The Joy of Jacob: Wear That You Care

Monday, February 18, 2013

Wear That You Care

We need your help!! On Thursday, February 28th, we'd like to ask that all of our friends, family and Jacob supporters join us in observing Rare Disease Day.

World Rare Disease Day is an annual observance held on the last day of February (February 28th or February 29th in a Leap Year -- a rare day) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families.

For those of you who have followed Jacob's blog, you probably already know that Niemann-Pick Disease is among one of the 7,000 rare diseases that exist. Jake was one of only four children in the United States living with Niemann-Pick type A before this horrid disease took him from us. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide. Let's raise some awareness so that we don't have to read awful statistics like this. Better yet, let's raise some awareness so that some day children like Jacob will no longer have to suffer from rare disease because there will be better genetic testing, more research, actual treatments, and CURES!!

So, what can you do to show your support??

Post Jacob's picture on your Facebook page. Heck, use it as your profile picture for even more exposure! Make sure to tag @GlobalGenes in all your pictures
Wear your blue Joy of Jacob PERSEVERE wristband(s) and post pics to my/your Facebook page wearing them along with messages of support for Rare Disease Day. Send me an e-mail ASAP if you need a wristband...we still have a few left.

Join the Global Gene's Project's Wear That You Care movement and wear your favorite pair of blue jeans in support of rare and genetic disease awareness.
If you're so inclined, make a donation to the National Niemann-Pick Disease Foundation in memory of our little angel Jacob. Donate here: National Niemann-Pick Disease Foundation

"Be the change you wish to see in the world." - Ghandi

2 comments:

Cathy JohnsonFebruary 19, 2013 at 8:49 AM
I wonder how badly I will shake things up if I wear my favorite jeans that day - I have to attend my company's Board of Directors meeting! Taking every opportunity I can this month, Sarah, to raise rare disease awareness. I have extended family with two children with San Filippo Syndrome, another ugly thief of our precious little ones. I love that Ghandi quote - there is no better advice! xoxo
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MeaganFebruary 19, 2013 at 1:28 PM
Can I get a wristband?
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Niemann-Pick Disease

Niemann-Pick Disease is a lysosomal storage disease, which causes fatty substances called lipids to collect in the cells of the liver, spleen and brain. The disease is genetically-inherited, but it is considered a recessive trait. In order for a child to have Niemann-Pick Disease, both parents must be carriers of a genetic mutation causing Niemann-Pick. There are three main types of Niemann-Pick Disease -- Types A, B and C. Types A and B are also referred to as acid sphingomyelinase deficiency (ASMD).

Genetic testing revealed that Jacob had Niemann-Pick Disease type A/B (also referred to as an intermediate form), which is a combination of the most severe and the least severe form of the disease. His body produced a very minimal (3%) amount of an enzyme called acid sphingomyelinase (ASM), which helps break down fat. Since Jacob’s body didn’t produce much of this enzyme, his body had great difficulty getting rid of ASM. The sphingomyelin had nowhere to go so it accumulated in his cells, eventually causing cell death and the malfunction of major organ systems.

Those with Type A typically live to be only 2 to 4 years of age, whereas, patients with NPB generally have little or no neurologic involvement and may survive into adulthood, though there may be health complications. Type B individuals usually have enlarged livers and spleens, and respiratory problems are common. The enlargement of organs and the respiratory problems can cause cardiovascular stress. With Jacob, it was unknown what the exact progression of his disease would be. Shortly after Jacob's diagnosis, it became apparent that his disease was presenting in a more aggressive form and he did have neurologic impact. There are approximately 1,200 cases of type A and B worldwide with the majority being Type B. Unfortunately, there is currently no treatment or cure for the disease and care is mostly supportive.

The Joy of Jacob

Monday, February 18, 2013

Wear That You Care

2 comments:

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