The Joy of Jacob: November 2013

Friday, November 15, 2013

~ Angelversary ~

One year -- 365 days -- 8,765 hours -- 525,948 minutes -- 31,556,926 seconds.

Any way you break it down; even one second, is one second too long to be without you. November 15th will always be a day of remembrance for our family, as we remember the last time we held you in our arms and witnessed the last breath you took. It was the end point of your suffering and our beautiful life with you here on earth.

I can't imagine that there is a pain greater than losing your child. We miss you every. single. second. How is it that our hearts can feel so broken, yet so filled by the love that we have for you? You taught us to love so fully and for that we are grateful, but it doesn't take away from the fact that our lives will never be complete without you in it. Every family picture is incomplete without you in it. Every family event and holiday just doesn't feel right without you here. Our lives are forever changed.

We've experienced a year where joy and pain collide - a year of heartache, grief counseling, soul searching, and spiritual awakening, met with the pure happiness that we have experienced with your baby sister, Kelly. We are constantly reminded of how special you are and how blessed we are to have had you in our lives for the short time we did.

Your room still sits with all of your things, including your favorite stuffed animals and your SpongeBob bed sheets. Sometimes I let Kelly play around in your room. Kelly loves to touch your toys, but she especially likes looking at pictures of you. One of her favorite items is a picture book filled with pictures of you. She will sit and look at the pages, while chattering away with her baby babble and the occasional "Dada," when she sees pictures with your daddy in them. Kelly's entire face lights up when we talk about you and show her your pictures. I feel there is a connection that you and Kelly share, which is sometimes beyond my comprehension. It is often my reminder that your spirit lives on in all of us.

"When God gives you a child you teach,

when he gives you an angel, you learn."

I adore this picture of your daddy staring so lovingly at you

The last smile I was ever able to catch on camera

Missing you so much Jakey boy. xoxo

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, November 15, 2013

~ Angelversary ~

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