November 2021 Newsletter
Message from the Executive Director | Niemann-Pick Awareness Month
Help for the Holidays | In the Spotlight | 2022 Family Conference
Giving Tuesday | Coffee & Catching Up | Newborn Screening Update
Community Update Webinar Series | NNPDF In Action | AmazonSmile
Patients Waiting NPC Video | Fundraising | Family Journey
Clinical Trial Update | Membership | Comprehensive Care Centers
Emergency Hardship Program | Patient AirLift Services
Message from the Executive Director
Dear NNPDF Community,
As we approach the holiday season, this is a perfect time to reflect on the amazing progress our organization and community have made over the past several months. During Niemann-Pick Awareness Month, many families and advocates took the time to share their stories on social media and encourage friends and family to join in the effort to help others learn about Niemann-Pick. We also worked with industry leaders and members of the advocacy community to highlight many important topics related to Niemann-Pick disease, including the impact on patients and families and the critical need to advance research that can lead to a new treatment. We appreciate the efforts of all our board members and community supporters in helping to make an impact during Niemann-Pick Awareness Month.
NNPDF has also been working diligently to expand efforts to raise awareness of Niemann-Pick disease among members of the scientific and medical communities. At the end of October, NNPDF Board Chair Dr. Justin Hopkin and I published an article in Nature Magazine’s Scientific Reports on the impact and burden of acid sphingomyelinase deficiency (ASMD) from a patient and caregiver perspective. This article provides many new insights from patients and families on their experience living with ASMD. In addition to this study, Justin presented information about the impact of Niemann-Pick disease during a special scientific webinar hosted by EveryLife Foundation. We also provided support for the initiation of the AllStripes NPC Sibling Study, a landmark effort to better understand the impact of early diagnosis for patients with NPC. Please see below for additional information and links to these important efforts by NNPDF.
As we head into 2022, we will also be looking at ways to expand our efforts in many critical areas for our community. We will continue our work to stress the importance of patients and families sharing their data and experiences to help shape and guide medical research that can lead to new treatments for Niemann-Pick disease. We will also continue our outreach to regulatory and industry partners to ensure that research continues to reflect the needs and goals of patients and caregivers and that our voices are being heard.
As always, we are here as a partner and ally to all members of the Niemann-Pick community. We extend our sincere appreciation to all of our donors and supporters who are making this work possible.
Happy Holidays to all. We are so thankful for the amazing strength and dedication of our community and our partners and we look forward to continuing our efforts to support research that can lead to a treatment and change the lives of everyone affected by Niemann-Pick disease.
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Niemann-Pick Awareness Month
THANK YOU to our Niemann-Pick community for participating in Niemann-Pick Awareness Month! You shared your stories, promoted our posts, held fundraisers, and continued to spread awareness of Niemann-Pick disease throughout the month of October. Thank you to our donors for supporting our organization. TOGETHER we can make a difference!
Supporting One Another. Supporting Our Community.
Help for the Holidays
Once again, NNPDF is fortunate to share that an anonymous donor has offered to help make the holidays a little brighter for those in need! Our donor family wishes to help ease the burden of Holiday stress while promoting family togetherness and enjoyment by helping with some wish list items for Niemann-Pick families.
NNPDF members residing in the US are eligible to submit an application to be considered for funding for Help for the Holidays. Applications must include a link to your personally created Amazon Wish List (details below).
Application deadline is Sunday, November 28 at 5pm EST
Our donor family has asked the items on your wish list encourage family enjoyment, such as fun family activities, crafts, toys, and games, etc. Wish List items could also be items of urgent need such as winter coats, boots, gloves, etc. Interested families are asked to complete an application which will include a link to a personally created Amazon Wish List. Eligible families will be selected at random and will be notified no later than 12/03/2021 if selected. Wish list items will be shipped to your home via Amazon.
Your Amazon Wish List link must be included in your application. Please create one Amazon Wish list for your immediate family members living in your home. Learn how to create your list.
After you’ve created your Amazon Wish List:
- Click Send List to Others
- Copy your link from the View Only option
- Paste your link in the application where requested.
If you have any questions or need application assistance, please contact Laurie Turner, Family Services Manager at firstname.lastname@example.org or call 920-542-4038.
Boston Children’s Hospital
Clinical Research in the Department of Genetics and Genomics
Tell us about yourself…
My name is Megan McCabe, and I am a Clinical Researcher at Boston Children’s Hospital in the Department of Genetics and Genomics. My research is on the Orphazyme NPC Expanded Access Program, along with some other rare disease clinical trials. I graduated from the University of Notre Dame in May of 2021 with a degree in Neuroscience and Behavior. During my time at Notre Dame, I developed a passion for working with the rare disease community. This included work in both scientific and advocacy areas.
What inspired you to begin working in the field of Niemann-Pick Disease?
My initial inspiration for working in the NPC field began in the fall of my freshman year of college. It was at a Notre Dame football game where I saw a video presented in the stadium during halftime that featured the incredible work Notre Dame does with NPC through the Boler-Parseghian Center for Rare and Neglected Diseases. Dr. Elizabeth Berry-Kravis was mentioned and caught my attention in the video because she was working in my home city Chicago, and also was an alumna of Notre Dame.
I decided to reach out to Dr. Berry-Kravis to see if I could learn more about her work. I ended up meeting her a few months later at Notre Dame’s Rare Disease Day event, and she offered me a position to work with her on a NPC clinical trial that summer. Under her direction, I helped with running clinic visits, prepared data, FDA annual reviews, among other typical clinical coordinator roles. After that summer, Dr. Berry-Kravis connected me with Professor Barb Calhoun, who was involved with Notre Dame’s Boler-Parseghian Center for Rare and Neglected Diseases. I worked with Professor Calhoun during the remainder of my time at Notre Dame. Under Professor Calhoun, I prepared various reports for NORD, created patient clinical summaries and completed other projects related to NPC. I continued to work with Dr. Berry-Kravis for another summer and on all of my breaks home from college. During this time, I also joined the Young Adult Representatives of Rare Disease Legislative Advocates, which is a part of the EveryLife Foundation for Rare Diseases. This is a great outlet for me to focus on advocacy for the NPC community.
How did you come to be involved with NNPDF?
After graduating from Notre Dame, I accepted a position at Boston Children’s Hospital in the Department of Genetics and Genomics. I now coordinate various rare disease clinical trials, one of which is an Expanded Access Program for NPC. It has been wonderful to meet and talk with some of the families on this trial! Aside from attending the NNPDF conference, I was recently connected with NNPDF to discuss the needs of the NPC community, and I look forward to continuing this conversation with them.
What changes have you seen in awareness of NPD in the medical and scientific communities?
In my four years of working with NPC, I have noticed an increase in awareness and communication between various organizations and leading professionals in NPC research. Compared to my work with other diseases, I have never seen a disease community with so much communication and collaboration between patients and their families, advocacy organizations, research organizations, researchers, and clinicians. A great deal of this increased communication can be attributed to organizations such as NNPDF. The patient and family-centered work of the NNPDF is truly unique.
What do you think the future of NPD looks like?
The future of the NPC community is bright, despite the various setbacks that have occurred related to treatment access. In just my four years of working with NPC, I have fortunately noticed a huge increase in awareness of the disease, which seems to be heavily driven by patients and their families. In turn, this awareness has and will continue help research routes and drug access going forward. The passion of especially the patients and families in the NPC community is inspiring. They are truly making a difference for the future of NPC, and I have been so grateful to meet many of these patients and their families.
Save the Date!
Mark your calendars for July 28-31, 2022 for our 30th Annual NNPDF Family Support & Medical Conference! Join us at the Wyndham Grand in sunny Orlando, Florida as we come together to share, learn and celebrate 30 years of community!
Giving Tuesday - 11.30.2021
As Giving Tuesday approaches, please consider a donation to the National Niemann-Pick Disease Foundation. NNPDF supports families facing the challenges of Niemann-Pick disease through support, education, collaboration, and research.
Give at nnpdf.org.
Coffee & Catching Up
Looking for some connection? Don’t miss out on Coffee & Catching Up weekly zoom meetings allowing time for our community members to come together and chat. Watch our upcoming events page for additional dates and times.
NOVEMBER & DECEMBER DATES:
Tuesday, November 30, 2021 at 11:00am EST
Tuesday, December 14, 2021 at 11:00am EST
Tuesday, December 21, 2021 at 11:00am EST
Tuesday, December 28, 2021 at 11:00am EST
If you have any questions please connect with Laurie Turner, Family Services Manager at email@example.com or 920-542-4038.
Newborn Screening Update
Experts Gather for Firefly’s 3rd Annual Newborn Screening Clinical Roundtable
Thirty-five NPC and newborn screening experts from the US, Canada and Europe gathered virtually for Firefly Fund’s 3rd annual NPC Newborn Screening Clinical Roundtable on Friday, November 19. The group met to solidify the role of newborn screening for NPC and on recommendations for intervention following a positive diagnosis at birth.
Observing the meeting were many members from the NPC community and eight industry partners, all with an interest in learning expert opinion on the value of treating earlier in the disease process. Drs. Elizabeth Berry-Kravis of Rush University Medical Center and Marc Patterson of Mayo Clinic chaired the meeting where speakers addressed topics ranging from the current treatment landscape, biomarkers and disease progression to newborn screening research and starting the application to add NPC to the federal government’s recommended list of diseases to screen for at birth. Of particular note, the gathered experts responded to a survey posed at the meeting that found great alignment regarding the meaning of developmental delay in early childhood-onset diseases like NPC. We will be sharing the full results of the survey in the coming months. Stay tuned!
Community Update Webinar Series Recordings
Orphazyme Update on Arimoclomol
In a recent webinar, the Orphazyme team shared an update with the NNPDF community on arimoclomol following their meeting with the FDA. Thank you to Christophe Bourdon, Dan Gallo, JJ McCann, Louise Broge, and Tara Greene for sharing this update. View the recording.
AllStripes NPC Sibling Study Webinar
Want to learn why your family’s participation is important to newborn screening and future NPC research? Review the recording of the AllStripes Sibling Study webinar. Thank you to J.P. DeSouza, Shannon O’Rourke, Pam Andrews, and Dr. Liz Berry-Kravis for sharing how the importance of the NPC sibling study is to early detection of Niemann-Pick disease. View the recording.
Learn more about an easy way for your family to contribute to early NPC diagnosis and intervention.
NNPDF In Action
Justin Hopkin, NNPDF Board Chair and Joslyn Crowe, NNPDF Executive Director co-authored the recently published article in Scientific Reports titled “Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective”. Take a look!
NNPDF community members April Clemenza and Sandy Cowie were recently featured in this AP News story, sharing their diagnostic journeys with ASMD. Read their stories.
Wisconsin Rare Disease Advisory Council
NNPDF recently signed on to a letter in support of the creation of a Rare Disease Advisory Council (RDAC) in the state of Wisconsin. An RDAC gives rare disease community members a unified voice in state government and provides a valuable resource to elected officials on rare disease education and challenges. Currently, only 21 states have RDACs. Read the letter and learn more about this issue.
By shopping AmazonSmile this holiday season and designating National Niemann-Pick Disease Foundation as your favorite charity, you can make an impact for Niemann-Pick families. Shop AmazonSmile and Amazon will donate to the NNPDF. It’s easy! Learn more and sign up. You shop. Amazon gives.
Patients Waiting NPC Video
Have you checked this out? We’re loving this video and music about NPC that premiered during Niemann-Pick Awareness Month! We hope you like as much as we do! Check it out!
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 the following who have recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support.
Kari Dean – Paula Fowler – Cara Gilmore – Amanda Henderson – Chris Milam – JoAnn Williamson – Patricia Haiber McClees – Margaret Owens – Rhonda Brown Kehoe – MaryLou Dahmen
Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!
Thank You to NES Super Stream for their recent fundraiser in honor of David & Kelsey Follett’s niece Hannah (NPC). This fundraiser was done via a Facebook gaming charity livestream. Such a fantastic and creative way to host a fundraiser! We truly appreciate your support.
Sandy Cowie, INPDA President shared her personal story of living with ASMD at our NNPDF Family Support & Medical Conference. We are honored to have Sandy share her Niemann-Pick story with us. Watch Sandy’s journey.
Clinical Trial Update
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 Orphazyme: Orphazyme has provided NNPDF with a regulatory update following their Type A meeting with FDA on arimoclomol in Niemann-Pick disease type C. Read complete update.
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 firstname.lastname@example.org or call 920-542-4038
Comprehensive Care Centers
NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at email@example.com.
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 firstname.lastname@example.org if you have any questions about this program.
Patient AirLift Services
Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.
PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.