A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Wednesday, October 31, 2012

Halloween Photos

I wanted to post these photos before the end of the day.  Happy Halloween!!

2007 - Almost 11 months

2008 - Almost 23 months

2009 - Almost 3 years

2010 - Almost 4 years

2011 - Almost 5 years
This was taken just a few weeks before he died

Recap of 2012 Awareness Month

October is Niemann-Pick Disease Awareness Month.

I've bombarded you with information and pleas for money and other ways to raise awareness and money.  So none of that today.  Instead here is the recap of all the entries.

October 1 - Photos of those with NPD
October 2 - Young Adult Onset of NPC
October 3 - Help Publish a Book
October 4 - The 2012 Niemann Pick Challenge
October 5 - NPD, What is it? Why is it a Child Killer?
October 6 - NPD Treatments
October 7 - The Doctors TV Show
October 8 - International Friends
October 9 - More Easy Ways to Promote Awareness
October 10 - Can I catch NPD?
October 11 - Dan's Legacy
October 12 - What is Type A and B?
October 13 - NPA Videos
October 14 - NPB Pictures
October 15 - Unusual Awareness
October 16 - Book Update
October 17 - Kid Friendly Ways to Promote Awareness
October 18 - What is Type C?
October 19 - NPC Videos
October 20 - Save Money and Raise Money
October 21 - Research Foundations
October 22 - Two Weeks Left!
October 23 - It's Official
October 24 - What is the NNPDF?
October 25 - Random Awareness Items
October 26 - Blood Test for NPC
October 27 - Legacy of Hope
October 28 - Family Blogs
October 29 - Family Businesses
October 30 - In Memory

Tuesday, October 30, 2012

In Memory

October is Niemann Pick Disease Awareness Month.

Today is a difficult day for the Lopez family.  It was one year ago when they lost their Gavin to NPC.  Kristen, Gavin's mom, had started a blog which we had followed daily during Gavin's last few weeks.  Kristen has continued the blog as a place to put her feelings and emotions.  Although made a few years ago, here is a video of Gavin.

Although I have never met Kristen and her family, I feel close to her....we are walking the same path at the same time.

Four years ago yesterday, little Riley Corbitt became an angel.  See her video.

Here is a (non-comprehensive) list of those who have been lost to all Niemann Pick Diseases.  Please take a minute and read through this list and say a quick prayer for comfort for these families.

Here are some pictures of those who have Niemann Pick Disease. There are 12 pages, and it is not a complete compilation.

Memorial Services at the NNPDF Conferences:
2012 in Nashville, TN
2011 in  Norfolk, VA
2010 in Toronto, Canada
2009 in Seattle, WA
2008 in Atlanta, GA

Monday, October 29, 2012

Family Businesses

October is Niemann Pick Disease Awareness Month.

Caring for a child with any sort of special needs is difficult.  Losing a child is a whole different thing.  Many families turn their challenges and loss into positive, productive businesses.  Please take a minute and look at these businesses. 

Willow Wicks - candles and spa products in memory of Breann Chavez (NPC)

Wyler Nation - merchandise and Warrier Baby book in memory of Wylder Laffoon (NPA)

Jarret Ingram - The Three Brothers go to the Beach! and Following After Trek in memory of Trek Ingram (NPA)

Rozetta Beckman - What Matters Most, Living with Young Adult Onset NPC, in memory of Chuck Beckman (NPC)

Stults' Sweets - cake pops and other sweet goodies in and around the Kansas City, MO area. Mother to Brisan and Parker (NPC) and Duncan.


Below are several 501(c)(3) charity organizations that have been set up by families to help fund research.  If you have some extra money, please donate it to one of these organizations or the NNPDF.

Ducks for Bucks - All money raised goes directly into the hands of families caring for children with NPC, so they can personally apply it towards their greatest need at the time.  Created by the Chavez family.

Lee King Bass Tournament - Hold a fishing tournament for adults that will provide funds for Niemann-Pick disease research  to find a cure for this devastating disease.

Breakthru Fund - We have established the Smith Family BReaK Thru Fund in honor of three of our children, Braden, Riley and Keaton, who have been diagnosed with Niemann-Pick Type C disease (NPC).

Cycle 4 Sam   - The Sam Roberts Family Fund is dedicated to the memory of Sam Roberts who passed away on April 19, 2005 at the age of 4 years 10 months. 

Race for Adam - The Race for Adam Foundation, a volunteer non-profit organization dedicated to funding research projects to find a treatment and cure for Niemann-Pick Type C disease (NP-C)

Hadley Hope - a non-profit corporation which allows us to raise awareness and funds for research, therapies, medication, clinical trials, and research that may potentially provide a cure for our children as well as others in the U.S. and around the world. 

All of these businesses and charities are available here, on the right side of the page.

Sunday, October 28, 2012

Family Pages

October is Niemann Pick Disease Awareness Month.

If it wasn't for families to have traveled this path before, and those who are currently traveling it, there wouldn't be as much information for those who are newly diagnosed.

Over the past 18 months I have learned a tremendous amount from other families - not just medical information (symptoms, "remedies", etc), but about PERSEVERENCE in the face of adversity, and above all LOVE.

I've listed below the blogs of other families that I currently follow.  Please send them some love too.

Type A/B

Angel Kaitlyn Bourgeault (NPA)

Jacob Brooks (NPA/NPB)

Angel Faith & Riley Robbins (NPA)

Quinn Linzer (NPA)

Angel Trek Atlas (NPA)

Angel Mia Watts (NPA)

Type C

Angel Gavin Lopez (NPC)

Tylor White-Richardson (NPC)

Katie Limer (NPC)

Kamryn Brumbeloe (NPC)

Lorna Tyrell, mom to angel Naomi (NPC)

Angel  Emily Hrback (NPC)

There are other families who have taken the blog further and created full websites with lots of information.  Prior to, and just after diagnosis, when we were researching NPC, we relied on the top two websites below a lot.   Some have blogs inside their websites as well.

Addi and Cassi (NPC)

The Stults Family (NPC)

Angel Wylder Laffoon (NPA)

Chase Reedy-DiGiovanni (NPC)

Angels Cathryn and Corynne Bouchard (NPC)

Dillon Papier (NPC)

Julia Kain (NPC)

Mindy Fagan (NPC)

Angel Luke Liegghio (NPC)

Angel Monica Taillefer (NPC)

All of these are accessible on right hand side of the page under the picture.

Saturday, October 27, 2012

Legacy of Hope

October is Niemann Pick Disease Awareness Month.

The NNPDF has started a new program called "Legacy of Hope"

What is the Legacy of Hope?
The Legacy of Hope is a program of the National Niemann-Pick Disease Foundation (NNPDF) that allows you (the Donor) to create a legacy for your family and to make a larger charitable gift than you might think is possible, while receiving some immediate benefits in the process.

How does leaving a Legacy of Hope work?
The Legacy of Hope utilizes various gift-giving strategies (such as bequests, beneficiary designations and  life insurance gifts) that will transfer part of your estate to the NNPDF at some time in the future without requiring cash right now.

Why should you leave a Legacy?
A Legacy gift will allow you to support the NNPDF in its essential mission of finding a cure for Niemann-Pick Disease and providing support services to individuals and families who suffer from this deadly disease.

What do you need to do to participate?
Contact the NNPDF office and we will assist you in completing the process, working together with your attorney and/or financial consultant or estate planner if you wish.

Type of Gift
Benefit to NNPDF
Benefit to You,
the Donor
Will or Trust Bequest
(Call the Foundation for sample bequest language)
Bequest could be used to fund larger research projects or clinical trials, support the general fund, or for other specifically-designated purposes
Opportunity to make a named gift

Estate tax deduction
Retirement/IRA Beneficiary Designation
Significant gift upon death of donor
Estate tax obligations can be decreased through a tax-deferred designation to a charity, which in turn will help reduce the overall estate tax liability

Insurance Policy
NNPDF receives the full face value or a percentage of face value of the policy upon death of donor
Income tax deduction for cash value of the policy

Premium payments may be deducted as gifts

Possible estate tax deductions

Eliminate tax on accumulated dividends

Please GIVE for the FUTURE of the children and adults with Niemann-Pick Disease!

For more information, or for assistance laying the groundwork for your Legacy of Hope, please contact:
PO Box 49
Ft. Atkinson, WI 53538
Tele: 920-563-0930
Fax: 920-563-0931
Email: nnpdf@nnpdf.org

Friday, October 26, 2012

Blood Test for NPC

October is Niemann Pick Disease Awareness Month.

How do you diagnose Niemann Pick Diseases?  Type A and B can be done with a blood test and a waiting period of several to see if the test is positive.  Type C has a skin biopsy as the approved method.  There is a blood test available but (as of now) I don't believe it has been approved to diagnose Type C.

Here is a video discussing the NPC blood test.

Dan was tested for Type A and B when he was less than one year old.  Both came back negative.  I don't ever remember discussing the skin biopsy test for Type C with the doctors.  When Dan started showing more symptoms in February 2011, the doctor finally mentioned testing for Type C.  Up until that point we were under the impression that he had been tested for it (and in some way he had been....just not the right type).  The doctor never completed the prior approval paperwork to do the test.  In late April or early May I contacted our specialists in Boston for help.  The paperwork was completed and submitted.  The insurance company denied it.  I was getting ready to appeal the decision when we were admitted to Boston Children's.  While an inpatient the blood test and skin biopsy tests were completed.  Under an expedited request, we had results 8 days later on the blood test - POSITIVE. 

We found out later that the skin biopsy showed a different diagnosis, which was reviewed after the blood test and found to also be POSITIVE for Type C.

The ultimate goal is to have this as part of newborn screening.  It took us 4 1/2 years to get a test which provided a diagnosis in a week.  Typically the blood test takes a few weeks. 

Would you want to know at birth that you only have a short time to enjoy?  I would have.  There are so many things that we would have done differently had we known.

Thursday, October 25, 2012

Random Awareness Items

October is Niemann Pick Disease Awareness Month.

During this month, I have put out a bunch of items on awareness.  I wanted to provide a few updates.

Following After Trek
The Ingram's started a Kickstarter page to get their book published.  I am excited to report the final numbers: 168 backers, $6,296!  This will allow them to print 500 paperback copies of the book.  You can see more about the Kickstarter project here.

Calender for Awareness
A friend of an NPA family is a Creative Memories Consultant in Canada.  She is creating a calendar highlighting over 30 people with the different types of Niemann Pick Disease.  Only a fixed number of calendars will be printed.  Orders need to be placed by October 30.  If you are interested ($32 each Canadian which includes shipping), please contact Elsa for an order form at: cardinal.hudson (at) live.ca

An NPA Video
Damon (Dec 26, 2006 - April 16, 2008)

Wednesday, October 24, 2012

What is the NNPDF?

October is Niemann-Pick Disease Awareness Month.

Well, after my announcement yesterday, I figured I better explain a bit about the National Niemann Pick Disease Foundation (NNPDF).

To start off, the website is www.nnpdf.org.

The mission and goals:

The National Niemann-Pick Disease Foundation is a non-profit [501(c)(3)] organization that supports and promotes research to find a cure or treatments for all types of Niemann-Pick Disease and provides support services to individuals and families affected by the disease.

NNPDF's VISION is a world where Niemann-Pick disease is no longer a threat to a full and productive life for patients and their families. Medical professionals, thoroughly familiar with the disease, will promptly and accurately diagnose it early in the patients life, and then prescribe an appropriate therapy. Families affected by Niemann-Pick disease will not be devastated by the diagnosis or its impact on their lives. Individuals with Niemann-Pick disease will have the same chance as their siblings and peers to run and play, to hope and achieve, and to live out their dreams.


The NNPDF provides services to all individuals affected by Niemann-Pick Disease regardless of their ability to pay dues.  While we ask and hope that families will help the Foundation through personal contributions and fundraising initiatives, we do not require any payment for our services.  We hope this opens NNPDF to more individuals and families affected by Niemann-Pick Disease and who share our commitment to find treatments and a cure.

There are different membership applications: 1) immediate family and 2) extended family, community supporters, and friends.  These applications are available at the website.


The NNPDF provides lots of support to families (and others) of those affected.  The yearly Family and Medical Conference is (probably) the biggest gathering of those affected.  But there are also e-mail groups, newsletters, the website, support packets of information, the online store, the Facebook page, and the educational initiative.

But the NNPDF isn't alone in it's mission to support and promote research and providing support to those affected.  Here are some other international organizations:

  • International Niemann-Pick Disease Alliance (INPDA)
  • Canadian Chapter of NNPDF (CCNNPDF) (Canada)
  • Vaincre Les Maladies Lysosomales (France)
  • Niemann-Pick Selbsthilfegruppe (Germany)
  • Fundacion Niemann-Pick de Espana (Spain)
  • Niemann-Pick Disease Group (UK)
  • Associazione italiana Niemann-Pick (Italy)
  • Tuesday, October 23, 2012

    It's Official

    October is Niemann Pick Disease Awareness Month.

    I was informed this week that I was officially elected to the Board of Directors for the National Niemann Pick Disease Foundation.  My 3-year term officially starts at the first of the year, although I have been involved since we went to Nashville for the Family and Medical Conference in August.

    Check out the Board Picture and information about the Directors.

    Every board member has some connection to Niemann Pick Disease.  Most are parents of children, but some are other family members, friends, and those affected.

    This position is a voluntary position and my responsibilities include helping the NNPDF fulfill it's mission of supporting and promoting research to find a cure or treatment for all types of Niemann Pick Diseases and providing support services to those affected and their families.

    I look forward to lending my knowledge and experience to this wonderful team.

    Monday, October 22, 2012

    Two Weeks Left!

    October is Niemann Pick Disease Awareness Month.

    At the beginning of the month I wrote about the 20/20 Challenge to raise awareness and funds.  The Challenge ends November 5.  All paypal/online credit card donations have to be made by then.  All checks have to be dated by then and postmarked by November 9.

    But that isn't the only event going on to raise awareness.  Here are some other events that are going on:

    Thirty-One Party

    Golf Tournament

    Coin Drive in honor of Mindy Fagan

    Garage Sale and Walk in memory of Riley Corbitt

    Boutique, Raffle and Bake Sale in honor of Mitch Brubaker

    Family Fun Night in honor of Ty Quandt

    Scentsy Fundraiser (Type A and B)

    Scentsy Fundraiser (Type C) - goal is to get 1000 Scentsy Buddies to the NNPDF for distribution

    Birthday Party at Cocktails and Creations in memory of Breann Chavez

    Calendar of those affected (link coming soon!)

    Willow Wicks Candles (ongoing)

    Kids Behavior Control Exercise (to purchase click here) (ongoing)

    To see a map of where these events are taking place, click here

    To see a current list of Fundraising events, click here

    Sunday, October 21, 2012

    Research Foundations

    October is Niemann Pick Disease Awareness Month.

    Many reading this had never heard of Niemann Pick Disease before they met me or another family who has been affected.  Unfortunately that is the case with most rare diseases - they aren't well known.

    October is also Breast Cancer Awareness Month.  Now, I'm not saying that breast cancer isn't important, because it is, but there is tons of money directed toward breast cancer research.

    But what about research into rare diseases?  What about research into Niemann Pick Diseases?

    There are several organizations that fund research into Niemann Pick Disease:

    Dana's Angels Research Trust (DART):

    Andrew and Dana
    Andrew and Dana

    "Dana’s Angels Research Trust (DART), a 501(c)(3) organization with strictly charitable purposes, was founded by Phil and Andrea Marella to fund medical research, medical education, or medical or hospital care for the treatment or cure of Niemann-Pick Type C disease (NPC) or other similar genetic diseases.

    From the age of five, it was apparent that the Marella’s daughter Dana, a happy, caring and energetic child, had visual and learning difficulties. Since that time, Dana’s visual and cognitive abilities, and her balance have become progressively worse.

    After years of searching for answers to her challenges, Dana was diagnosed in 2002 at the age of eight with NPC, a genetic disorder that prohibits the metabolism of cholesterol and other lipids. In 2004, at the age of 5, Dana’s brother Andrew, the Marella’s 4th child, was also diagnosed with NPC.
    DART aims to help all of those (adults and children) suffering from the disease of NPC. Our efforts may also help millions of people suffering from heart disease, strokes, Alzheimer’s disease and other disorders that appear to be related to the metabolism of cholesterol."

    The Ara Parseghian Medical Research 

    The Ara Parseghian Medical Research Foundation is a grassroots, non-profit organization dedicated to funding medical research projects to find a treatment for Niemann-Pick Type C (NP-C) disease and related neurodegenerative disorders.

    The Foundation was founded in 1994 by Parseghian family members shortly after they learned that three of the four children of Mike and Cindy Parseghian were diagnosed with NP-C disease. The Foundation is named after Ara Parseghian, the legendary Notre Dame Football coach and the children’s grandfather.

    The Ara Parseghian Medical Research Foundation was incorporated in the state of Arizona in October 1994 and received 501(c)(3) status in December 1994. 
     About APMRF

    The Parseghian’s son, Michael, lost his battle with NP-C in 1997 at age 9. Christa passed away in October of 2001 at the age of 10. Marcia died in 2005 at the age of 16.
     As of January 2009, 25 medical research projects are being funded by the Foundation in the United States and throughout the world. Another 50 grants have been funded by the Parseghian Foundation in the past.

    These two organizations sometimes join together with the National Niemann Pick Disease Foundation (NNPDF) to provide grants to the same research projects to further research to benefit these diseases and others.

    Saturday, October 20, 2012

    Save Money and Raise Money

    October is Niemann Pick Disease Awareness Month.

    Who isn't up for saving money?  Now you can save money at the grocery store and with some online coupons and help raise funds for NNPDF.  So how can you do both?

    Well, sign up for Common Kindness and select the National Niemann-Pick Disease Foundation as the charity.  Use this link to make it easier: National Niemann-pick Disease Foundation - CommonKindness

    How much money goes to my favorite charities and causes?
    It is really up to you! Each time you redeem a coupon, the brand that posted it pays CommonKindness an advertising fee. CommonKindness shares 20% - 66% of funds received with charities.
    What does it cost to become a member of CommonKindness?
    Not a cent! CommonKindness membership and access to the website's resources are completely free. In addition, you save money while your favorite charities earn money every time you clip coupons on CommonKindness.

    Is this tax deductable?
    There is not an opportunity for an individual to receive a tax donation. CommonKindness makes all donations directly to the charity you have chosen.

    The link to Common Kindness is also on the right sidebar at the bottom under "Help the NNPDF".

    Friday, October 19, 2012

    NPC Videos

    October is Niemann Pick Disease Awareness Month.

     To compliment yesterday's post, here are some videos of those with NPC.

    Gavin (April 14, 2004 - Oct 30, 2011)

    Brisan and Parker

    Hollie (from England)

    Thursday, October 18, 2012

    What is Type C?

    October is Niemann Pick Disease Awareness Month.

    Dan had Niemann Pick Type C.  So I know more about NPC than the other types.


    This is the most simple explanation:

    Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or pulmonary disease, have hypotonia and developmental delay. The classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia, vertical supranuclear gaze palsy (VSGP), and dementia. Dystonia and seizures are common. Dysarthria and dysphagia eventually become disabling, making oral feeding impossible; death usually occurs in the late second or third decade from aspiration pneumonia. Adults are more likely to present with dementia or psychiatric symptoms.

    NPC occurs in all ethnic groups. It is inherited as an autosomal recessive condition. This means that affected individuals have two altered copies of either NPC1 or NPC2, having inherited one copy  from each parent. Each unaffected parent (called a carrier) of an affected individual has one altered copy of the disease-causing gene and one normally-functioning copy of that gene. For a couple who are both carriers, there is a 1 in 4 chance with each pregnancy that a child will be affected by NPC, a 2 in 4 chance that the child will be a carrier of NPC, like the parents, and a 1 in 4 chance that the child will be neither a carrier nor affected.

    NPC is an exceptionally variable condition. The symptoms of the disease are shared by a number of related lysosomal disorders. Further, the rate of disease progression varies from patient to  patient, even within families where more than one child is affected. This variability makes it extremely difficult to recognize and diagnose NPC, and often leads to delay in confirmation of the diagnosis.

    NPC is often classified into three groups, recognizing that, in reality, there is considerable overlap and that every patient is unique:

    1) Early-onset NPC (early and late infantile)
    This form of the disease can begin before delivery, at delivery, or throughout the first two years of life.  Symptoms can include:
    a. Abnormal build-up of fluid in the abdomen, called ascites
    b. Enlarged liver and spleen
    c. Severe liver disease with jaundice that can last for weeks or months
    d. Respiratory failure
    e. Very early death in some cases
    f. Decreased muscle tone (hypotonia)
    g. Developmental delay

    2) Classic childhood onset NPC
    This form of the disease is often first recognized at about the time a child is entering school. Signs may be subtle at first, but gradually become more noticeable, and can include:
    a. Clumsiness, unsteadiness of gait, problems walking
    b. Enlarged liver and/or spleen – but this may be absent or appear to resolve
    c. Difficulty with voluntary upward and downward eye movements
    d. Learning difficulties and worsening intellectual impairment (with eventual dementia)
    e. Slurred speech and swallowing difficulties
    f. Sudden loss of muscle tone, leading to falls (cataplexy)
    g. Seizures
    h. Sleep disturbance

    3) Adult or late-onset NPC
    Occurring from later adolescence into and through adulthood, this variant may include:
    a. Neurologic disease as seen in childhood onset NPC
    b. Major psychiatric illness (schizophrenia, depression, psychosis) with subtle, often unrecognized neurologic signs
    c. Dementia

    Current treatment strategies for NPC focus on management of symptoms to improve the quality of life for affected individuals and their families.These include, but are not limited to:
    a. Control of seizures, cataplexy and other neurologic symptoms
    b. Evaluation and treatment of sleep difficulties
    c. Chest physical therapy and prevention of pneumonia
    d. Physical therapy to maintain mobility
    e. Swallowing and nutrition assessment; G-tube placement
    f. Routine developmental and skills testing

    Wednesday, October 17, 2012

    Kid Friendly Ways to Promote Awareness

    October is Niemann Pick Disease Awareness Month.

    I've posted about Goodsearch.  I've posted other easy ways to promote awareness.  Here are some easy kid friendly ways.  Obviously, don't think these are the only options out there.  If you have an idea, do it!

    Top 5 Kid-Friendly Ideas

    These are "tried and true" activities that have been done by NNPDF families and supporters to raise awareness and funds, all while having fun with the kids!

    1. Have a lemonade stand or sell outgrown books and toys or have a bake sale to raise money for research.
    2. Have a backyard carnival with lawn games, water games, contests, etc., to bring the neighborhood together in support of those affected by Niemann-Pick Disease.
    3. When hosting a birthday party, ask that guests make a donation to the foundation in honor of the birthday child in lieu of bringing gifts.
    4. Have a walk-a-thon or a bowl-a-thon and pizza party with proceeds to benefit the NNPDF.
    5. In cooperation with a local ball club (or other sports team), sell tickets to a game with a portion of the proceeds to benefit the NNPDF in honor of a local child affected by NPD.

    Tuesday, October 16, 2012

    Book update

    October is Niemann-Pick Disease Awareness Month.

    Remember my post about helping to get a book published?  Today is the last day to help the Ingram family.  They have well exceeded their goal of $3,000 to get 200 books published.  All the extra funds will be used to publish more books.

    Please take a minute to go to the Kickstarter website and look at the information posted there and if you can provide any last minute help, I know they would appreciate it.

    Below is the video that they created to include on the page.  I am posting it here so everyone can view it when it is convenient, even after the Kickstarter project is over.

    A little about the Ingram family:
    When their 3rd son, Trek, was born in their driveway, they knew they had to follow their dreams.  So they sold their possessions and purchased one-way tickets to Thailand.  Before they left, they found out that Trek had Niemann Pick Type A, the most serious form of Niemann Pick Disease.  After consulting with doctors, researchers and their own inner emotions, they decided to follow their dream and travel the world.  They spent time in Central and South America.  They returned stateside for a bit and then took off to Japan and Thailand, where Trek died in their arms.

    Monday, October 15, 2012

    Unusual Awareness

    October is Niemann Pick Disease Awareness Month.

     Many families and friends find their own ways to publicize Niemann Pick Diseases.  These events are as different as the families.  And don't forget about the NNPDF Challenge too!

    Here are a few:

    Skype Video  on Moms Everyday, a tv show in Texas
    Part 1, Part 2

    Scentsy Party - click the Niemann Pick Party.  The party host is hoping to donate 1000 Scentsy Buddies to the NNPDF.

    Dinner Out at a local restaurant.  This family is the first one we met when we got to Nashville.

    Good Housekeeping Article.  The Hempel family has been on the forefront in getting rare diseases noticed and funding for all of them.

    Sunday, October 14, 2012

    NPB Photos

    October is Niemann-Pick Disease Awareness Month.

    To continue the information on Types A and B, here are some pictures of those with Type B.


    Collin and Cohen

    A few others with Type B from the conference

    Saturday, October 13, 2012

    NPA Videos

    October is Niemann-Pick Disease Awareness Month.

    To continue the post from yesterday, here are some videos of those with NPA.

    Wylder (May 15, 2009 - July 20, 2012)

    Kaitlyn (July 1, 2009 - Mar 22, 2012)

    Tehyez (June 9, 2008 - April 27, 2011)

    Faith (July 3, 2005 -  Feb 12, 2007)

    Friday, October 12, 2012

    What is Type A and B?

    October is Niemann-Pick Disease Awareness Month.


    Type A and B are significantly different than Type C.  These types are also known as Acid Sphingomyelinase Deficiency (ASMD).

    Niemann-Pick Disease due to ASMD is inherited as an autosomal recessive condition. This means that affected individuals have two altered copies of the gene called SMPD1, having inherited one copy from each parent. Each unaffected parent (called a carrier) of an affected individual has one altered copy of the disease-causing gene and one normally-functioning copy of that gene. For a couple who are both carriers, there is a 1 in 4 chance with each pregnancy that a child will be affected by ASMD, a 2 in 4 chance that the child, like the parents,will be a carrier of ASMD, and a 1 in 4 chance that the child will be neither a carrier nor affected.

    ASMD NPD occurs in all ethnic groups, but as with all genetic disorders may be more common in certain groups than others. For example, the severe, neurological form (Type A) appears to be more frequent among Ashkenazi Jewish individuals (carrier frequency of ~1:90 to 1:100).

    Niemann-Pick Disease due to ASMD is usually classified into two groups: 1) Type A, in which affected individuals have severe neurological problems andusually do not survive past age 3, and 2) Type B, in which affected individuals do not have neurological problems and may survive into adulthood.

    However, forms of ASMD NPD between these two extremes do occur, and the diagnosis is sometimes called Intermediate NPD A/B. There can be considerable overlap along the entire disease spectrum with symptoms ranging in onset, complexity and severity, and every patient’s case is unique.

    The symptoms of ASMD NPD are shared by a number of related lysosomal disorders. Further, the rate of disease progression varies from patient to patient, even within families where more than one child is affected. This variability contributes to the challenges in diagnosis, and often leads to delay in confirmation of the diagnosis.

    The first symptom in NPD-A is hepatosplenomegaly, usually noted by age three months; over time the liver and spleen become massive. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most children succumb before the third year.

    NPD type B, later in onset and milder in manifestations than NPD type A, is characterized by hepatosplenomegaly with progressive hypersplenism and stable liver dysfunction, gradual deterioration in pulmonary function, and atherogenic lipid profile. Progressive and/or clinically significant neurologic manifestations occur infrequently. Survival to adulthood can occur.

    Niemann-Pick Disease Type A (NPA)
    Onset of symptoms very early, usually within the first few months of life
    Enlarged liver and spleen
    Feeding difficulties
    Failure to Thrive (FTT)
    Progressive loss of motor skills, especially after one year of age
    Cherry red spot on retina
    Frequent respiratory infections
    Niemann-Pick Disease Type B (NPB)
    Later age at onset of symptoms
    Enlarged liver and spleen in childhood
    Gradually worsening lung function with susceptibility to respiratory infections
    Altered blood lipid profile
    Progressive evidence of cardiovascular and liver disease
    Decreased platelet count
    Delayed growth, short stature

    Thursday, October 11, 2012

    Dan's Legacy

    October is Niemann Pick Disease Awareness Month.

    If you read the story of our journey to get Dan diagnosed (also the top link on the left side), you see the difficulty in getting a diagnosis.  We are not alone in that difficult journey.

    Near the end of the article I write about meeting with Dan's neurologist in Boston.  We did meet with him.  We gave him the 6+ inches of paper medical records we had and a CD with imaged copies of those records.  We also gave him 2 DVDs of the videos of Dan's life, from near birth to near death, all chronologically dated.  The last item we gave him was a few pictures of Dan for him to put in his office as a reminder of rare diseases.

    We did the same thing with the local neurologist, although he didn't get the paper records.

    I will be sharing the same records with the Center of Rare and Neglected Diseases at the University of Notre Dame.

    Since I have provided the doctors with Dan's records, I have heard from them several times, requesting permission to share some of the information with colleagues or in seminars.  I have willingly and eagerly provided my consent.  Although Dan's name is not used in these seminars, his medical progression and chart information is.  And he is teaching others about THIS rare disease.

    There is a belief that every person is put on this earth for a particular reason.  Maybe Dan's reason was to share his story and help spread awareness.

    Wednesday, October 10, 2012

    Can I catch NPD?

    October is Niemann-Pick Disease Awareness Month.

    Niemann-Pick Disease is not like the flu.  You can't catch it by being near someone affected.  NPD is a genetic mutation that is determined at conception.

    Here is a refresher from biology class.

    All types of NPD are inherited in an autosomal recessive pattern and can affect both males and females. The disease occurs when both copies of a person's gene have a mutation (a change in a gene which causes it to function incorrectly). Carriers have one normally functioning copy of the gene and one copy that does not function correctly due to a mutation; carriers do NOT have NPD. Being a carrier of NPD is not known to lead to any health problems. Less than 1% of people are carriers of any of the NPD genes.

    A person with NPD inherits one gene mutation from each parent, both of whom are carriers. Each child of two carrier parents has: a 25% chance of being unaffected and not a carrier (having two working copies of the gene), a 50% chance of being an NPD carrier (having one functional copy and one non-functional copy, like his/her parents), and a 25% chance of having NPD (having no working copies of the gene).


    Blood relatives (siblings, aunts/uncles, cousins, etc.) of patients with NPD may also be carriers of an NPD gene mutation.  If the mutations in the affected family member are known, definitive carrier testing can be done for these relatives.  

    The different details of each family history will cause the risk figures and other genetic counseling issues to vary from family to family, and in members of the extended family.  Genetic counseling is recommended for all couples in which both partners are known to be carriers or if one partner is a known carrier and the other's status is uncertain.

    Tuesday, October 9, 2012

    Politics - Not my favorite subject

    It's that lovely time of year when the television ads are dominated by advertisements for one candidate or another.  Truthfully, I mute them or change the channel.  The 30 second sound bite is just that, a sound bite - which may or may not be true, or taken out of context, or changed in some way. 

    I do my duty, and vote for the people I think will do the best job for my needs and in the area I live - I don't vote for any one particular party.  In fact, I am not even registered in any political party!  I can still vote in any general election, just not primary elections.

    But that is not the reason for this post.  A good friend of mine has, for almost 2 years, been searching for a diagnosis for her daughter.  We have traveled similar paths of tests, Medicaid regulations, and hospital stays.  She had to become a stay-at-home mom, leaving a doctoral program, because of her daughter's needs.  And she has a significant amount of time to do research on all sorts of things, including the politicians.

    A few weeks ago, she posted on her blog about The Election.  I think it very clearly explains the predicament of middle class families with children that have significant medical needs.  She recently followed it up with a post about Medicaid.

    Whether you agree or not, please read the posts and truly think about who you will vote for this November.

    More Easy Ways To Promote Awareness

    October is Niemann-Pick Disease Awareness Month.

    I already wrote about an easy way to help the NNPDF through Goodsearch.  Here are some others.

    Top 5 Easy Ideas:

    These ideas are simple and quick ways to raise awareness of Niemann-Pick Disease and to start a conversation with those who may have never heard of it before.
    1. Use the NNPDF's 20th Anniversary logo on your email signature, your Facebook page, your blog, etc. JPG
    2. Distribute PERSEVERE wristbands to 20 friends, family members and co-workers. Order form
    3. Purchase a PERSEVERE window decal and display it on your vehicle. www.etsy.com/shop/victorydecals
    4. Hand out NNPDF brochures to 20 people who have never heard of the disease before. NPC,   ASMD,   Order form
    5. Display a poster about Niemann-Pick Disease at your workplace, church or organization's meeting room. Order form w/pics

    I have been wearing my periwinkle PERSEVERE wristband since Nashville.

    Monday, October 8, 2012

    International Friends

    October is Niemann-Pick Disease Awareness Month.

    NPD is not just confined to the United States.  There are several families that I talk with in United Kingdom that have also lost their children, and others that have children who are affected.  Below is a small sampling.

    Below is a video of Calum Burdon, from the UK, who lost his battle on December 26, 2011.  Calum reminds us so much of Dan, although Calum was a couple of years older.

    This is a video of Ben (and his sisters), from the UK, who also lost his battle to NPC in April 2012.

    This is Anabel in Portugal.

    This is Nanami in Japan.

    From Australia.  Sadly Matt (Sitting) lost his battle with NPC Disease on July 14, 2012. 

    Damien in Switzerland with NPB

    Amber in New Zealand  with NPA.  We had the wonderful pleasure of meeting this darling and her parents when we were in Nashville.