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

October 2021


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.”


Supporting one another. Supporting our community.

September – October 2021 News

October 2021

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!


  • 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


  • 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

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.


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 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 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 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

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 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

*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.