The Joy of Jacob: Sweet Quinn

Tuesday, February 5, 2013

Sweet Quinn

I'd like to introduce you to one of our most special little friends, miss Quinn Linzer.

Isn't she a cutie-pa-tootie!?!

Like Jacob, Quinn also has Niemann-Pick Disease type A and is one of only three children in the United States currently living with the disease. Although we have never met, we are closely tied to Quinn and her family because of this horrid disease. The only good thing to come from Niemann-Pick is the unbelievable amount of love and support that each of these families offers one another, a true extension of our own families.

We were connected with the Linzer family late last summer and have been following Quinn's blog since day one -- Linzer Party of Five. Quinn's parents started an amazing bucket list of 'to do's' for their little cutie to ensure that she lives a "wonderFULL" life -- read about Quinn's list. It is such an amazing idea! In fact, our own little man Jacob had a role in helping Quinn accomplish one of her 'to do's' just this last weekend...a trip to FAO Schwarz, which is something we did with Jacob when we traveled to New York to visit the specialist at Mount Sinai. I had tears of JOY reading that blog over the weekend. Josh and I were so incredibly touched to hear what great memories the Linzer family made that day, knowing how special our memories are with Jakey. It was also so good to hear that Quinn was doing so well after her recent G-tube surgery. Well, things took a bit of a turn this week and Quinn is in need of some good thoughts and prayers as she's currently in the hospital after experiencing some serious complications.

This little sweetie has a lot more wonderFULL things to accomplish on her 'list' and the Linzer family deserves a lot more time to love, snuggle, and enjoy their precious daughter. Please send good thoughts, well-wishes and prayers to miss Quinn and the Linzer family. Thank you!!!!

2 comments:

Cathy JohnsonFebruary 6, 2013 at 6:20 AM
Sweet Sarah - thank you so much for posting about Quinn. I'm sure this will mean more than I can even imagine to Eileen and Brett. I remain awed by the fierce devotion and love that the NP families have for one another. I know that love and support are invaluable no matter where they come from, but the bond shared by your families is a precious blessing. Like you, I am sending good thoughts to Quinn and her family.
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MeaganFebruary 19, 2013 at 1:41 PM
Praying! I might hope on over to their blog and let them know too.
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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

Tuesday, February 5, 2013

Sweet Quinn

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