcium, cholesterol, and other substances found in our blood that over time builds up but hardens in the passage ways of our arteries. Imagine if you’re driving through a two way tunnel but one side is now closed off?  It would be kind of hard to get through to the other side in a timely and relaxing manor with additional objects in your way? Just like that situation, this affects how we get our blood to important areas in our bodies. With millions of people dying each year, this is a huge number of people. What if Niemann-Pick Type C could provide some insight?

Other diseases such as Adult onset Alzheimer’s, Stroke, Cystic Fibrosis, Duchenne Muscular Dystrophy, and even HIV-Aids will benefit from the research into Niemann-Pick Type C. Did you know that children can experience dementia to? Crazy to imagine because most of us think that only our elderly family members get that! With the combination of deaths due to these diseases, could you imagine if we had a more collaborative research environment? Unfortunately big companies aren’t going to sacrifice revenue opportunities to help a blip on the radar screen but they will invest if they see it helping thousands of people; this means a return on their investment. This reality is sad but true.

Rare diseases OUR important to you, me, and everyone we know. Each of us has a Chromosome 18 that is vital to us being a living human being.  I encourage you to help out in some way. That could be donating to several charities that fund research for NPC like the National Niemann Pick Disease Foundation, Ara Parseghian Medical Research Foundation, Hide and Seek Foundation or the Niemann-Pick Children’s Fund. That could be becoming and advocate in lobbying our government for better health care. It could be you just passing the word and spreading awareness.

We all are in this together and have been affected in some way by one of the diseases mentioned in this post. One person can make a difference in the world and that person could be you.

Additional Resources:

• http://www.lef.org/protocols/heart_circulatory/coronary_artery_disease_atherosclerosis_01.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.strokecenter.org/patients/stats.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.cdc.gov/nchs/FASTATS/deaths.htm

*All pictures belong to their respective parties.