Niemann-Pick Children's Fund, Inc » Michael G. Stults

37th Annual Hospital Hill Run

Michael G Stults — Sun, 13 Jun 2010 14:41:41 +0000

On June 5, 2010 Children’s Mercy Hospital had their 37th annual Hospital Hill Run that bears a lot of legacy in it’s longevity and fundraising for CMH!

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.

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Why refer to it as the “Childhood Alzheimer’s”?

Michael G Stults — Sun, 16 May 2010 21:24:46 +0000

You possibly can recall someone you knew that suffered from Alzheimer’s disease. Currently 5.3 million Americans are living with this progressive and fatal brain disease with no cure (www.Alz.org). Alzheimer’s is progressively devastating in how it destroys brain cells, causes loss of memory (progressive dementia), and problems with intellectual functions that affect many of the things you and I take for granted. Alzheimer’s is the seventh leading cause of death in the United States (www.Alz.org).

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 tha t 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.

Photo used under Creative Commons from Sharron Goodyear.

Canada Receives First Approved Treatment For Niemann-Pick Type C

Michael G Stults — Sun, 11 Apr 2010 03:55:43 +0000

Canada has a lot to celebrate for their current and future patients living with the “Childhood Alzheimer’s” or Niemann-Pick Type C (NPC). During the last full week of March 2010, the announcement came down that Health Canada [The Food Directorate, the Therapeutic Products Directorate and the Natural Health Products Directorate in the Health Products and Food Branch (HPFB)] approved the official use of Zavesca (Miglustat). Before now the only approved use was for Gaucher’s Disease Type 1.

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

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Dementia in Our Kids – The Uninvited Thief

Michael G Stults — Sat, 27 Mar 2010 04:20:31 +0000

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.