The NNPDF does a wonderful job of keeping families and people interested up to date on how things are progressing in the disease community for Niemann-Pick Type C. You can visit updates on their page here: http://www.nnpdf.org/aboutus_14.html

Cyclodextrin

A few families have taken a different approach in individually seeking the approval of the FDA to start an individual trial. Some of their hard work contributed in helping promote the upcoming Cyclodextrin trial.  Cyclodextrin could be one of many therapies needed in the future to help NPC patients manage the disease progression.

Letter From TRND

Dear families and friends of the NPC community,

The collaborative group planning a cyclodextrin clinical trial at the National Institutes of Health (NIH) for the treatment of Niemann-Pick type C (NPC) disease met with the Food and Drug Administration (FDA) on Tuesday, December 13, 2011 as a follow up to the recently held November pre-IND meeting.  On November 1, we met with the FDA Review Division staff to discuss the proposed development plan for cyclodextrin and needs for the IND application package.

Representatives from the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, participated in this meeting.

While the November meeting focused on the drug safety and toxicology data, the purpose of the December meeting was to discuss the proposed clinical trial design.  Overall, the feedback from FDA was very positive and their comments and guidance will assist us in the generation of an IND application that is agreeable to FDA, thus allowing us to move forward with the initial clinical trial as soon as possible.

Preclinical toxicology and safety studies in animals are ongoing, and additional studies will be initiated shortly.  These required nonclinical studies will guide the selection of drug doses for the initial trial and will provide essential safety information.   In the upcoming months, we will be evaluating these study results and will incorporate them into the  IND application and initial clinical protocol, which will then be submitted to FDA and the NIH Institutional Review Board (IRB).  Once we have agreement from FDA and approval from the NIH IRB, we can share the specific details of the initial clinical trial, such as patient inclusion/exclusion criteria.

We are very excited about the progress we have made thus far and are encouraged by our recent meetings with FDA.  We understand that the community is eager to start this initial trial as soon as possible and we do not have time to waste.  Following the meeting, we believe that FDA shares our sense of urgency and we are grateful that they are willing to work closely with us to get this important initial trial started.  As always, your support of NPC research is the final piece that will help us impact this disease.  Thank you for your enthusiasm, your patience, and especially for trusting that we are making every effort to help individuals and families affected by NPC.

The TRND Team

Press Release:

NIH Therapeutics for Rare and Neglected Diseases Program announces next round of drug development projects

Related posts:

1. Potential Breahthrough in Niemann-Pick Type C Research
2. Orphan Drug Designation for Cyclodextrin | NPC

View Photo Gallery

NBC Action News and Christina Medina were so very kind to come out to share a bit of our story with Kansas City. You can find the link below:

Grain Valley family fights to find a cure for rare disease

Matthew Lesko was a big hit and everyone loved his smiling personality! We appreciate you coming out Matthew!

Thank you to each and everyone of you for supporting us and our event whether that was donating an item, your time, or even just donating monetarily.

See you next time!

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2. Matthew Lesko in Town For Vegas Casino Night
3. UPDATE 2-US FDA panel backs new use for Actelion drug [Zavesca]

Passion To Help

For well over 30 years, Matthew has been on a quest to educate the public. At times we may think he is over the top but he has went up and beyond what most of us would do to fulfill not only our passion but to get people to notice him. I have to say that is admiring. We face the same challenge with a disease like Niemann-Pick Type C. It is rare and not a lot of people are aware. So we need to bring awareness to the matter to further educate about this rare disease that could open the doors to other well known diseases that plague our society. Our Vegas Casino Night is one of our attempts to draw the Kansas City community into a night of fun but equally important generating knowledge to the public.

Matthew will be presenting attendees with his American Benefit Plan (Value of $350) as a courtesy gift. He truly likes to give back.

What is Niemann-Pick Type C?

Niemann-Pick Type C is a genetic disorder that affects the cells ability to metabolize cholesterol. It is extremely rare and consequently always fatal. Although the age of death varies, it generally strikes in adolescents and childhood. To learn more visit here: About Niemann-Pick Type C

PR release by Evans Media Group: http://www.npcfund.org/LeskoInTown

More Lesko: http://www.Lesko.com or http://questionmarkguy.blogspot.com/
Brisan and Parker: http://www.BriParDun.com

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3. Midwest Classic Tickets fore Charity Event

The money raised from the Casino Night will help further the fight against a horrible fatal disease called Niemann-Pick Type C.  NPC is the cells inability to metabolize cholesterol that stores fatty lipids in the brain, liver, spleen, and bone marrow causing a domino effect of neurological problems that lead ultimately to their untimely death.  No cure. It’s a 100% FATAL.

With less than 50-75 cases currently in the United States, statistics state that there has only been 500 cases diagnosed worldwide EVER!

The importance of educating and creating awareness as much as possible is the insight it can bring to more common disorders like Stroke, Adult Onset Alzheimer’s, Atherosclerosis, and even HIV/Aids. Each of these disorders has a problem with cholesterol. We all know someone that has been affected by this haven’t you?

Tickets are for sell online at www.NPCFund.org/VegasNight. We have several options. General admission is $25. You get entry into the fundraiser, 1 drink ticket, 1 raffle ticket, and a 5,000 chip voucher to start having fun!  Tickets and sponsorships go up to $250 with different options.

You should expect at the event:

• Blackjack, Poker, Texas Holdem, Craps, Roulette, and a Money Wheel (Sponsored by FUN Midwest)
• Black tie affair (Over 21 yrs of age only)
• Hor d’ourves (Some nice stuff)
• DJ / Emcee (Bryan Truta – morning DJ on 105.1 JACK FM)
• Prizes, Raffles, and Silent Auction Items

Niemann-Pick Children’s Fund Inc. is a Missouri 501(c)3 non-profit EIN 80-0317862. Your donations are tax deductible under the IRS tax code. Please consult with a tax preparer to determine the eligibility.

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Gavin and His Mother’s Heartbreaking Story

Kristen and Fernando Lopez have 3 children from Little Elm, Texas. Gavin there oldest son has Niemann-Pick Type C disease. Recently they were on the TV show The Doctors talking about their guilt about having a child with Niemann-Pick Type C. This is very normal to have these feelings because we as parents love our children so much that we want to fix them even with a rare disease. The show was focusing around Overcoming Guilt.

Gavin was a healthy baby boy and by the age of 2 he started having issues with his speech, muscle’s going limp, and worrisome changes that had them concerned. For about a year they searched on what may be the reasoning behind it all. Kristin came across The Doctor’s TV show about Addi & Cassi Hempel who also has Niemann-Pick Type C disease. She felt that this was exactly the diagnosis she was seeking. After several tests and the whole process it was confirmed…Niemann-Pick Type C disease. For many this is a death sentence that no parent wants to here. Learn more by clicking here about Niemann-Pick Type C disease.

Here is the intro about the Lopez’s story:

How Niemann-Pick Disease Type C Affects the Body

E.R. physician Dr. Travis Stork explains how Niemann-Pick Type C affects the body.

Words of Hope for Niemann-Pick Type C Patients

Chris Hempel sharing words of hope for all patients and family currently coping with Niemann-Pick Type C.

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Niemann-Pick Disease Conference

On July 28th-30st the National Niemann-Pick Disease Foundation held their 19th annual Medical & Family Conference. It was a place where families who didn’t sign up to be in “the club” of Niemann-Pick Disease Types A, B, C gathered to connect with families and meet the some of the researchers involved in finding a potential cure. The conference was held in the great area of Norfolk, VA right on the bay!

Over the course of three days there was valuable time in breakout sessions to give out awards, talk about research, technology, and even support groups. The most beneficial things we took away from this conference was the fellowship with the other parents. It already is an emotional journey when your child or loved one has been diagnosed with Niemann-Pick Disease. Most of us didn’t pick to be friends with the other parents…but fate brought us all together. As a unit, as humans we have to stick together within this small community of diagnosed cases. We all need each other in different regards and we all play a critical role big or small.

Keep Smiling

There are times we feel a inadequacy in helping be advocates for Niemann-Pick Disease. A lesson I picked up from the Global Leadership Summit last week was don’t compare your life with someone that has been “successful” because you are comparing two different points in life. You don’t know what type of ditches they had to dig to get to the point they are at. Ultimately when you make that comparison you are going to feel less adequate. Easier said than done right?

Advice

James “Jim” Ward was someone we met on the ride from the airport to our hotel. He lost a couple of his youngsters to Niemann-Pick Type C. He led the “Dad’s Breakout Session” and has some good advice to offer. I would like to share that with you because not every “dad”or “mom” of an affected Niemann-Pick disease patient was able to attend.

Lessons Learned by an NPC Dad

07/23/05

Revised 07/22/11

 

• Doctors & Hospitals do not charge interest. Although all medical bills must be paid, all facilities I have dealt with in the last 10 ½ years will allow payments to be made on a monthly basis. For example, when faced with a debt of $500, I will call the provider and initially offer $25/month. Often the facility or physician will accept this arrangement. If not, they may counter with $50/month. Through this negotiation process, medical bills can be paid at a mutually agreed upon rate.

• If a patient is to be placed in a wheelchair, unforeseen damage can be done to the patient that the caregivers may not realize. During the last three weeks of my son’s life, it was determined that his bones had become very brittle due to his confinement to a wheel chair. This loss of bone mass interrupted the aggressive treatment of the pneumonia that eventually took his life. In hindsight, the following should have been done when the child is first put in a wheelchair:

• Find an orthopedist for the patient with whom you are comfortable

• Request a bone scan be done to determine the initial density of the patient’s bones

• At periodic intervals, other scans should be done to track the fight against deterioration.

• If any of the scans indicate any osteoporosis, pursue aggressive treatment to reverse this trend, such as calcium supplements (TUMS)

• Feeding tubes should NOT be avoided. Feeding tubes are flush on the surface of the patient’s tummy and not obvious. Patients with feeding tubes may continue to eat normally, provided food is not aspirated into the lungs. One of the major advantages of a feeding tube is that exact quantities of medication may be administered successfully on a routine basis. No longer must patients be tricked or forced to take medication on pudding or applesauce or in juice. The question of “How much of the medication did he get” will no longer be an issue. Once Niemann-Pick Disease progresses to the point where swallowing is severely limited, the feeding tube is a necessary device to keep the patient thriving.

• Treat your insurance provider as a part of the care-giving team, not as an adversary. Although many plan provisions may frustrate you, the people on the other end of the phone probably did not specify the limitations of your plan. If at all possible, arrange a meeting between yourself, your insurance co-ordinators, and your Nieman-Pick child or children. The purpose of this meeting is for the insurance co-ordinator(s) to match your children’s faces with their names, so that when their names appear on claim forms on the co-ordinator’s desk, he or she will remember and take care to provide you with the best support available. If the co-ordiantor is out of town, a videotape introducing your children may be in order. I stressed during these meeting that I am not looking for any special treatment, but if we need services or equipment, our needs are real. I have been through 4 different insurance companies (due to layoffs & plan changes) and have appealed to the insurance staff as CARING PEOPLE and have always been rewarded by high quality service.

• Do not hide patients with disabilities away. Since their ability to initiate interaction with life may be limited, the caregivers often need to provide outings into the community. Although you may move faster by yourself in a crowded or stressful situation, this provides a setting for the caregiver and the care receiver to bond in overcoming a shared struggle. When my son was alive, I would tube feed him at sporting events, slowly move through crowds at the home improvement store, and push his wheelchair ahead of me in local 5K races. My wife had cards printed with the National Niemann-Pick Disease Foundation’s website (NNPDF.ORG) so that the curiosity of inquisitive bystanders could be satisfied in an efficient manner.

• Spousal maintenance may be in order. While I was at work M-F, my wife handled the NPC (and non-NPC) kids. Because of the extreme stress of this daily task, I insisted on taking over for the night & weekend shift. To allow my wife to recharge, she occasionally “ran away” for a weekend at a local hotel while I held down the fort at home. This seemed to help her withstand the stress of our vocation.

• Sibling maintenance may also be needed. My wife and I did “tag-team” parenting with our children. One of us would occasionally break away with our non-NPC daughter to give her some “normal kid” time. She appreciated these episodes, but also learned to adjust to the needs of our special family.

• Since NPC eventually leads to seizures, they will be encountered eventually. Watching your child have a seizure is one of the most helpless feelings a parent can experience. After playing this game twice, I’d recommend asking your neurologist for a non-drowsy medication if possible. I’d also advise that the dosages be spaces out as much as possible. We found that seizure meds act as a blanket on the patient’s emotions and awareness of the outside world. We had my NPC daughter on a drowsy seizure med for 3-4 weeks before we asked the neurologist for a non-drowsy replacement. We never regained the level of functioning we lost in those 4 weeks.

A Date at Home

Last Update 9/15/10 10:00

Since the care of our 3 children (2 with NPD) was our utmost concern, we did not want to leave them with anyone except when necessary. In an effort to create a special event between my wife and me on certain weekend nights, we came up with “A Date In”. As opposed to “a date out with someone”, we had a date in with each other after the children were all in bed and all of the medical procedures were complete for the day.

We treated it just as of we had a “date” from before we were married. Here is he sequence we followed (more or less):

1. We would both dress in our best outfits in separate parts of the house

2. I would pick up food from a local restaurant and bring it home (home cooking is OK too)

3. I’d set the lighting & music and table to simulate a fine restaurant in our home.

4. We’d have a leisurely meal with time to reconnect and share a special event (while we used our audio (baby) monitors to keep track of the children). If one of us had to attend to any of the kids, we took care of the situation and returned to our special time as quickly as possible.

5. As much kitchen clean up as possible was delayed until tomorrow (like on a date).

This may sound “artificial” or “silly”, but I found it did the following for us:

1. Gave us a special event to look forward to and plan for

2. Showed that the each spouse wanted to make the other feel special for a brief time amidst the constant activities of our medical house

3. Gave my wife an excuse to “do” her hair and make up and exchange her jeans & T-shirt for a nice dress or suit. Women seem to really get a lift from getting all dressed up and the husbands get to enjoy the visual presentation as well.

4. Allowed us to nourish our marriage without neglecting or endangering our kids

5. It was a “time out” from the hustle and bustle of modern life and a reconnection to the roots of our relationship.

For additional information you can visit: www.NNPDF.org. Also there will be a new site geared towards families of Niemann-Pick disease that is in the works at www.Niemann-PickDisease.com. This site is not intended to replace any current support outlets but to enhance and centralize a place for families and potentially doctors to communicate in a more organized manner. We will keep you updated.

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Below you can view our letter informing the public on the event or also print the order form if not ordering via www.NPCFund.org/MidwestClassic-Tickets
Midwest Classic Ticket Sales Aug 15-21 2011

Order Form | Midwest Classic Golf Tournament

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Niemann-Pick Type C is essentially a generic flaw keeping lipids trapped in the cell and prevents cells from using the lipids appropriately. The destruction of brian cells, which is the most crucial area, typically kills the affected individuals by their teenage years. NPC strikes approximately one in every 150,000 births. NPC is a genetic inherited neurological disorder that involves the lack of cholesterol metabolism within the cells.

A recent claim published by Olaf Wiest and Paul Helquist of the Univeristy of Norte Damn and Frederick Maxfield of Cornell University says that a histone deacetylase inhibitor (HDAC) corrects the damage done by NPC and allows the previous diseased cells to function normally.

This obviously would appear like wonderful news except we have to remember not to jump to premature conclusions drawn from this press release. This whole disease and finding a suitable treatment is so complicated. There have been many times in the past that something in the lab has shown to cure NPC but only to later show that it wasn’t feasible in actual humans or animal studies.

One of the leading Niemann-Pick Type C experts Marc C. Patterson, M.D., Chair of the Division of Child and Adolescent Neurology at Mayo Clinic, also a member of the NNPDF’s SAB, urged caution on premature assumptions:

The work was done in cultured fibroblasts, so one should be very cautious about extrapolating these data to animals or humans.  Moreover, the work was done in cells expressing one or two I1061T NPC1 mutations, and may not be relevant to other mutations; it was not effective in an NPC2 mutant cell line.  Of note, the late Dick Pagano showed dramatic reversal of trafficking abnormalities and filipin staining in NPC fibroblasts in which rab 7 and 9 were overexpressed, but much more modest results in transgenic mice with NPC1 mutations and rab overexpression.

Mouse studies could certainly be justified, but it would be premature to assume that this approach will be applicable in humans with NPC.

If there was ever a time to have a child or loved one with Niemann-Pick Type C, it would be in our current timeline. Research is making head way but that head way has to be weighed by the fact that in research time it might be moving fast but to parents that timeline will never be fast enough to help their dying children now.

To view more detailed information about this press release and feedback: http://www.nnpdf.org/npdisease_14.html#ValproicAcid

Photo used under Creative Commons from jepoirrier.

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Michael and Jennifer Stults who’s two eldest son’s Brisan and Parker were diagnosed with this rare neurodegenerative disease in August/September 2008 after years of aggravating doctor’s visits trying to understand what is wrong with their children, organized the Niemann-Pick Children’s Fund, Inc. The concept was simple, how do they do their part and help fight this monster of a disease? How do they give back? With like minded individuals and close friends they formed NPCF to bring hope and opportunity to families that uniquely understand these pressures that burden their lives every day.

To read more: http://www.npcfund.org/about-us.html

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1. Join Our Cause On Facebook!

Definition of Rare Disease: “A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.” (wikipedia)

After all why would we refer to “rare disease” as rare when in fact we all are affected by disease? At some point in our life we have heard of someone or even have known a person who has suffered with a rare disease. To put into perspective what a rare disease means here are some statistics from WrongDiagnosis.com:

Prevalance of Rare diseases: about 25 million Americans (ORD); each disease less than 200,000 Americans by definition.

Prevalance Rate: approx 1 in 10 or 9.19% or 25 million people in USA [about data]

Incidence (annual) of Rare diseases: Less than 200,000 people in the USA by the definition of “rare disease” (in many cases much less)

Incidence Rate: approx 1 in 1,359 or 0.07% or 200,000 people in USA [about data]

Incidence extrapolations for USA for Rare diseases: 200,000 per year, 16,666 per month, 3,846 per week, 547 per day, 22 per hour, 0 per minute, 0 per second. Note: this extrapolation calculation uses the incidence statistic: Less than 200,000 people in the USA by the definition of “rare disease” (in many cases much less)

Read more at http://www.wrongdiagnosis.com/r/rare_diseases/stats.htm?ktrack=kcplink

This years focus for 2011 (http://www.rarediseaseday.org) is “Rare but Equal”. Here is more:

This year, EURORDIS member national alliances in 22 countries are combining their efforts to put the spotlight on “Rare Diseases and Health Inequalities.”

More specifically, in 2011, Rare Disease Day will seek to draw attention to the:

• Gaps in health that exist for rare disease patients between and within countries in the EU
• Gaps in health that exist for rare disease patients compared to other segments of society

The campaign will serve to advocate for:

• Equal access for rare disease patients to health care and social services
• Equal access to basic social rights: health, education, employment, housing
• Equal access to orphan drugs and treatments

To learn more about how to get involved please visit Rare Disease Day 2011 website.  Below is a featured video on Rare Disease Day’s YouTube channel featuring video of families suffering from Battens Disease.

[ To view: http://www.youtube.com/watch?v=AZa8kw3AHz4]

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