September 2022 Newsletter

Message from the Executive Director

Who’s your #NiemannPickChampion?

October is Niemann-Pick Awareness Month! These next few weeks are an especially important time to tell your family stories on your experiences with Niemann-Pick Disease. Show everyone who’s your #NiemannPickChampion! There is no better time to increase awareness of Niemann-Pick Disease and to educate friends, policy makers, clinicians, and others about this rare disease.

The Niemann-Pick community is filled with champions – champions impacted by this disease everyday, fighting for approved treatments, working towards a cure, and champions keeping the memories of those who have passed.

Over the course of the month, we will offer a range of activities to highlight the community’s #NiemannPickChampion(s) and to promote Niemann-Pick awareness through educational information and social media posts you can share, virtual forums to connect with NNDPF staff and Board members for community conversations, awareness events with our pharmaceutical partners, and of course, we will join with our INPDA partners on October 19th for Global Niemann-Pick Awareness day.

Receiving a rare disease diagnosis can be a devastating and emotional experience. NNPDF is dedicated to an enduring patient support community that embodies strength, hope and empathy for those affected by all Niemann-Pick disease types. We work tirelessly to support and advocate for access to treatments and supports that can make a positive difference in helping affected individuals and caregivers manage a wide range of emotional, financial, and medical challenges. Through our work, families know they are not alone and that an entire community of caring people is standing alongside them in their journey.

For over 30 years, NNPDF has been a leader in advocating for the needs of all members of the Niemann-Pick community, in support of every #NiemannPickChampion, by connecting our voice with leaders in research, industry, and government at every level who can help make a significant difference in the lives of those impacted by Niemann-Pick disease. The battle continues, but we will never give up the fight.

Warm Regards,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Niemann-Pick Awareness Month

October is Niemann-Pick Awareness Month! Support One Another and Support Your Community by raising awareness and educating others about Niemann-Pick Disease in your community. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey and help us deliver hope!

This month we want you to share your #NiemannPickChampion! Learn how to use our template to make and share your Niemann-Pick Champion and make your own social profile frame to show your support of your Niemann-Pick community.

Visit Niemann-Pick Awareness Month webpage to learn more about how you can be an advocate for those affected by Niemann-Pick disease by spreading awareness in your own community.

Community Connection Opportunities

Connect with NNPDF Families, Board of Directors, and Family Services Manager, Laurie Turner during Niemann-Pick Awareness Month. NNPDF will be hosting several options for gathering and connecting virtually starting on October 5th!

Please join us for Coffee and Catching Up and Community Connections: Catching Up virtual gatherings. We look forward to sharing time together – to take a break and reconnect with other Niemann-Pick community members. Be sure to register in advance.

Family Support & Medical Conference Recordings & Photos

THANK YOU to all that joined us in-person and virtually for our 30th Annual Family Support & Medical Conference! We were so happy to see all your smiling faces. It was a wonderful time of sharing, supporting and learning.

For those that were unable to join the conference or if you’d like a review, the 2022 family conference recordings and photos are now available.

Our Family Support & Medical Conference was a success due to many supporters: from our sponsors and speakers, to our board, staff and volunteers. We THANK YOU for all that you have done to support our family conference.

Cyclo Therapeutics Patient Newsletter

Featuring the Powerful Story of Dee Reynolds

Cyclo Therapeutics’ recently published their patient newsletter featuring Dee and Dan Reynolds. Dee was diagnosed with NPC when she was in her 40s after many years of unexplained symptoms. She and her husband Dan are very well-known advocates – and friends – in the Niemann-Pick community. Here they answer some questions about receiving a diagnosis of NPC later in life and give some advice to families who may have similar journeys. Thank you for sharing your story.

Orphanet Publication Alert!

Our peer-reviewed journal article titled “Health insurance literacy and health access barriers in Niemann-Pick disease: the patient and caregiver voice” was recently published in Orphanet. NNPDF were co-authors on this publication along with Dr. George Diaz based on the large research study we completed previously. Perfect timing in the same week as Xenpozyme’s FDA approval for the treatment of ASMD!

This publication will be a useful resource for payers and decision makers as we look to ensure availability, access, and reimbursement for Xenpozyme now, as well as in the future for our NPC therapies.

ASMD Accelerate is Still Enrolling!

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.

LinkedIn Pulse: US Approval of Xenpozyme

NNPDF Celebrates Monumental Milestone with the First U.S. Approval for ASMD: The National Niemann-Pick Disease Foundation joins with patients and families in the U.S. and the entire global Niemann-Pick community in celebrating this historic advance in research: the first-ever U.S. approval of a treatment for ASMD! For more than 20 years, NNPDF has worked to support patients and families impacted by ASMD (acid sphingomyelinase deficiency) by raising awareness and advocating for research that can lead to life-changing therapies. Read complete article.

CheckRare: FDA Approves Olipudase Alfa

FDA Approves Olipudase Alfa To Treat Acid Sphingomyelinase Deficiency in Both Children and Adults: The U.S. Food and Drug Administration (FDA) has approved olipudase alfa for intravenous infusion in pediatric and adult patients with Acid Sphingomyelinase Deficiency (ASMD).

ASMD is an autosomal recessive genetic disorder caused by mutations in the SMPD1 gene. That gene encodes for acid sphingomyelinase (ASM), an enzyme that metabolizes sphingomyelin. ASMD is also knows as Niemann-Pick disease types A, A/B, and B. Olipudasae alfa is an enzyme replacement therapy designed to replace the deficient or defective ASM. Read complete article.

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!

Bowie Baysox Benefit

THANK YOU to the friends and family of Mark and Darrile Papier who recently hosted their 16th Annual Bowie Baysox Benefit in memory of their son Dillon. The Baysox Benefit was a success with lots of raffle baskets, jewelry, gift certificates, food, and very exciting game finale with the Baysox losing until the last batter blasted a walk off homerun scoring 2 to win the game! A special guest in attendance – Liam Ferguson – was surprised with throwing the first pitch before Mark Papier.

THANK YOU to Stacy Stemmerman, Lane Hemsley, Stacy Tillotta, Vera Stricklin, Natalie Johnson, Kevin Nettesheim and Larissa Ross 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!

Social Services Resource

The journey with those affected by Niemann-Pick disease can be long and complex with caregivers wearing multiple hats. Little Hercules has provided a tool to search for national, state, regional, private, and public programs that can help you with whatever you need. Search for free or reduced cost services like medical care, co-pay assistance, food, utility assistance, transportation, disability programs, and more. Start your search by entering your zip code. Visit littlehercules.auntbertha.com for more information.

Contact Laurie Turner at familyservices@nnpdf.org for any questions.

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.