September is Newborn Screening Awareness Month
In recognition of Newborn Screening Awareness Month we are sharing the Firefly Fund’s September Firefly Chat, which is sharing a recent discussion from the recent World Orphan Drug Congress from August, 2020. You can click here to listen. The panel discussion features speakers Pam Andrews, Executive Director of Firefly Fund ; Pat Furlong, with Parent Project Muscular Dystrophy; Emily Fields of Bluebird Bio; Dean Suhr, of the MLD Foundation; and Dr. Melissa Wasserstein, from Montefiore Medical Center. The panelists were moderated by Allison May Rosen of 3D Communications. Happy Newborn Screening Awareness Month!
October is 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.
In the month of October, GET INVOLVED BY:
- Sharing the NNPDF Awareness Video (Coming soon!)
- Using our Niemann-Pick Awareness Month Facebook profile frame:
- Click the camera on your Facebook profile picture.
- Select the “Add Frame” option.
- Type NNPDF in the “Choose a Frame” search window.
- Select the “NNPDF Niemann-Pick Awareness Month” frame.
- Sharing our Niemann-Pick Quick Facts on your social networks
- Supporting NNPDF important advocacy, family services, and research programs through donations
Supporting One Another. Supporting Our Community.
Community News Updates
National Institutes of Health: Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease. NIH observational study suggests that the drug may decrease risk of pneumonia and death in this population. Click here for complete article.
Edenbridge Pharmaceuticals announces the launch of its miglustat 100mg capsules. Click here for complete announcement.
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Updates from Cyclo Therapeutics:
- Cyclo Therapeutics to present at 2020 Annual Conference for NPC Patients, Families, and Health Professionals in the United Kingdom.
- Cyclo Therapeutics Inc. Announces Additional Efficacy Data from its Ongoing Phase I/II Trial using Trappsol® Cyclo™ Intravenously to Treat Patients with Niemann-Pick disease Type C1 (NPC1).
- Cyclo Therapeutics Closes $2.8 Million Private Placement led by Novit LP with $1.0 Million.
CLICK HERE for complete information on above latest news.
Update from IntraBio: IntraBio reports positive data from IB1001 Multinational Clinical Trial for the treatment of Niemann-Pick disease Type C. CLICK HERE for complete latest news.
Update from Mallinckrodt Pharmaceuticals: Mallinckrodt Update to the NPC Community on Adrabetadex: Dr. Steve Romano, Mallinckrodt’s Executive Vice President and Chief Scientific Officer, has prepared the following video for the NPC community. CLICK HERE for complete latest news.
Update from Orphazyme: Orphazyme announces U.S. FDA acceptance and priority of new drug application for arimoclomol for Niemann-Pick disease type C. CLICK HERE for complete latest news.
Becky McGuire, NNPDF Vice Chair
We are pleased to announce Becky McGuire as NNPDF Board Chair. Becky’s cousin, Kelly Thompson, was diagnosed in 2005 with NPC1. She has been an advocate for Kelly, learning as much as she can about the disease while helping her family through a very harsh reality of this awful disease.
Becky shares: “I am looking forward to continuing the transparent work of the board and supporting the foundation and community in its communications and marketing efforts. NNPDF has made incredible progress over the past few years and I am eager to help the foundation in any capacity. From fundraising efforts, awareness and communications, we are all in this journey together and know that it is an honor for me to serve our community.”
Congratulations Becky! We look forward to your support in working with the NNPDF team!
Congratulations to our 2020-2021 NNPDF Research Fellowship Award recipients!
Gita Naseri, PhD
Edward H. Schuchman ASMD Research Fellowship Recipient
Project Title: “In celluluo characterization of small molecule activators of acid sphingomyelinase”
Sponsoring Institution: Humboldt University of Berlin (Germany)
Peter G. Pentchev NPC Research Fellowship Recipient
Project Title: “Generation of humanized mouse models for Niemann Pick disease Type C”
Sponsoring Institution: The Hospital for Sick Children, Toronto (Canada)
Did you know that since 1993 NNPDF has funded 52 grants and 18 fellowships totaling over $4,000,000? NNPDF’s contributions to Niemann-Pick research have contributed to the identification of disease-causing genes, insights into the pathogenesis of NPC1 & NPC2, support of the NPC cat model at a critical juncture, and development of an assay for newborn screening. Many former grantees and fellows have remained active contributors in the Niemann-Pick disease space.
We are proud to announce that NNPDF is once again funding important research fellowships! The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick disease.
Presentations on the fellowship research will take place at the NNPDF Conference in July 2021.
NNPDF Community Mobile App
Have you downloaded the NNPDF Community app? The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. Download to your smartphone or tablet!
The NNPDF Community Mobile App is available through the App Store and on Google Play. After the app is installed, enter your email address and create your profile.
NNPDF In Action
Justin Hopkin Wears a Lot of Hats and Makes Them All Fit to Help Serve Others | NNPDF Board Chair was recently featured in Uplifting Athletes, a national nonprofit organization aligning college football with rare diseases. Justin, you are in inspiration to many and we are honored to have you serving our community. Click here to read article.
NNPDF Executive Director, Joslyn Crowe’s recent article was featured in Rare Disease Report on HCP Live. Read “Getting a Treatment Is Not the End of the Road in Rare Diseases” here.
We’re proud to share NNPDF Executive Director, Joslyn Crowe’s, podcast episode on Global Genes RARECast where she speaks about how NNPDF is preparing the patient community for the availability of the first therapies for niemann-pick disease, the issues people will need to consider, and how families may think differently about their futures. Listen here.
Homers for Heroes
Congratulations to Kelly Ann Thompson (NPC) who was recently recognized as a Homers for Heroes, “Hero of the Day”! Kelly has volunteered for numerous trials and tests in hope of helping the doctors and scientists find a cure for NPC. She is 41 years old now and has battled this disease for more than half her life with no complaints or “why me”. Kelly lives in a senior center as she requires 24-hour attention.
Homers for Heroes states “Kelly, and others who suffer from difficult diseases, but continue the fight every day, are our heroes! Kelly, we are so sorry for what you are going through and thank you for working so hard to help find a cure. You are our hero!”
The Homers for Heroes organization was created by New York Mets first baseman Pete Alonso and fiancé Haley Walsh to recognize the outstanding work of our heroes and inspire others to be a hero in others’ lives. Learn more at homersforheroes.org.
Sanofi Genzyme recently announced the launch of ASMDFacts.com, a web resource dedicated to Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick disease types A, A/B, and B.
This website includes helpful resources for both diagnosed and undiagnosed patients, as well as their caregivers. Visit ASMDfacts.com and register to stay up to date on information about ASMD.
Navigating Together: Support for all phases of Niemann-Pick disease
NNPDF is continuously working to meet the needs of our community. An area of need that we hope to help support are those surrounding loss (bereavement) and loss related to the Niemann Pick Disease Diagnosis. NNPDF Family Services is offering a new direct services program to provide a confidential space for families to process the complexities related to the realities of loss on multiple levels.
Our program will include small group sessions for bereavement and loss (via Zoom online platform) led by licensed professional trained in grief counseling. It will be free of charge for NNPDF community members and will require an 6 or 8-session commitment. Sessions will be held weekly, bimonthly, or monthly.
If you would like to learn more about Navigating Together, please contact Laurie Turner, Family Services Manager at firstname.lastname@example.org or 603-413-8707.
NNPDF Challenges of Access Survey
Thank you to all who participated in the NNPDF’s Challenges of Access Survey. The data collected will assess challenges you have experienced in accessing care, coverage for medications, services, and devices, and will be a valuable tool for us in advocating for Niemann-Pick families to ensure coverage for FDA-approved treatments. The data is being analyzed now and we will share the results in early 2021.
Shared Journeys: Unaffected Siblings Group
Interview with Christopher Sousa
by Miranda Feinberg, NNPDF Intern
Meet Christopher Sousa, age 19. Christopher’s brother, Connor, is 17 and was diagnosed with Niemann-Pick type C in late 2011.
Can you tell us a little bit about yourself and your sibling?
I am Christopher Sousa, I’m nineteen… Connor is seventeen. So, he wasn’t diagnosed until December of 2011, he was eight and I was ten. And there were clues, like when he was four and he had liver problems, we thought it was Biliary Atresia, and when he was seven weeks old he had surgery on his liver.
Do you remember being told when Connor was diagnosed or learning about the diagnosis?
Yes, I do. I don’t think I was really told much since I was ten, so I was just pretty much told ‘he has this thing, and he’s probably not going to live as long as you or other people.’ And that was pretty much it.
And before the diagnosis, did you notice anything or any symptoms on your own, or did you find out mostly through your parents?
When Connor was in pre-school my dad thought there was something wrong, and my mom just said he was being paranoid. But then in kindergarten I think they both noticed something was wrong, because I remember when he was in kindergarten there were a couple days where he had to wear an EKG. Of course, cataplexy was super obvious, but there’s nothing that seems necessarily wrong with that, it was just like ‘oh, he fell over because he was laughing.’
Is there anything you wish you had learned or were told when you first learned the diagnosis?
It’s kind of related, but I do wish I had been tested to see whether or not I’m a carrier at the same time that he was tested. Just to know, because that’s still something that bothers me now since I haven’t been tested.
How does Niemann-Pick affect your daily life, for you personally versus your family as a unit?
I don’t know, it sort of becomes a fact of life. I just don’t have anything to compare it to, other than I guess my friends. But everything, when you compare it, isn’t going to be the same.
Does Niemann-Pick affect your daily routine in any way?
I remember feeling disconnected from other people my age kind of, when I found out, because suddenly there was a lot more responsibility. You were now spending parts of your day taking care of your brother instead of going out, to the park, having fun, and hanging out after school.
How do you explain what Niemann-Pick disease is to your friends?
It’s not really something that comes up often. I just tell them he has a disease, he was born with it, and it only gets worse. He used to not be as bad as he is now, he used to be like us until he was about eight or nine. So that’s kind of what I tell people.
In general, do you think you get enough information about Connor’s health or about Niemann-Pick in general?
I think so, especially now that we’re part of NNPDF, I think if we weren’t there would just be a lot less information. Also, it’s just so good having other people around who understand.
Do you find that most of your information about Niemann-Pick is given to or shared with you, or do you ever seek out information on your own?
I think it’s definitely a mix of the two, seeking and receiving. I get a little bit from my mom, and a little bit from NNPDF emails, so I go in and read the links. But I’ve also looked into it more in the past, especially in high school, on projects dealing with biotech.
What advice would you give to other young people in your situation when they first learn of their sibling’s diagnosis?
Definitely, there’s a lot of times where it’s really easy to be angry or upset, and you just have to laugh, just be like ‘how stupid is this?’ When I was younger I was really angry about it all the time, and I never really took the moments as like ‘oh, he made a mess, that’s funny’ versus ‘he made a mess, now I have to clean it up.’
Is there anything related to your brother’s illness that you personally are in charge of handling or feel most responsible for?
One of the things that I do most days is a breathing treatment that he does now. It takes about an hour, he does it twice a day, and I’m usually there doing it. As they get older they have trouble swallowing, and they get fluid build-up in their lungs, so it’s to prevent that.
Are there other things you and your brother share, any activities you like to do together?
When we were younger we used to watch movies and listen to music together all the time… now not as much. His favorite song, we would both just yell it, was “We Built This City” [by Starship] and he definitely, definitely loves watching The Muppets.
For more information on the Unaffected Siblings Group contact Family Services Manager, Laurie Turner at email@example.com.
In the Spotlight
Tell us a bit about yourself, such as where do you live and what do you enjoy doing?
My name is April Clemenza. I was born in Southern California on March 23rd, 1983. I am the oldest of four. As far as we know I am the only one in our family to have Niemann-Pick. We moved to Texas when I was little. Currently, I am 37 and live in Cibolo, Texas, a small suburb of San Antonio. I am married to my best friend. Chris and I will have been married 14 years on December 4th, 2020. We have a 5-year-old son named Nicholas. He is our world. My husband is in the Army and we have moved several times over the years but are finally back home. Which means that we are near family. I love being able to spend time together. Matter of fact, it is my favorite thing to do. Growing up, my family was always there for me. Today the only thing that has changed is now my husband and son are there too. They are my biggest support system.
When did you receive your diagnosis? What led you to diagnosis?
I do not remember the day that I got my diagnosis because I was only two. I have been told the story many times though. Originally my parents were given a false diagnosis of Leukemia. Then at age two, I became sick and was admitted to the hospital with Mono. It was at that time the doctors realized how my spleen reacted and decided to do further testing. My parents finally had their answer, Niemann-Pick B, now known as ASMD. After the diagnosis I was followed closely by several teams of doctors. Mostly by a Neurologist and Hematologist who diagnosed me. My neurologist stated that he saw the Babinski reflex and referred me to the National Institute of Health who at the time were working with Type C patients. That program eventually lost funding and ended though.
What were the first steps your parents took after diagnosis?
For many years I had normal check-ups to make sure I was on track. Sure, I had little hick-ups along the way but who doesn’t. I went to school like everyone else. I played with all my friends. I did sports like softball, tennis and swim team. I love swimming. I was in band. I loved and still love art. I graduated high school on time in 2001. I lived a pretty normal life except missing a day here or there to stomach aches.
In the summer of 97, I was away at camp when my appendix ruptured. I spent a little over a week in the hospital. In October of 98 I hit another hick-up. I had developed a rash of petechiae on the backs of my legs, my hands and ankles. We found out my platelets were at 3,000. The doctors ran a lot of tests and came up with Immune Thrombocytopenia Purpura or ITP for short. The doctors were having a hard time getting my platelets to climb to a safe level. They decided it best to prep me for a splenectomy. I remember it clearly. I had received all my shots to prepare my body to not have a spleen. My Dad had gone home for a bit to shower and change. My Mom stayed with me. The surgeons had just come in to discuss everything with us when my Dad came running in and told them “get out! She’s not having the surgery”. See, my Dad had received word from Doctor McGovern at Mt. Sanai. At the time she was head of the clinical research team working with Niemann-Pick patients. She had told him not to let the surgeons remove my spleen unless it was a life and death situation. She explained how important the spleen was to Niemann-Pick patients.
Not long after that I made my first trip to NYC. I was so excited to be there. I remember meeting my friend Leslie. She was the first person with Niemann-Pick, other than me, that I had ever met. She is no longer part of this world, but I will always carry her in my heart. She is like many I have met and love that have been lost to this horrible disease. She made me realize I was not alone in this fight. We have each other.
How did you learn about NNPDF?
Doctor McGovern introduced me to the NNPDF while I was in NYC. In doing so she gave me a connection to an irreplaceable family. I attended my first medical conference in 99. I do not know where I would be without the courage, strength and patience I have learned through the families in the NNPDF. I have made valuable connections to doctors, researchers, other patients, and I was even part of the phase 1a trial for Olipudase Alfa, enzyme replacement therapy. Every year we look forward to seeing everyone at the annual NNPDF conference and learning new information. The NNPDF plays a huge role in bringing our families together and providing us with resources to help guide us to a better future. Being part of a family is being part of something bigger than just yourself. That is what the NNPDF is to me.
What impact has ASMD had on your life?
It has been a long road and these last few years have been my hardest. I have had a continual flair up of ITP and was also diagnosed with Multiple Sclerosis. I am learning new ways to overcome just as I did when I was little. I am looking forward to the future. With the trials for Olipudase Alpha nearing an end there is new hope. A day where I can finally have strength to do day to day tasks without being so worn out. A day where I can take a deep breath and truly breath in. A day where I can keep up with my little man. A day where we can all feel 100%. I know my parents and husband have been waiting for that day too. I know it is close.
How has being an NNPDF member benefitted your family?
The role that the NNPDF has played not only in my life, but all of ours, is huge. They make it possible for us to have the connections to each other, not only here in the states, but all around the world. They have brought us together to support one another and share with each other whether it be grief or happiness. If anyone knows what I have gone through it is all of you, the NNPDF family. Thank you for always being there for my family and me. Stay Strong and stay positive. That day is coming.
Family Journeys Blog
Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!
This Summer, despite such globally challenging times, has been a season of growth for the INPDR and we thank our US-based supporters for their continued belief in the power of patient data. As we move into Fall, the next few months set to be equally as busy for the team.
As you may be aware, we began the recruitment process for a Clinical Research Associate (CRA) to expedite data entry and support clinical centres in the US with participation in the INPDR. We were delighted to receive over 150 applications and that have now been short-listed – we hope to introduce our new CRA very soon as we get closer to appointing the right candidate. We’re really excited about the boost this project will make to recruitment to the INPDR and, in turn research and progress for the Niemann-Pick disease community.
The Registry Management Team have also been working hard to develop aspects of our governance, which will consolidate our work and improve communication with the Niemann-Pick disease community and our wide range of collaborators. Every piece of patient data is another step along the road to progress – the more patients and their families that take part, the greater the outcomes are likely to be. The data in the INPDR belongs to patients in every sense of the word – our hope is that families and advocacy groups can make as much use of the data as researchers. Every research output helps us to learn and understand Niemann-Pick disease community and a true patient and family perspective is vital to this.
You can sign up to our newsletter, due to launch in the New Year using this link: Subscription list or visit the website: inpdr.org/contact-us. Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.
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 firstname.lastname@example.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.
Fundraising & Awareness Opportunities
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. Click here to view current and past fundraising and awareness events.
THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at email@example.com to let us know.
Save the Date!
NNPDF – INPDA Global Family Support & Medical Conference
MARK YOUR CALENDARS! The 2021 NNPDF – INPDA Global Family Support & Medical Conference will be held July 29 – August 2, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.
Thursday, July 29:
NNPDF Family Advisory Working Groups
NNPDF Conference Opening
NNPDF Welcome Dinner Event
Friday, July 30:
NNPDF Community Conference Sessions
INPDA Welcome Dinner Event
Saturday, July 31:
NNPDF & INPDA Global Community Conference Session
NNPDF & INPDA Gala Dinner
Sunday, August 1:
INPDA Conference Sessions
INPDA evening event
Monday, August 2:
INPDA Community Conference Sessions
Check out our Upcoming Events page.
Stay Connected With Us
A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.