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Niemann Pick It’s A RAce

Against Time

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Faith Robbins born 07-03-05

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At six months old Faith was diagnosed with Niemann-Pick Type A (NPA) a

rare and fatal disease.

There is no cure for this disease and on February 12, 2007 Faith was forced to leave our side..

Faith passed only a few months before her brother Chris was born. Unlike his sister he is only a carrier and can expect to live a healthy and full life.

However, his life wont be normal. Chris has a baby brother, Riley who was born September 15, 2010 and

was diagnosed with the same disease that took his sister.

NP is an inherited and fatal disorder. The symptoms usually

begin within the first few months of life.

NP occurs by mutations in a gene on chromosome 11. Thus, for one to have this disease they would have

inherited two faulty genes (1 from each parent,).

The enzyme affected by the gene defects is called acid sphingomyelinase (ASM) and its job is to break down a fatty

substance (lipid) called sphingomyelin (SM) which is found in every cell of the body.

If ASM is missing or does not work properly, sphingomyelin builds up inside cells. This leads to cell death and makes it hard for organs to work properly.

Those with Niemann-Pick type A develop progressive failure to thrive, liver dysfunction. It also causes mental disability, loss of motor

skills, and enlargement of the liver and spleen and becomes fatal in most by 18 months to 3 years of age.

By the age of six months, infants with the disease have difficulty

feeding, display an enlarged abdomen, and will begin to lose

the motor skills they have developed

Seizures and spastic movement are common.

Most will not learn to sit independently, crawl, or walk

Intellectual and motor skills will progressively and rapidly decline.

They may even have uncontrollable vomiting, irritability, lung infections, and difficulty sleeping

Please help our family battle this disease. Support Riley Robbins & NP

My Friends&

FamilyWill be there

..Will you?

We’re on a search for a cure & need your help…

Save the date &

Join us

March 00 2012 Faith Robbins07/03/05- 02/12/07

Riley Robbins 09/15/10-

Contact Information

Website: raceforriley.webs.com

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Lori Robbins: