October 2022 Newsletter
Niemann-Pick Awareness Month | NNPDF In Action | Celebrating #NiemannPickChampions | Global Niemann-Pick Disease Awareness Day | Bringing Holiday Cheer | In the Spotlight | ASMD Accelerate | Pfrieger’s Digest | Clinical Trial Updates | Fundraising | Surveys & Studies | Membership | Emergency Hardship Program
Niemann-Pick Awareness Month
Thank you to every #NiemannPickChampion for helping us continue to raise awareness of Niemann-Pick disease this October! Together, your voices amplify our efforts to change the course of this rare disease. Thank you for supporting NNPDF!
NNPDF In Action
Joslyn Crowe, NNPDF Executive Director and Kari Lato, NNPDF Board of Directors at the 2022 NORD Rare Summit. NNPDF is a member of the Rare & Ready Coalition.
Joslyn Crowe, NNPDF Executive Director with Sanofi’s Eric Racine, Vice President & US Country Head, Public Affairs & Patient Advocacy at Sanofi, and Stephen Meunier, Head of US Public Affairs & Patient Advocacy for Rare Disease, at Sanofi’s Patient Advocacy Council in Washington DC.
Joslyn Crowe with the Sanofi team at NORD Rare Summit viewing their poster on Survival of Patients with Acid Sphingomyelinase Deficiency in the United States: A Retrospective Real-World Study.
Celebrating #NiemannPickChampions during Niemann-Pick Awareness Month
As we celebrate Niemann-Pick Awareness Month this October, the National Niemann-Pick Disease Foundation will use this important observation to highlight and recognize many of the significant accomplishments achieved by members of our community over the last year. We can take this opportunity to recognize so many of our “Niemann-Pick Champions,” including heroic efforts by patients, caregivers, researchers, clinicians, and advocates who have contributed to making a positive difference in many ways. Champions from our community have helped us make historic progress in research and efforts to build awareness. So many have joined in efforts to help others. Our Champions are reaffirming our commitment to fighting for more treatments and services to support ALL people impacted by ALL types of Niemann-Pick disease and are continuing the fight to make access to care possible for everyone living with Niemann Pick disease. Read complete article.
Global Niemann-Pick Disease Awareness Day: The International Fight Continues
By Joslyn Crowe
Each year on the 19th of October the National Niemann-Pick Disease Foundation joins with the global community of patients, parents, caregivers, clinicians, and researchers in recognizing Global Niemann-Pick Disease Awareness Day. This day represents an international effort to build broader awareness of the impact this disease has on patients and families and is an important opportunity for all of us to join forces and raise our voices to highlight the issues affecting our community in countries around the world. It is also a time to reflect on the progress and challenges of the past year and to think critically about how we can all work together to have an even bigger impact in the coming years. As we celebrate the progress made in the past year, we can also reinforce our commitment to ensuring that ALL people impacted by ALL types of Niemann-Pick in ALL parts of the world have access to treatments, services and programs that can make a positive impact on their lives. Read complete article.
Bringing Holiday Cheer
NNPDF is fortunate to share that an anonymous donor has offered to help make the holidays a little brighter for Niemann-Pick Families! Our donor family wishes to help ease the burden of Holiday stress while promoting family togetherness and enjoyment by helping to bring some cheer to your family by providing wish list items. All NNPDF members residing in the US are eligible to submit an application to be considered for funding for the Bringing Holiday Cheer program. Application deadline is Friday, November 18th at 5pm ET. Click here for complete details.
Travis Obermeyer
Dad to Austin, ASMD
NNPDF Board of Directors
Tell us a bit about yourself.
Our family lives in the beautiful mountains of the Blue Ridge in North Carolina. We enjoy walking at the park, watching sports and spending time together on the Blue Ridge Parkway. Our vacation of choice is camping, as we love the solitude of being in God’s nature.
When did you receive Austin’s diagnosis and what led to this?
Austin’s pediatrician first noticed there was something off during his 15-month checkup when his liver was enlarged. Susan and I took Austin to the hospital that night for a series of tests with initial thought of Leukemia. All these tests were negative. After 6 months of further blood tests, ultrasounds, liver biopsy, enzyme tests etc., it was initially determined that he had Gaucher disease. However, upon further examination it was later confirmed to be ASMD (type B).
How did you learn about NNPDF?
We first learned about NNPDF through our geneticist at the time. Our family was lucky that she had trained under Dr. Wasserstein in NY and was familiar with ASMD in many facets.
What led you to get involved with NNPDF as a family and recently, as a Board Member?
I believe that as a parent you are the best advocate for your family and children’s well-being. Naturally that progresses to getting involved as much as possible and help any way to find new treatments/cures for the disease. I am a parent first and I want to fight and have a voice for Austin and other boys/girls and men/women that cannot fight for themselves.
How has being an NNPDF member supported your family?
NNPDF has helped our family most by creating connections. Connections with pertinent and accurate information. Connections with providers of treatment. Connections with other families going through similar circumstances.
What advice would you share with newly diagnosed families?
Dive in and learn about the disease as much as possible. Ask questions, no question is a bad question, we have all been in the same situation you are in. Again, as I said before, as a family member, friend or diagnosed individual you are your own best advocate. At first you may be overwhelmed with the plethora of information. Focus on what is important to you and reach out to NNPDF and connect with other families.
What are your hopes for the future for your family and for the Niemann-Pick community?
Ultimately, I am hopeful that NNPDF will continue to be instrumental in fostering the discovery of new treatments/cures for ASMD and NPC.
Research reminder from Wylder Nation and NNPDF
Wylder Nation and NNPDF are still enrolling for ASMD Accelerate! Every child’s story can make a difference for the future of ASMD care.
This study is an opportunity to contribute to ASMD research from home. Signing up with PicnicHealth takes 5 – 10 minutes – after that PicnicHealth’s team collects your child’s longitudinal medical records on your behalf, securely upload them to your PicnicHealth account, and then de-identifies these records for ASMD researchers.
Visit picnichealth.com/asmd-wylder-nation or email asmdstudy@picnichealth.com with any questions.
Pfrieger's Digest
NNPDF is pleased to share the latest edition of Pfrieger’s Digest, written by Frank Pfrieger, PhD of Niemann-Pick Selbsthiifegruppe (Germany). This publication provides a summary of research advances based on selected peer-reviewed publications in scientific journals. Read the latest issue.
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Update from Cyclo Therapeutics: Cyclo Therapeutics announces the publication of Phase 1 data for Trappsol® Cyclo™ for the treatment of Niemann-Pick Disease type C1. Read complete update.
Update from IntraBio: IntraBio Ltd. is pleased to confirm the Phase III pivotal trial with N-acetyl-L-leucine (IB1001-301) is active and recruiting in the United States at the Mayo Clinic, MN. Read the complete announcement.
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!
THANK YOU to Krissy Florkiewicz, KayLa Miller, Sherri Sykes Lewis, and Kevin Xie who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!
Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!
Surveys, Studies, & Market Research
Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Current surveys and studies are listed below. Contact Laurie Turner at familyservices@nnpdf.org for any questions.
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038
Emergency Hardship Program
The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.
