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JONAHS JUST BEGUN-FOUNDATION TO CURE SAN...

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JONAHS JUST BEGUN-FOUNDATION TO CUR...
CROWDRISE FEATURED : Feb 10, 2013
Tax ID: 27-2957730
BASED: Brooklyn, NY, United States

CHARITY WEBSITE: http://www.jonahsjustbegun.org

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Jonah's Just Begun – Foundation to Cure Sanfilippo Inc. is a 501(c)3. We have two goals: 1) to drive the science that will lead to a cure; 2) to raise awareness for all rare diseases. We also empower and encourage others affected by rare diseases to advocate for cures.

The foundation was formed after Jonah Weishaar, the son of Jill Wood and Jeremy Weishaar, was diagnosed with Sanfilippo type C at 22 months old. Jonah was asymptomatic at the time of his diagnosis and still is.


Jill and Jeremy hit the ground running, locating the world’s few scientists that were working on Sanfilippo, and seeking the support of like-minded parents. JJB brought these parents, scientists and clinicians to New York for a meeting in May of 2011, just one year after Jonah’s diagnosis. Together they identified the three most promising approaches to a treatment. The parents went home filled with hope and began their grassroots fundraising efforts. The scientists went back to their labs, inspired by the parents. Today there are half a dozen Sanfilippo research projects in progress.


Sanfilippo is fatal and there is no treatment. For Jonah and friends, the clock is ticking. Jonah will be five this July; right now he’s in the prime of his life. If the disease is not halted soon he will have profound brain damage, eat from a feeding tube and be unable to walk or talk by the time that he is a teenager.
 

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Sanfilippo Syndrome is caused by a defect in a single cell. It is an inherited disease of metabolism. This means that the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (aka GAGs). Sanfilippo syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS III.
 
Sanfilippo Syndrome occurs when the enzymes the body needs to break down  Heparan Sulfate (HS) are absent or are defective. When HS is not broken down, the body does not release it. Instead, it is stored inside the lysosomes of every cell in the body. There are 4 versions of Sanfilippo, designated Sanfilippo A, B, C and D. Type C is the most rare. It occurs in 1 in 1.4 million live births.

Sanfilippo is an insidious disease that often goes undetected for years. Most children are born with no visible signs that anything is wrong. It’s not until the preschool years that children start to show delays or deformities; even then, the disease is often misdiagnosed. Highly specialized and focused testing must be done in order to diagnose Sanfilippo.

Tax ID: 27-2957730 • http://www.jonahsjustbegun.org

Fundraisers

Climbing Mont Blanc is easy Compared to losing a child

Climbing Mont Blanc is easy …

Amount Raised:

$1,230

 

123% Raised of $1,000 Goal

A Birthday Wish For Children with MPSIII

A Birthday Wish For Children…

Amount Raised:

$2,596

 

52% Raised of $5,000 Goal

Save Me from MPSIII

Save Me from MPSIII

Amount Raised:

$50,846

 

51% Raised of $100,000 Goal

Jonny Lee Miller - Foundation to cure Sanfilippo

Jonny Lee Miller - Foundatio…

Amount Raised:

$209,066

 

42% Raised of $500,000 Goal