It is hard to believe Firefly Fund is coming up on our third anniversary. Ahead of Global Niemann-Pick Disease Type C (NPC) Awareness month in October and a number of other exciting milestones, we would like to share an update about our progress in three key areas we are focused that fill critical unmet needs in the NPC community:

Newborn Screening for NPC

Over the past several months, Firefly’s newborn screening initiative for NPC has been heads down working to support the launch of pilot newborn studies that will study the feasibility of adding NPC to newborn screening lists nationwide. We are VERY excited to report that we look forward to making a historic announcement about one NPC pilot study this fall. This project will mark the first time NPC has ever been screened for at birth. We believe giving families a chance to know their child’s diagnosis sooner will lead to better health outcomes. This important study will give us the opportunity to learn more about how NPC can fit into our existing public health infrastructure. Please stay tuned for more details on this development.

Translational Medical Research

Another important area of work for Firefly Fund is to help dedicated NPC scientists and researchers “translate” and move their laboratory research into the clinic and actual therapies for people with NPC.  Firefly Fund continues to provide critical research dollars to move our Sigma2 receptor project forward. A Sigma2 receptor is protein located in the body’s endoplasmic reticulum. Among other things, it has been found to play a role in neuronal signaling, as well as in cell proliferation and death. In the past year, Firefly Fund has recruited the help of a project manager and several additional scientists from The University of Texas at Austin and the University of Miami to further delve into the NPC – Sigma2 receptor connection. Scientific discussions have defined two approaches expected to augment each other and determine whether modulation of Simga2 receptors will provide vital information about the best compounds and therapeutic approach for treating NPC.

Patient Access Fund

All too often, Firefly gets calls from families across the country because they can’t access the care they need for their child with NPC. Thanks to the generous support of our partners and donors, Firefly Fund’s Patient Access Fund is supporting three different NPC centers of excellence with grants that allow these families to travel to these centers and get the care they need. If you know a family in need, please let us know.

Belle & Abby

Belle, 9, and Abby, 5, are both enjoying being back in school with their friends. Both girls are happy and sweet and growing up so fast.  We still receive treatments every other Friday at Dell Children’s Hospital in Austin. We are grateful our girls still have access to this medicine, though it has yet to be  approved by the FDA.

Belle continues to work hard in physical therapy and uses a NuStep machine at home.  She walks with assistance and has started using a pink gait trainer to gain more independence. Although it’s September, it’s still hot in Texas, and you can find Belle swimming nearly every afternoon in between her five to six weekly therapies. She has also just started an adaptive dance class at the Y.  She loves it.

Abby is involved in ballet and was just cast in the Nutcracker!  Abby also enjoys her weekend gymnastics class and a weekly knitting class.  As you know, we had the chance to begin treatments for Abby before NPC symptoms started to progress and thankfully today she is a bright-eyed, curious and neurotypically developing little girl.  She does participate in a few therapies a week, however we are grateful that she continues to show very few clinical signs of NPC.

 Stay tuned for more updates as we continue shining a light on NPC!

The Andrews Family in DC
Pam, Abby (5), Belle (9), and Chris Andrews representing families with rare diseases on Capitol Hill this past summer for the Children’s Hospital Association’s Family Advocacy Day on behalf of Dell Children’s Medical Center and Ascension.