November 2021 Newsletter

Jill Beirl

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.

Warm Wishes,


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.

PLEASE NOTE:

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:

  1. Click Send List to Others
  2. Copy your link from the View Only option
  3. 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 familyservices@nnpdf.org or call 920-542-4038.

Megan McCabe

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.
#givingtuesday2021

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
Register here!

If you have any questions please connect with Laurie Turner, Family Services Manager at lturner@nnpdf.org 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 t
he 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

Scientific Reports
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!

AP News
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.

EveryLife Foundation 13th Annual Rare Disease Scientific Workshop
Justin Hopkin, NNPDF Board Chair speaks on Niemann-Pick Disease Type C Challenges in the Therapeutic Development at EveryLife Foundation’s 13th Annual Rare Disease Scientific Workshop.

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.

Shop AmazonSmile

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!

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 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.

Family Journey

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.

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

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 lturner@nnpdf.org.

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.

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.

       

Supporting one another. Supporting our community.

All States Must Recognize That Rare Diseases ARE Different

Jill Beirl

In the weeks ahead, Wisconsin will consider legislation to establish a “rare disease advisory council” in the state.  With this important action, Wisconsin could become the 22nd state in the U.S. to acknowledge that patients and families affected by rare diseases have many unique needs and deserve support and services that are designed to meet those needs. 

Unlike diseases such as cancer or heart disease that affect millions, many rare diseases affect only tens of thousands of people.  Some ultra-rare diseases affect fewer than 2,000 people.  But when we refer to “rare diseases,” we are talking about more than 8,000 different illnesses that collectively affect about one out of every ten people. More than 90% of rare diseases have no treatments available, as is the case for Niemann-Pick disease.  When government and healthcare systems use a “cookie cutter” approach in addressing health issue, these efforts often do not reflect the very special needs of patients and families affected by rare diseases. 

To examine the needs of rare disease individuals in the same manner as diseases that impact larger populations, like oncology or diabetes, is a failure to rare disease families and results in challenges from clinical trial design to FDA approvals and beyond.  By establishing rare disease advisory councils, Wisconsin and all states in the U.S. can help to ensure that healthcare programs and services will be designed to effectively meet the needs of millions of individuals and families. 

In every state, a dedicated council of medical and healthcare experts can give rare disease patients a unified voice in state government, helping to shape policies and use healthcare resources more effectively and efficiently.  Councils can also provide essential input to elected officials and other state leaders on issues including rare disease research, education, diagnosis, and treatment.  In most states, councils prepare reports and provide recommendations that can help to guide healthcare decisions made by governors, legislatures and other relevant agencies.

For patient advocacy and service organizations like the National Niemann-Pick Disease Foundation, rare disease advisory councils can play a critical role in supporting our work and helping us advance our missions.  Councils are a platform that can bring together a diverse group of stakeholders working together to identify and solve pressing challenges.  They can also provide feedback, identify innovative solutions and access resources that can ease the burden on state healthcare systems.

Many leading rare disease organizations including NNPDF, the National Organization for Rare Diseases and others have expressed their support for establishment of a rare disease advisory council in Wisconsin.  We strongly urge leaders in the state to demonstrate their commitment to people affected by rare diseases by establishing a council, and we encourage all remaining states to take this important step. 

Both individually and collectively, rare and ultra-rare diseases ARE different.  Rare disease advisory councils can help to make sure that healthcare decisions will bring patients and families more of the specialized services, support, and access to treatments and care that they need.

Supporting one another. Supporting our community.

Awareness, innovation shape future for those living with rare disease, ASMD

Jill Beirl

PAID FOR BY SANOFI GENZYME

Awareness, innovation shape future for those living with rare disease, ASMD

Photo courtesy of April and Chris.

When April talks about going on dates with her husband, Chris, or watching fireflies with their 6-year-old son, Nicholas, she radiates in such a way that all but betrays the battle happening inside her body.  

But as the Texas mom balances family life, she also manages a rare, progressive, and potentially life-threatening genetic disease known to cause health consequences — including an enlarged spleen or liver, difficulty breathing, lung infections and unusual bruising or bleeding, among a multitude of other disease manifestations. 

Historically known as Niemann-Pick disease A and B, acid sphingomyelinase deficiency (ASMD for short) affects only 1 in 250,000 individuals. And because it is so rare, ASMD can be difficult to diagnose and has no available treatments. Though with scientific innovation and greater awareness, a path to a quicker diagnosis may be possible. 

 

Invisible illness

Diagnosed with ASMD at age 2, April remembers how going back and forth to see doctors as a child was something her brothers and sister didn’t have to do.

Pictured: Chris, April and their son, Nicholas. Photo courtesy of April and Chris

 “I remember asking my dad about it,” she said. “And my dad said, ‘You’re our special kiddo and we have to take special care of you. ”The disease didn’t prevent her from having a happy childhood, she said, even as it did begin to affect her body, internally. April remembers swimming and playing tennis as a child, but not being allowed to play contact sports or roughhouse with her siblings. Then, at 11, she stopped growing and her abdomen became severely enlarged, altering her body shape – a common occurrence among those living with the disease.

“So, the kids in elementary school weren’t too nice,” she said. Still, she persevered. She knew some dreams – like growing up to fly an Army attack helicopter – might have to be readjusted. But others might still be within reach.

When April was 14, she saw her first specialist who was an expert in ASMD, and remembers having two burning questions:

“My first question was, ‘How long can I live?’ Then, before the doctor could even finish her answer, I asked, ‘Can I have children?’ Growing up I had always wanted to be a mom someday.”

Many years, procedures and doctor visits later, and after marrying Chris, an active-duty member of the U.S. Army, April would get her wish.

“Nicholas was our miracle baby,” April said. “And Chris is my biggest supporter. He’s always there. He is my rock.”

 

Diagnostic odyssey

For many people, having a rare disease like ASMD often means a painstaking journey before eventually finding the correct diagnosis. Meanwhile, patients with ASMD feel the effects of the disease progression, which can range from cirrhosis of the liver to crippling fatigue.

Dr. Melissa Wasserstein, a board-certified biochemical geneticist and pediatrician, has been working with ASMD patients for decades. Now chief of the division of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore and professor of Pediatrics and Genetics at the Albert Einstein College of Medicine in the Bronx, she has come to know many patients and their families over the years – each a reminder of the toll this “diagnostic odyssey” can take.

“There often are months if not years that go on where somebody’s in limbo-land trying to figure out what’s happening. It’s often a very anxiety provoking and expensive time,” she said.

 “I’ve certainly had patients over the years who have come to me diagnosed with something else, only to discover that they actually had ASMD. For example, (telling a patient) ‘You actually don’t have Disease X that you thought you had your whole life; we now know it’s ASMD.’ … It’s challenging to make that diagnosis unless you are familiar with ASMD – and many people aren’t familiar with it, even in the health care community.”

Photo courtesy of Sandy Cowie.

That’s something that Wasserstein and organizations such as the International Niemann-Pick Disease Alliance are trying to change.

Sandy Cowie, an occupational therapist who serves as INPDA president, was also diagnosed with ASMD when she was 2 years old. In her role, she helps the INPDA in achieving its mission to facilitate progress and increase awareness in Niemann Pick Disease by amplifying the voice of the ASMD community in areas that have cross-border impact.

Working to raise awareness of ASMD (especially with clinicians who may be the first point of contact on the diagnostic journey) to help facilitate earlier diagnosis is one way the organization serves patients.

“Because symptoms of ASMD can be very variable and can present at varying times … it can make it very challenging to get an accurate diagnosis,” she said. “They may have been bounced from a family physician to a hematologist, to a liver specialist, to an oncologist, depending on what their symptoms were when they first presented. And sometimes, especially for kids, they’re just told, ‘Well, they’ll grow out of it.’ … Being able to reduce the timeline for diagnosis would be a huge benefit for people.

“We definitely know that early diagnosis leads to earlier intervention and better outcomes,” she said.

Wasserstein agrees.

“We don’t want people suffering and we don’t want the disease to progress,” she said. “The goal long-term is to have a safe and effective treatment so the disease progression does not become irreversible.”

 

A future of hope

With recent advances in medical science, change may be on the horizon.

A broad network of people – scientists, researchers, clinicians, advocates and those living with ASMD – have helped to reach this point and Wasserstein applauds them.

“It has been a lot of work,” she said, “but it has also been a major commitment by the ASMD community. They have been so incredibly brave and incredibly generous with their time.”

One area that is helping shape the future of the disease are advancements in newborn screening. Wasserstein and Cowie agree that this could drastically shorten the diagnostic time for people impacted by ASMD.

Currently, every baby born in the U.S. has blood samples sent to their state’s newborn screening laboratory, usually the day after they’re born. Wasserstein and others are piloting the ability for newborns to be screened for additional disorders, including ASMD.

“If we can pick up babies before they have symptoms, they can avoid that diagnostic odyssey,” she said.

Similarly, she is also working on expanded carrier screening that would let would-be parents know whether they might carry the ASMD gene, which could be passed along to their children.

“(Parents) can be really helpful at minimizing that diagnostic odyssey in the future,” she said.

As innovations in science and technology advance, so do ways for the ASMD community to connect and support each other.

In 2013, an EU grant helped to initiate a project establishing the International Niemann-Pick Disease Registry. This patient-owned disease-specific clinical registry is useful in building a robust understanding of ASMD by facilitating ongoing progress in research, diagnosis, clinical management and potential avenues for future development, Cowie said.

“We’re very much trying to make it so that people aren’t feeling like they’re the only person battling on their own,” she said.

April said organizations such as the INPDA and the national and local groups it supports have made a massive impact in her life.

“Just having them there to bring you up and support you is a huge thing,” she said. “There’s a group of us out there who help each other with everything.”

Her advice to others living with ASMD or another rare disease?

“Stay positive; keep your chin up,” she said. “You are not alone.”

Cowie shares her sentiment.

“Persevere and keep hope,” she said. “I know that it is a rough road. The road is changing. It has changed a ton in the last 20 years. … We still have a long way to go, but we’re making huge progress.”

MAT-GLB-2103764-v1.0-10/2021

Supporting one another. Supporting our community.

September – October 2021 News

Jill Beirl

Message from the Executive Director

Dear NNPDF Community,

This month, October, is Niemann-Pick Awareness month. One of the most important times of year for us, as a community, to join our voices together to remember those we have lost and unite for a hopeful future for our loved one. As we continue to fight for approved treatments, we have messaging in our social media posts and on our website that can be shared with your friends and family, with your schools, and with influentials in your area. Please check our calendar of event for programming geared to all families, at all stages of the Niemann-Pick journey, throughout the month including educational materials, advocacy actions, community connections “chats”, webinars, a virtual kid’s dance party, and special Facebook frames commemorating Niemann-Pick Awareness month.

Of course, none of our work is possible with the support of our donors. Thank you for helping us best serve Niemann-Pick families across the U.S., and allowing us to provide vital resources that support families and ensure our families that they are not alone in this journey. To support our important work and make an impact, please donate here.

Warm Wishes,


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. Events will be hosted throughout the month – details will be shared when they become available. 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!

EVENTS:

  • Coffee & Catching Up – Tuesdays at 11:00am EST
  • A fun and informative evening for the entire family:
    Community Update Webinar Series: Cyclo Therapeutics &
    A Spooky Halloween Music and Comedy Concert for Kids hosted by Cyclo Therapeutics

    Thursday, October 14, 2021
    Kids event starting at 7:00pm EST – Join Here  Zoom Meeting ID: 875 0450 1568
    Webinar starting at 7:05pm EST – Webinar Registration
  • AllStripes NPC Siblings Study WebinarThursday, October 21, 2021 at 7:30pm EST. Register Here
  • Community Connections
    Wednesday, October 13th at 1:00pm EST  Register here
    Thursday, October 28th at 1:00pm EST  Register here

GET INVOLVED!

  • USE the Niemann-Pick Awareness Month Facebook profile frame:
    1. Click the camera on your Facebook profile picture.
    2. Select the “Add Frame” option.
    3. Type NNPDF in the “Choose a Frame” search window.
    4. Select the “NNPDF Niemann-Pick Awareness Month” frame. 
  • SHARE Niemann-Pick awareness posts and videos on your social networks.
  • SUPPORT NNPDF important advocacy, family services, and research programs through donations.
  • SHOP AmazonSmile, designating National Niemann-Pick Disease Foundation as your favorite charity.
  • HOST a NNPDF Facebook fundraiser! It’s easy –  get started here!
  • SHARE our NNPDF Awareness Video!
  • THANK your Niemann-Pick health care workers! Let us know who they are and NNPDF will send them a special Thank You card.
  • DOWNLOAD, print, and share our NNPDF information page with family and friends.
Supporting One Another. Supporting Our Community.

NPC Community Listening Session Summary Report

On August 3rd, another NPC Community Listening Session was held with the FDA. Thank you to our clinician and family speakers who participated. The Summary Report is now available and can be found on our website. We continue our outreach on these urgent topics with the FDA to ensure the patient and Niemann Pick community voice is heard. Read summary report.

NPC Virtual Hill Day

An NPC virtual Capitol Hill Briefing is being organized by the NPC moms in coordination with Rep. Lesko of Arizona and Rep. Sewell of Alabama. The event will take place on October 21st from 11am – 12pm EDT.  The goal of the briefing is to help more Members of Congress better understand NPC, learn about the recent and ongoing challenges we face as a rare disease, and be willing to help.

All families will be able to attend virtually, registration details will follow.

Please invite your member of Congress by contacting us at nnpdf@nnpdf.org.

Liz Heinze appointed as NNPDF Secretary

Congratulations to Liz Heinze on her appointment as NNPDF Secretary! Liz’s contributions to the Niemann-Pick community have been invaluable for families and we are proud to have her on our board.

NNPDF Board Members are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization. They volunteer selflessly to serve in these vitally important roles, giving their time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK each and every one of you for all you do.

Meet Liz Heinze NNPDF Board Secretary. We are grateful to have you on our team!

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!

Health Care Worker Thank You

Health care workers play an important role in the lives of our Niemann-Pick families and are valued throughout our community. NNPDF is offering to send out Thank You cards to our Niemann-Pick health care workers to let them know they are very important to us. To participate, send us your health care workers information and we will send them a Thank You card on behalf of our Niemann-Pick community.

Family Journey

During our NNPDF Family Support & Medical Conference we were honored to have Niemann-Pick community members share their Niemann-Pick stories with us.

Today we feature Barbara Lazarus as she shares her family story in raising 2 sons, Daniel and David, with NPC. Thank you, Barbara for sharing your heartfelt and personal story with us. Watch Barbara’s family journey.

Medicaid Waivers

In this presentation, Amy Aikins, Director of Government and Social Programs at the Little Hercules Foundation provides an overview of waiver programs, why you might be interested in enrolling your child, how to find out what waiver programs may be available, and tips for those who are already enrolled in a waiver program.

Amy has worked for several years in case management as both line and supervising staff, in program management, and in waiver administration. Thank you, Amy, for sharing this important information with our community.

Watch the recording of Amy’s NNPDF Family Support & Medical Conference presentation.

Circle of Care Guidebook

Being a Caregiver for a child with a rare disease can be both enormously gratifying and extremely challenging. For most, the experience is life-altering, and for some, all-consuming. The Circle of Care Guidebook by National Alliance for Caregiving and Global Genes is intended to help Caregivers navigate through the varied experiences and challenges of rare and serious medical conditions, guided by the insights, achievements, and learnings of other caregivers and experts, including NNPDF Family Services Manager, Laurie Turner.

The Circle of Care Guidebook will help Caregivers more easily navigate through the needs and challenges of caring for children with rare and serious illnesses and find the right next steps to take on their behalf.

Research Study & Survey Opportunities

AllStripes NPC Sibling Survey

AllStripes and NPC foundations are creating an NPC research program. The first study will support efforts to include NPC among conditions recommended for newborn screening.

For this study, we’re looking for families of 40 sibling pairs with NPC to join AllStripes. To participate in future research opportunities like this one, all families affected by NPC can join AllStripes.

View complete details for AllStripes Sibling Survey.

ASMD Accelerate Study

The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists. 

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease. 

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

NPC Patient and Caregiver Experience Survey

You are invited to take part in a survey being conducted by Rare Disease Research Partners (RDRP) on behalf of Niemann-Pick UK (NPUK). The survey is entitled “Niemann­ Pick disease type C (NPC) patient and caregiver experience”. We know that NPC has an effect on quality of life for patients and caregivers. The purpose of this survey is to increase understanding of the impacts of NPC of patients and their families and to explore the effects of any treatments received.

The results of this survey may be used by decision makers in Europe and elsewhere, alongside other elements such as effectiveness and safety, when evaluating new medicines.

Before you decide whether to take part, please take time to read the survey information carefully and discuss it with others if you wish.

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 the following who have recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support.

James Bailey  –  Kay Lee  –  Tammie Sterling  –  Becky McGuire  –  Katherine Davis  –  Vera Stricklin  –  Kendra Harper  –  Raven Davis  –  Tara Pavey  –  Chrys Mount –  Ariel Johnson  –  Cheryl Bujold-Carter

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

Supporting One Another. Supporting Our Community.

Membership Update

We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.

Click here to enroll today!


For enrollment assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Community News Updates

Cyclo Therapeutics Announcement:
Cyclo Therapeutics is pleased to announce the appointment of Lise Lund Kjems, MD, PhD as Chief Medical Officer. Read complete announcement.

NPC Community Listening Session Summary Report:
On August 3rd, another NPC Community Listening Session was held with the FDA. Thank you to our clinician and family speakers who participated. The Summary Report is now available and can be found on our website. We continue our outreach on these urgent topics with the FDA to ensure the patient and Niemann Pick community voice is heard. Read summary report.

Update from Mandos Health:
The following information was shared with NNPDF by Mandos Health and is also available at mandoshealth.com/communications. Read complete update.

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 lturner@nnpdf.org.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help 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. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or familyservices@nnpdf.org. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete the fillable PDF application, and return via email to Laurie Turner at familyservices@nnpdf.org.

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

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.

       

Supporting one another. Supporting our community.