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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2. Video Project for Niemann-Pick Disease 2011
3. NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

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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Karen Quandt is the Board Chair for the NNPDF.org.  A few years back she was completing a study about neurodegenerative disease in family members of patients with Niemann-Pick Type C (NPC). There differently is a relationship between NPC and other diseases. At this given time ,the current discoveries  that scientists  are making to further develop treatments  for NPC are providing critical insights into our understanding relating to a few of the most common diseases that have been shown to be debilitating to life.

Thank you Karen for allowing us to share.

———————————————————————————————————————————

NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C

Final Progress Report – Lay Summary

Thank you to all the families that participated in my recent research survey. Thanks also go to the National Niemann-Pick Disease Foundation, The Niemann-Pick Disease Group of the United Kingdom and to the Ara Parseghian Medical Research Foundation, all of whom assisted with this survey. Today I closed the survey titled, “Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C”.

Here is a summary of the results:

• 57 families answered the survey
• 29 families had a family member with another neurodegenerative disease- 50.9%
• 28 families did not have a family member with another neurodegenerative disease – 49.1%
• Summary of other neurodegenerative diseases that the families have in their health history:
• 17 cases of Alzheimer disease- in 14 different families
• 8 cases of Amyotrophic lateral sclerosis-(Lou Gehrig’s disease) – In 6 different families
• 8 cases of Parkinson disease
• 4 cases of Multiple Sclerosis – in 3 different families
• 2 cases of Huntington Disease- in the same family
• 1 case of Multiple System Atrophy
• Several families had 2 different neurodegenerative diseases in their family health history.

I discussed the findings of my recent Niemann-Pick type C (NP-C) family health history survey of neurodegenerative diseases with Dr. Ellen Sidransky and Joie Davis, nurse practitioner, both of whom work at the National Institutes of Health.

Dr. Sidransky and Joie are interested in investigating the possible association of Parkinson’s disease, ALS (Lou Gehrig Disease) and Alzheimer’s disease (diagnosed before the age of 65), present in the families who also have a relative with NP-C.

Thank you,

Karen Quandt, RN,MN

http://www.nnpdf.org/familyservices_15.html

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Niemann-Pick Type C disease (NPC) doesn’t send Christmas cards, celebrate birthdays, love you unconditionally nor does it bother to hold back in it’s relentless attack on the bodies neurological mainframe. Can affected individuals live past their teenage years? Well sure…anything is possible. The cold truth is the earlier neurological symptoms present and accelerate, the increased likely hood that patients will have a shorten outcome of life. Very sad realization to come to. No survivor stories yet; it’s fatal. Your help could change that.

[ Video link: http://bit.ly/egmBKX ]

As your watching the video please think of creative ways you can help spread the message. It might not be monetarily but it could be through other random acts of kindness. Keep in mind that Niemann-Pick Type C holds a lot of valuable information that could unlock doors to other common diseases that are cholesterol related.

Thank you for taking time to read this post and watching our video.

You can find us on Facebook: Niemann-Pick Children’s Fund

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For Brisan and Parker the understanding is NPC is not the complete picture of the issue but is something additional that they have. Although patients with NPC suffer a great deal of loss and affects everything most people take for granted, they can still have additional issues on top of NPC.

Several times the comparison has been presented to us for Von Willebrand Disease but every test comes back negative or inconclusive. Thus far it is being treated as an undiagnosed Platelet Dysfunction Disorder. One drug that they inject intravenous is Desmopressin also known as DDVAP. It’s original purpose is to help people who have issues bed wetting. What they discovered was it helped temporarily boost the Von Willebrand factor in the blood.

Here is a quick video from the infusions on Thanksgiving 11-25-2010. Unfortunately our last infusion is 11-29-2010 due to one of the two manufacturers closing their plant down. So this creates a shortage and is on indefinite hold until. We are currently in “limbo” on what other options that exist. So far DDVAP was the only one that worked efficiently.

Desmopressin (DDVAP) Infusions | Niemann-Pick Type C | Brisan & Parker Stults from Michael Stults on Vimeo.

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1. MyDunkTank.com Dare By Steve Hugunin | Niemann-Pick Type C

On July 30th I received an email back:

“Your story would be great for this. It’s unfortunate, and I’d hope that in telling the story there’d be some uplifting successes along the way, but it would certainly be a good cause for raising awareness. Basically this program is all about showing people doing good things, inspiring things, ambitious things…and how Palm can help do more by being better connected.”

We were elated that we had this opportunity! In conjunction we started our Facebook Page for the NPCF. We already had a “Cause” page but Palm wanted us to have more of a hub for information and sharing. You can visit our Facebook Page here and Like it : Niemann-Pick Children’s Fund.

Niemann-Pick Type C Disease is a rare neurological disease that affects very few. Maybe 75 in the United States currently. To put  into perspective there are well over 300 million people here in the United States. To say this disease is “rare” is an under statment.

With no cure or effective treatment as of today, this disease will claim the lives of mainly children and a handful of young adults. NPC stems from chromosome 18 where each patient has two mutated genes. One inherited from each parent. Those chances are one out of four with each pregnancy. Most carries of this gene are unaware and most medical professionals are equally unaware because of the “rareness” of NPC.

The core issue is the cells inability to metabolize cholesterol. To put it simply, something in the “recycling factory” of the cell malfunctions.  This is the good cholesterol your body needs to live. It is essential to everyone reading this post. You and I have the same gene (maybe not mutated).

Through this experience we will be sharing photos, videos, links, and posts with our Palm Phones. Our overall goal is to raise awareness. October is Niemann-Pick Disease Awareness month.

Read the full article here:  Palm Gives 500 Pre Plus Phones to Good Causes

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1. MyDunkTank.com Dare By Steve Hugunin | Niemann-Pick Type C
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Watch the video below and please share!

Summary edit of the Hollie and Annie films from sue lowe on Vimeo.

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Well we all saw this one coming and how much he loves his hair. After the two week time period he was able to raise $1,061 for the NPCF. A very remarkable job he did! We are incredibly thankful for his actions and his caring sensitivity to Brisan and Parker’s condition.

Enjoy watching the video below while we shave it all off! Steve your a great guy and you have a heart of gold.

Niemann-Pick Type C Disease | MyDunkTank.com | Steve Hugunin Dare

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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

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