The Joy of Jacob: You Care About Rare!

Friday, March 1, 2013

You Care About Rare!

A gigantic THANK YOU to each and every one of you who helped to raise awareness on Rare Disease Day!! My Facebook and Instagram feeds were completely filled with pictures of Jake, and of so many people proudly wearing Joy of Jacob PERSEVERE wristbands, blue jeans, and handmade ribbons. A family friend of ours (a teacher) even had her entire class wear jeans to school and they shared at their morning assembly what Rare Disease Day meant to them. Simply amazing! We are so very grateful for the immense amount of love and support that we continue to receive. Unity creates HOPE!!

Here's a small sampling of what was plastered all over the social media networks for thousands to see!

Baby sister Kelly helping raise awareness for her big brother

Special thanks to my amazing work peeps for the handmade ribbons and signs for Jakey

Jake's supporters at Dalala's Daycare...check out that cute "Wear That You Care" sign : )

It is our hope that by raising awareness, one day children won't have to suffer from Niemann-Pick and other rare diseases because there will be better genetic testing and more funding for medical research that will lead to cures!

Admittedly, the day was bittersweet because it was a sad reminder of why we have to advocate for rare diseases like Niemann-Pick. We miss Jake so very much! There are no words that can truly explain what it feels like to hear that your child has a rare terminal disease with no cure. And, there are no words to describe the suffering we have felt after experiencing the most devastating loss of our little boy who we love with all of our hearts. We HATE Niemann-Pick Disease!!! We hate it for slowly taking our son away from us bit-by-bit and for forcing us to watch our brave little man suffer, while depriving him of the simplest milestones and pleasures that come so naturally to other children. NO child and NO parent should ever have to experience what we went through, but -- they do! That's why it is so imperative to raise awareness.
These are some of the beautiful faces of the children (our NPD family) affected with Niemann-Pick during Jacob's lifetime and links to the blogs of our fellow type A kiddos. Click on the child's name to view their blog.

PERSEVERING

Quinn - Our sweet friend Quinn has become quite the celebrity! News of this special girl and her parent's efforts to give her the most wonderFULL life possible is spreading all over -- she was even featured on people.com.

Riley - Handsome little red head. He reminds me a lot of Jakey and was born just a few days before him.

Amber - the cutest little kiwi from New Zealand

~ ANGELS ~

Mia - We never have connected with her parents, but she has pictures posted on her one and only blog post.

Kaitlyn - Curly haired cutie

Trek - The Adventurist & world-wide traveler

Wylder - A true Warrior

Thank you again for all your love, support and awareness efforts!

"Alone we are rare, but together we are strong!" - Global Genes Project

2 comments:

Shannon LaffoonMarch 2, 2013 at 7:12 AM
We saw you face book page filling with beautiful pictures of Jake-y! He is so loved and so missed. This is a beautiful post Sarah and I am sorry you have to know such loss and heartache too. The day when no other child has to suffer from NPA is the day we will know we all came together for change ... and a cure. I know that day will come. Thinking of of you all always and sending lots of love. PS. that picture of kelly is PRICELESS!! What a doll, I want to snuggle her xoxo
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Cathy JohnsonMarch 2, 2013 at 9:27 AM
What a terrific post, Sarah! We HATE Niemann Pick in our house, too. I know that Shannon is right - there will come a day when no other child has to suffer from NPA, nor their families. Sending much love to all of you!
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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

Friday, March 1, 2013

You Care About Rare!

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