The Joy of Jacob: August 2013

Monday, August 12, 2013

A WonderFULL Life

It's with a heavy heart and tears flowing that I share about our sweet little friend Quinn "Quinny" Linzer, who earned her angel wings this past Friday, August 9th. I was traveling out of state to attend a funeral for my Uncle Arnie, when I received the sad news. A few days earlier I had found out that Quinn's disease (Niemann-Pick type A) had progressed very quickly to the end stages; similar to how Jacob's disease progressed, but it still came as such a shock. Quinn and the entire Linzer family had been weighing on my mind for several days -- foreseeing a future that no parent ever wants to experience and re-experiencing the grief of losing our own child just 8 months ago.

Quinn was just over a year old, and although her beautiful life may have been short, it was filled with wonderFULL amounts of love and amazing experiences. I've been truly inspired by the way Quinn's parents approached a most devastating situation and created a very special bucket list for their little cutie to ensure that she lived the most "wonderFULL" life possible. The Linzer family showed so many of us what it truly means to PERSEVERE.

I don't believe I have ever shared this, but shortly after Kelly was born, the Linzer family sent us a beautiful Willow Tree carving of a young brother and sister. It was the utmost thoughtful gesture at that point in time and one we appreciated so very much! The carving sits in Kelly's room as a visual reminder that Jakey will always be her big brother looking out for her. I know Quinn will always be the sweetest angel looking over her parents and brothers, just as they did so lovingly for her.

All our love and prayers to you Linzer family -- Eileen, Brett, Colin and Reid!! Thank you Quinn for showing us all what it means to love and live fully.

Quinn's blog:
http://www.teamlinzer.com/

I am certain that any supportive words and prayers would be most appreciated.

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, August 12, 2013

A WonderFULL Life

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