Michael & Jennifer Stults 1-3-10

I’m very honored that me and my wife have been selected as one of the 30 people under the age of 30 who have contributed to our community in some manor. Although we feel we have a ton of work to accomplish, the Niemann-Pick Children’s Fund, Inc is dear to our heart. Our two oldest son’s Brisan and Parker Stults were diagnosed with a rare FATAL neurological disease called Niemann-Pick Type C Disease. Sometimes referred to as the “Childhood Alzheimer’s” because of the similar pathological features they share. They only have a childhood to live a lifetime.

Brisan and Parker heading to Disney World June 2009

Roughly 75 patients in the US currently and only 500 cases diagnosed worldwide EVER. This is a genetic disease on Chromosome 18. You get a Gene from your mommy and daddy. We each passed  a bad copy of our Gene which activates this horrible disease. The statistical odds of this situation coming to fruition is beyond comprehension.  In NPC it is the cells inability to metabolize cholesterol. Essentially the recycling factor breaks down and this good cholesterol your body needs to form cells ends up becoming the culprit. It stores all these fatty lipids in the Brian, Liver, Spleen, and Bone Marrow causing a domino affect of neurological problems that eventually leads to their premature death.

Currently there is no cure or effective treatment to date. With the help of showing the correlation with other common diseases like Arteriosclerosis, Stroke, Adult Onset Alzheimer’s, and even HIV/ Aids we can attract more researchers from these more profitable diseases into our tiny world. As many of you know most pharmaceutical companies wouldn’t want to invest in a small population that isn’t going to return their investment from the labs. It’s just a stark reality and capitalism.

VOTE ONLINE HERE  [ a $10 donation is required but…it ALL goes to Charity!

VOTE ONLINE HERE  [ a $10 donation is required but…it ALL goes to Charity!

We’re asking that you come out and support us. Tickets will be sold online at 30 Under Thirty or by visiting their website: http://www.connectinkc.com/Our%20Events and click on “Register” on this event. On September 10th, 2010 they we will recognize the candidates and their contributions to Kansas City. The event will be held at LUNA7pm-11pm. (www.lunakc.com) 1520 Grand Blvd Kansas City, Mo 64108. On this evening come out and vote for your favorite candidate (Hoping that is us!), enjoy catered appetizers, great drink specials (Including an hour of sponsored drinks), and dance the night away. Raffles & Prizes included. The candidate with the most votes that evening will have the proceeds of the event donated to their favorite charity of choice!! from

Thank you for your support!

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.

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.

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

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.

On March 9, 2010 the FDA has requested additional preclinical and clinical information regarding Zavesca (Miglustat) before giving the ultimate approval that the Niemann-Pick Type C community was hoping for. Actelion stated that they will work diligently with the FDA to explore the best ways to address the points raised by the agency.

Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: “We remain committed to bringing an approved treatment to patients suffering from NP-C disease and in this spirit we will continue the dialogue with the FDA.”

Currently Zavesca (Miglustat) is FDA approved for type 1 Gaucher disease when enzyme replacement therapy is not an option. The milestone that this really entails for the NPC community is the ability for patients who’s insurance companies will not approve for off label use because it is not FDA approved for NPC. That means right now there are probably half of the patients in the United States that are simply unable to give it a go for their loved one(s).

When dealing with the FDA you have three options generally that will take place after submitting information for FDA approval:

1. An Approval Letter
2. A Non-Approval Letter (Sorry don’t pass go)
3. A Complete Response Letter (Not yet, we want more info)

Actelion received number three, a Complete Response Letter which allows the pharmaceutical company to continue to explore and collect data which might more clearly show the positive impact that the drug has on the treatment of the disease (Niemann-Pick Type C).

Currently the European Union, South Korea, Brazil, Russia, Australia and Canada, Zavesca® is indicated for the treatment of progressive neurological manifestations in adult and pediatric patients with Niemann-Pick type C disease.

If you are a parent of a child/adult with Niemann-Pick Type C, we encourage you to write Actelion or the National Niemann Pick Disease Foundation regarding the findings and/or benefits you feel your loved one has experienced from this.   The power of people and especially a parent because you are the only one that will ever fight the hardest for your child.

Read the full press release here: http://www1.actelion.com/en/our-company/news-and-events/index.page?newsId=1392243

Authors: James E Wraith, Jackie Imrie
Published Date November 2009

James E Wraith, Jackie Imrie

Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK

Abstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain.

Read the full abstract here.

*This post does not reflect the views and opinions of Niemann-Pick Children’s Fund, Inc. This article is for informational purposes only. The sole credit of this article belongs to the author/website listed above.