Niemann-Pick Type A

Niemann-Pick Disease, Type A (NPA) is an extremely rare genetic lysosomal storage disease.  The low level, or complete absence, of the enzyme acid sphingomyelinase (ASM) is responsible for the storage of the lipid sphingomyelinase in every cell in an NPA child's body. These cells are foamy or spongy as a result of the build up, which is how Quinn was preliminarily diagnosed (via liver biopsy).  Eventually, this will cause cell death and the failure of all major organ systems.


Debunking the Myths

There is very little information available on Niemann-Pick Disease, Type A.  And perhaps due to that very fact, much of the information that is available is inaccurate or misleading.


"The incidence rate of NPA is 1:250,000"

There actually is no known incidence rate because it is so rare.  But simple math immediately discounts this oft-cited rate.  There are just over 4 million babies born in the US each year.  Currently there are four known NPA cases in the States, with an average life expectancy of 2.5 years.  This puts the current domestic incidence rate at 1 : 2,500,000 - 10x rarer.

In New Zealand, the leading Niemann-Pick specialist has never come across an NPA case there, prior to treating Amber Jelsma (in fact, there have been no other known cases in Australasia) and has seen 1 adult with NPB.


"There are approximately 1,200 cases of Types A & B worldwide, with a majority being Type B or an intermediary form."

We can't speak to the total number of worldwide cases inclusive of types A/B and B, but we do know that there are currently seven (7!) known type A cases in the world.  Three in the US (Quinn and 2 others), 1 in New Zealand (Amber Jelsma), 1 in Germany (Hanna Thierfelder), 1 in China and 1 in Russia.  That makes this ratio 7:1193.  So yes, I suppose it's true that a majority are Types A/B or B but that wording doesn't exactly infer this rarity.


"The leading cause of child death of is cancer
."

According to the CDC's statistics, nearly 25% of all deaths under age 14 are caused by Congenital Anomalies such as inborn errors of metabolism and other genetic disorders.
(source: 
http://www.cdc.gov/injury/wisqars/index.html)


Niemann-Pick Disease Type C is a variant of the same disease as Types A and B

This is one that most NPD sites actually do try to clarify, but the name Niemann-Pick is very misleading and is effectively a misnomer.  Issues with the activity of Acid Sphingomyelinase (ASM) are common to all three types, leading initial research to consider types A, B and C to be variants of the same disease.


Modern research, however, confirms that Type C is a completely different disease from Types A and B (which are variants of the same disease).  In fact, the effected genes are on different chromosomes. Types A & B effect the 11th chromosome; Type C effects the 18th chromosome.  


Type C, while rare, is considerably more common than types A and B.

Media


Mainstream Media

TV Shows
Castle (Season 2, Episode 5. 2009)
"When the Bough Breaks"

Full Episode on Youtube


Books
Following After Trek (2012)
Available for purchase for 
Kindle or in Paperback


News Articles and Videos

Newsday (February, 2013)
"Lynbrook family hopes to give dying child a lifetime of memories." (article)


News 12 Long Island (February 2013)
"Family creates to-do list for terminally ill daughter." (video)

Whangarei Leader (February, 2013)
"Life a Daily Battle with Rare Disease" (article)


TGenToday
, Special Issue (January, 2013)

"Embracing the C4RCD" (article)
(scroll to page 12)

MomsEveryday. Texas (October 2012)
"Trek's Story" Part 1Part 2 (video)


Images AZ
. Arizona (April 2012)

"Meet the Laffoon Family" (article)
(scroll to page 8)


News 14 Carolina.
North Carolina (January 2012)
"Young girl fights for her life against rare disease." (article) (video)


Global News
Canada (October 2008)
"Damon's Story" (video)


Get to Know Other NPA Children


Trek Atlas Ingram (US)
April 11, 2011 - June 21, 2012 (14.5mos)
Our Sonny Life

Amber Jelsma (New Zealand)
June 27, 2011 - October 10, 2013 (2yr, 3.5mos)
Our Precious Amber


Wylder James Laffoon
(US)
May 15, 2009 - July 20, 2012 (3yr, 2mos)
Wylder Nation

Hanna Emilia Thierfelder (Germany)
April 17, 2011 - March 11, 2014
Hanna Emilia's bunter Garten (in German, but you can use Google Translate to translate to English if you browse using Chrome)

Jacob Brooks - A/B (US)
September 20, 2010 - November 15, 2012 (2yr, 1.5mos)
Kaitlyn Kay Bourgeault (US)
July 1, 2009 - March 22, 2012 (2yr, 8.5mos)
Kaitlyn's Korner

Faith Robbins 
(US)
July 3, 2005 - February 12, 2007 (1yr, 7mos)
Riley Robbins (US)
September 15, 2010-April 22, 2013 (2yr, 7mos)

Faith and Riley

Mia Walts
(US)
May 31, 2009 - October 29, 2011 (2yr, 5mos)

Adelaida Kay van Meter
(US)
June 13, 2010 - February 29, 2012 (20.5mos)
Adelaida Kay Van Meter, via Kaitlyn's Korner

Damon Eli Cardinal
 (Canada)
December 26, 2006 - April 16, 2008 (16mos)

Zoe Bachman
 - A/B (US)
December 19, 2003 - June 9, 2006 (2yrs, 5.5mos)

Sarah Elisabeth Glassman
(US)
January 30, 2007 - August 30, 2010 (3yrs, 7mos)

Joey Rogers
December 23, 1981 - February 20, 1984 (2yrs, 2mos)