We originally created this blog to keep family and friends updated about our little man Jacob, who was diagnosed in the summer of 2011 with a rare, life-limiting genetic disease called Niemann-Pick (type A/B). Jacob earned his angel wings on November 15, 2012, but remains our daily inspiration and constant reminder that we must live in the moment and fill each day with JOY, LAUGHTER and an abundance of LOVE.

Monday, November 21, 2011

Little man goes to the big city (New York)

Jacob did fantastic on our trip to NYC! This was a significant trip for our family with lots of FIRSTS for our favorite little one-year old:

  • 1st ride on a plane, in a taxi and on the Subway

    • 1st taste of New York pizza
    • 1st glimpse at the Statue of Liberty and 9/11 Memorial

    • 1st trip to FAO Schwarz toy store, including a chance to play on the Big Piano!

    • 1st opportunity to see Dr. Wasserstein, a leading expert in Niemann-Pick Disease

    Of course, our trip to New York wasn’t all fun…

    Given Jake’s early onset and development delays, we were told by the genetic specialist that Jake’s symptoms appear to be presenting themselves in a more aggressive form of the disease – not the most severe, but also not the mild version of Neimann-Pick. We were also told that young children with Niemann-Pick often don’t progress developmentally beyond one-year of age, but were not given real limitations on what Jacob will be able to achieve. The most positive form of feedback that we received came from the neurologist who told us that Jake is more advanced (skill wise) than most children his age with this disease. Both physicians encouraged us to continue working on furthering Jacob’s development and to keep up with the good feeding regime.

    It’s hard to put into words the feeling that you get when hearing this type of information, so for now I will simply reiterate that Josh and I have every intention of doing everything within our means to provide Jacob with the best LIFE possible.

    Two biggest take-a-ways:

    1.) Nutrition – it will be important for us to continue to feed Jacob multiple small meals a day to ensure adequate calorie intake because his enlarged liver and spleen demand a lot of energy (calories), while at the same time being faced with squished space in his stomach. As his disease progresses it is likely that he may need a gastrostomy tube (G-tube) to provide an alternative way of feeding, but we will cross that bridge if/when we come to it. For now, Jacob is very interested in trying new foods and continuing to do well with self-feeding.  

    2.) Keeping him as healthy as possible – Jake’s disease puts him at risk for developing respiratory issues, so it will be very important for us to keep him as healthy as possible and avoid exposing him to anyone who is sick (especially with coughs/colds). This means no snuggles if you have the sniffles – sorry!

    Our trip to New York was accompanied by a mixture of emotions, but overall, we are very glad that we took the next step and enrolled Jacob in the natural history study of Niemann-Pick Disease. It breaks our hearts to hear about the progressive decline in health that our precious boy will inevitably face and to know that there is no cure (yet) for this horrible, horrible disease. Even though we knew this trip would not change the prognosis of Jacob’s disease, we are reassured in knowing that we’re doing everything possible to provide Jacob with the care and support that he needs. Every bit of information brings us one step further… in better understanding the disease, bringing awareness and hopefully finding a cure.

    Special thanks to my parents for making the trip with us ~ it was nice to have the support and two extra pairs of hands. We also greatly appreciate all the calls, texts and e-mails that we received before/during our trip. Your well-wishes and prayers truly make a difference!