The Joy of Jacob: TRI'ing to Raise Awareness

Sunday, September 16, 2012

TRI'ing to Raise Awareness

One week from today, Jacob's Auntie "Cake" (Kate) will be racing in the Virgin Active London Triathlon Olympic Distance in honor of Jacob. She has been using Facebook and an online fundraiser page to help raise awareness for this devastating disease, while also raising funds for the Niemann-Pick Foundation in the UK. Kate told us about her event several months ago and we were so touched to know that she would be racing this event for our little man. It makes our hearts happy to know that Jake is inspiring others to take on such personal challenges in support of a cause so near and dear to us.
As we celebrate Jake's 2nd birthday this weekend with close family, Auntie Kate will be partaking in the triathlon and raising awareness every stroke, pedal and step of the way...we couldn't think of a better gift!

If you are interested in donating to a wonderful cause, please visit her fundraiser page: http://www.justgiving.com/justforjake

and if you'd like to leave her an encouraging message feel free to leave a comment on the blog, so she can read about all those supporting her, Jake and a future cure for Niemann-Pick Disease!

Auntie Cake holding Jake on his very 1st Christmas

3 comments:

Jill FlintonSeptember 17, 2012 at 4:13 AM
Good luck! All the families are cheering for you!
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Cathy JohnsonSeptember 17, 2012 at 6:25 AM
What an awesome Aunt Mr. Jake has! Go Kate!!!
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AnonymousSeptember 17, 2012 at 1:44 PM
Kick some booty Kate! <3
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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

Sunday, September 16, 2012

TRI'ing to Raise Awareness

3 comments:

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