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.

Tuesday, February 28, 2017


It's been far too long since my last post and to be honest, I still teeter back and forth on whether or not to maintain this blog. On days like today ❤❣ Rare Disease Day ❣❤, I am reminded of the importance of sharing Jacob's story and how many personal connections have been made, how much support has been garnered, as well as how many lifelong friendships have been developed along the way. There is still important research to be done so that treatments and cures for lysosomal storage diseases, like Niemann-Pick disease can be developed. 

The purpose of Rare Disease Day (last day of February), is to raise awareness for rare disease & the impact on the lives of patients and families. As a parent of a child who suffered greatly from a rare genetic disease, Niemann-Pick (also referred to as Acid Sphingomyelinase Deficiency or ASMD), I experienced first-hand the devastation of caring for my terminally ill son, while being told by numerous specialists that there were absolutely no treatment options and no cure for my child's disease. NO parent should ever be told to just go home and love their child...there has to be more we can offer! Our children deserve more:
  • Focus on research and development of treatment options
  • Better access to specialists and in-home therapies
  • Less hoops to jump through when it comes to insurance coverage
  • Improved genetic testing 
  • And gosh darn it, families at least deserve better access to child-focused palliative care resources when the above mentioned 'health care' system fails them. 
I continue to be an advocate for raising awareness, specifically Niemann-Pick Disease, and try my best to remain connected to current research efforts. In the past few years, I have seen a definite improvement in research collaboration, as well as the implementation of pediatric clinical trials for enzyme replacement therapy in children with ASMD. This brings such great hope to families affected by this devastating disease. That said, I want to share a few things that YOU can do to help make a positive impact on those battling rare diseases.

Donations fund important research which lead to the development of treatment options and cures. These are the charitable organizations that we support towards finding a cure for Niemann-Pick Disease/ASMD and are the nearest and dearest to our hearts.

Shortly after Jacob earned his angel wings, I became more selective as to where our charitable donations were made and directed them to charities that focused on Niemann-Pick research/support. Instead of donating all of our used items to Goodwill or other places, I began to sell items on local 'treasure' or 'swap' sites and collected money in a large mason jar, which we donate at the end of each year. I call this our JOY Jar. Consider starting your own jar to donate to a cause near a dear to your heart. Hint! Hint! The links provided above could always use a donation. ❣

πŸ’™   JOY Jar   πŸ’™
Raise Awareness & Support Advocacy

If you don't already know who they are, get familiar with your state and local government officials. Good health is one of -- if not, the greatest assets we possess, and access to quality and affordable health care is worth fighting for. Use your voice and be heard when it comes to raising awareness among policy makers and public authorities, as it pertains to rare disease research and health care in general. Alone we are rare, together we are strong.
πŸ’™My rare angel, Jacob Lee BrooksπŸ’™