September 2019 Newsletter
Message from Executive Director
October Awareness Month
NNPDF Giving Day | NPD Awareness Day
Newborn Screening | PFDD Patient Voice Report | NPC Perspective
NNPDF Emergency Hardship Program
Clinical Trial Update | Community News
Upcoming Events | Fundraising & Awareness Events
Save the Date | Stay Connected With Us
Dear Friends and Families,
As summer draws to a close, we are still enjoying the positive feedback we are receiving from our families about their experience at our Family Support & Medical Conference last month. It is heart-warming to hear your stories of connecting with friends, finding support for your family, your interactions in the Family Advisory Working Groups, and your appreciation of the educational and break-out sessions throughout the weekend. If you haven’t had a chance to see the photos from the events, click here!
September is Newborn Screening Awareness month. NNPDF is a proud member of the FireflyFund’s Newborn Screening national initiative, partnering with community organizations to raise awareness of the importance of screenings for Niemann-Pick disease. Simply put, newborn screening saves lives. At NNPDF, we provide psychosocial supports and unbiased education and resources to families who are newly diagnosed as an important part of our mission. You’ve told us clearly with your words and actions: Family support and advocacy are essential to the community. If you know a family who has been recently diagnosed with Niemann-Pick disease, please encourage them connect with us! If you’d like to learn more about the importance of newborn screening to our community, click here to watch our Community Webinar on the topic.
October Awareness Month is nearly here and we need your help to continue the exciting growth of NNPDF! Over the past year 2 years we have expanded our Family Services to include Webinars, Direct Services, Group Chats, Hardship Programs. We have supported, created and attended some amazing Community Advocacy Sessions through the NNPDF Family Advisory Working Groups, the patient-focused drug development meeting, and collaboration with our international partners.
To continue all this exciting work and community collaboration we need your help with support and awareness. Here are a couple ways this month that you can help:
Personalize your social media profile picture to help spread awareness of Niemann-Pick disease all month long! Please send all personalized profile requests to our talented Communications Manager, Jill at firstname.lastname@example.org. Click here for profile request details.
October 12 – NNPDF GIVING DAY
A social campaign. Follow, Share and Give on this day to show your support of providing the best resources for families and patients facing NPD.
Oct. 19 – INPDA WORLD AWARENESS DAY
NNPDF is proud to be a Full Member of the International Niemann-Pick Disease Alliance (INPDA) which works to collaborate with NPD organizations around the world on projects like the International Niemann-Pick Disease Registry (INPDR).
Joslyn Crowe, MSW, MA
NNPDF Executive Director
October is Global Niemann-Pick Disease Awareness Month! This is a great opportunity USE YOUR VOICE to raise awareness and educate others about Niemann-Pick Disease in your community.
Here are 4 ways to get involved:
1. The NNPDF will be offering personalized Facebook profiles pictures to help you spread awareness to your friends and families throughout the month of October. Please send all Facebook profile requests to Jill at email@example.com.
In your request please be sure to include:
- Your loved ones photo
- Your loved ones first name (as you would like it to appear)
- NPC or ASMD
- In honor of or In memory of
2. Do you want to be featured on a Quick Facts post on social media? If so, please let us know and we may use your photo (or your loved ones photo) on one of our daily Niemann-Pick Disease Quick Fact posts during the month of October.
3. October 12th is the NNPDF Giving Day social campaign!! By sharing NNPDF’s social media posts you will not only be raising much needed awareness of Niemann-Pick Disease, but will also help to support the programs the NNPDF has been working diligently to create to support our NPD families.
4. We encourage you to educate your local and state-wide communities on Niemann-Pick Disease by obtaining a Proclamation in your state.
5. Join us October 19th for our first ever GLOBAL Niemann-Pick Awareness Day! On this day we join together with our INPDA members from across the globe in a collaborative effort in raising awareness of Niemann-Pick Disease. The INPDA will be sharing posts and videos on the INPDA Facebook page, Twitter and Instagram that you can then share with your own social media community. Together we will spread the word and #USEYOURVOICE.
October 12th is the NNPDF Giving Day social campaign! By sharing NNPDF’s social media posts in October you will not only be raising much needed awareness of Niemann-Pick Disease, but will also help to support the programs the NNPDF has been working diligently to create to support our NPD families. Watch social media for campaign updates!
Join us October 19th for our first ever GLOBAL Niemann-Pick Awareness Day! On this day we join together with our INPDA members from across the globe in a collaborative effort in raising awareness of Niemann-Pick Disease. The INPDA will be sharing posts and videos on the INPDA Facebook page, Twitter and Instagram that you can then share with your own social media community. Together we will spread the word and #USEYOURVOICE.
September is Newborn Screening Awareness month – a great time to raise awareness about the efforts the Niemann Pick community is undertaking to add NPC to newborn screening lists nationwide. Led by the Firefly Fund’s Newborn Screening Working Group, all month long, you can follow updates on Twitter and LinkedIn about the importance of newborn screening, what it entails and what it would mean for the NPC community. For example, one Tweet noted, “Newborn screening can help families of children with rare diseases avoid a long diagnostic odyssey. Knowing sooner is better!” And another informed people that “Newborn screening is not just a test.” The NPC Working Group is working with a wide range of stakeholders to demonstrate how screening for NPC will fit into the US public health care system. That means demonstrating we can effectively screen, diagnose, refer and care for any family who receives an NPC diagnosis through newborn screening. Follow #Fireflyfund this month and beyond for newborn screening updates. Thank you!
The Voice of the Patient report from the PFDD has just been released! NNPDF was proud to partner with the Ara Parseghian Medical Research Fund (APMRF), Dana’s Angels Research Trust, Firefly Fund, Hope For Marian, Niemann-Pick Canada and Jonathan’s Dream on the Patient Focused Drug Development meeting that took place with the FDA this spring, an important forum for patients and their caregivers to voice their perspectives, experiences, needs, and priorities on NPC. The Voice of the Patient report provides a summary of the meeting and has been shared by APMFR with the FDA. Click here for the complete report.
By Debbie Kaflowitz
Mother of Rachael (06/21/1985 – 10/25/2018) NPC
Dealing with the Unexpected
For most parents of children who are fighting NPD, life is divided into several distinct parts, each bringing on a new normal for the family. As part of our ongoing series “Living with Adult Onset NPC”, I‘d like to discuss what those distinct parts look like in adult onset, the specific challenges those families face, and the beginning of how to find solutions.
Before symptoms, life goes along as you expected it, closely in line with your friends and families. Although there are the normal ups and downs, you plan and prepare for each milestone in your child’s life, and for the most part, things go as planned.
But what happens when milestones stop being met and dreams begin to feel unreachable?
When you have a loved one with Adult Onset NPC, you recognize the blessing of so many years symptom free, but also have a burden of watching your loved one struggle to adapt to the reality of having their independence slowly taken from them and figuring out how to make their life and yours the best it can possibly be.
Like many adult onset children, our daughter Rachael had a very normal childhood. She loved preschool, took ballet lessons, and had play dates. As Rachael grew older, she danced in many recitals and baby-sat. She was a fantastic camp counselor. She worked in the art room and was the youngest bus counselor, decorating the bus, singing songs, and making sure everyone got to the right place at the right time. She had dreams of becoming a teacher like me. Even though she was classified for a learning disability, we had no reason to suspect that she wouldn’t be able to achieve her goals.
Like other parents, we anticipated many rites of passage, such as celebrating high school and college graduations, finding that first job, getting married and having children, so we could enter the wonderful world of being grandparents. Although Rachael didn’t even have a boyfriend, she and I would watch the TV show, “Say Yes to the Dress”. We had a good time evaluating the dresses, discussing which one the bride should pick and which ones would look good on Rachael.
Other families I know had young adults who were involved in sports through middle school, and some, even into high school, participating in gymnastics, swimming, basketball, football, and skiing. Some were even the captain of their team. Many young adults graduated from high school and continued onto college. They met milestones on their journey toward adulthood, such as getting a driver’s license, and were on their way to becoming independent adults. Most of these young adults were very aware of what life had to offer and could visualize a future that included college or vocational training, jobs, marriage and family.
While having a normal life for a fairly long period of time is the good news, the devastating news is that our adult loved ones have a lot to lose. Suddenly, for no apparent reason, they begin to deteriorate. We enter the “What’s going on?” stage of life. The good students start to struggle in school; the athletes start to have trouble with coordination. Driving becomes dangerous because their brains just don’t seem to be functioning as they used to. Peers start to drift away because our children can’t keep up with conversations and start saying the wrong thing at the wrong time. Children who had been succeeding in high school are moved into special education classes or special education schools. College students have to drop out and come home, as do those who were working and living in apartments. All their dreams start to slowly slip away. One young adult lost his car license, boat license, shooter’s license, job, apartment, and friends. I’ve also met adults who are married, have grown children, and are now finding themselves needing help with everyday tasks when THEY had been the person their family depended on for many years. Eventually, they lose every bit of independence they had gained.
This stage of life is devastating for the whole family. Although their loss of independence continues, for many there are still no answers. The heartbreak deepens for you, as a caregiver, as you understand how aware your loved one is of what is happening, at least in the beginning. While their peers are moving forward with their lives, our loved ones know they are going backwards. During this time, families put plans B, C, D, and E into action. If Rachael couldn’t go to a four-year, she would go to a two-year college. Can’t make it in a two-year college, how about a vocational school? Let’s try a teacher’s assistant in a preschool, not an actual teacher in an elementary school. While all of this is happening, many of our loved ones also begin experiencing the psychological symptoms I wrote about in my last article and some are hospitalized for various amounts of time.
The list of plans, each involving lowering expectations continues on and on. The number of new normals you are trying to deal with is overwhelming. Some young adults try jobs, but they don’t last long. Trouble with basic skills, such as operating a cash register, difficulty following multi-step directions, staying on task, and needing too much one-to-one attention result in being fired or just quitting. As loved ones start to experience failure after failure, loneliness and depression begin to set in. Instead of watching, “Say Yes to the Dress,” Rachael would lie on the couch asking, “Who will want to marry me like this?” For many, they face the reality of not being accepted by their peers during a time of life when it is the great desire.
As parents and caregivers, we have no idea how to help our loved ones. We feel hopeless, alone, and scared. We also feel confused because, even at this point, many adult onset patients, including Rachael, still haven’t been diagnosed with NPC.
Families who don’t have a diagnosis keep searching, while still trying to keep up with the ever-changing needs of their loved one. Those with a diagnosis read everything they can get their hands on in the hopes of finding some positive news.
Whether our loved ones have a diagnosis now or not, we all enter the stage of “Now what?” What will make them happy? Is there a day program that fits their needs? Is there a job that will accept their limitations and make them feel successful? Are there companions who will make them feel included and liked? How do we even go about finding out about options? Who will help us? Are there state agencies? Are there people who have walked this road already and can give us advice? How do we find these people? What about the financial aspect of all of this? How do we even take the first step?
Unfortunately, the answers to many of those questions depend on where you live. State agencies, programs, and procedures vary from state to state. The chances of finding the right match for your loved one, whether it is a job with a job coach or a day program varies, depending on your location. Is it more difficult to find something in a very rural area than a city? Of course it is. However, we all have at least two places to start. The first is the National Niemann-Pick Disease Foundation. You can reach out to Laurie Turner, Family Service Manager at firstname.lastname@example.org. Also, go to the Facebook page called Aging with NPC. It is a closed page, designed to help families who have loved ones with adult onset or children who have reached adulthood. It’s a wonderful group, comprised of people from all over the world. Together we have a wealth of knowledge and experience. If you ask a question, you are sure to receive several responses. This page is open to everyone with Adult Onset. As manager of the page, you must first ‘friend’ me and then I can add you to the page. Just send me a friend request and a message that you would like to be added or send me an email at email@example.com.
In my next article, I will explore the agencies, organizations, and services families in this position have found. I will be sending an email, asking for input for my next article to people who have contributed so far. I will also post my request for information on Aging with NPC. If you have questions or information to share, please contact me at the email address above.
Topics you would like featured? Email me at firstname.lastname@example.org.
Previous articles is this series: NPC Perspective and NPC Perspective: The Long, Long, LONG Road to Diagnosis.
The NNPDF Emergency Hardship Program launched July 1st. This 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 email@example.com. 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 $750 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.
*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.
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 CTD Holdings:
CTD Holdings Announces FDA Approval of US Expanded Access Treatment Program in Niemann-Pick Disease Type C. Click here for complete announcement.
Update from IntraBio:
IntraBio confirms that the Clinical Trial IB1001-201 is open for US recruitment at the Mayo Clinic. Click here for complete announcement.
Update from Mallinckrodt:
Mallinckrodt Update on Phase 2b/3 Study suspension in UK and France. Click here for complete announcement.
CTD Holdings’ Company Chair and CEO N. Scott Fine was recently interviewed on Bloomberg International’s RedChip Money Report. In the exclusive interview, Fine discussed the Company’s use of Trappsol® Cyclo™, an orphan drug designated product in the United States and Europe, which is used to treat Niemann-Pick Disease Type C. Click here for complete announcement.
CTD has also announced that the company will present on its clinical and drug development program for the orphan drug, Trappsol(R) Cyclo(TM), at the 26th Annual NPUK Family Conference. Click here for complete announcement.
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 firstname.lastname@example.org to let us know..
Yankee Candle Fundraiser
Yankee Candle Online Fundraiser in memory of Bryanna Desouza and in honor of all Niemann-Pick Disease families started July 11th and runs through January 8, 2020. Click here for complete details.
Bryanna Desouza (Jan 20, 1992 – Dec 5, 2006) NPC.
Have you hosted a fundraiser for NNPDF recently?
Send us your photos and we’ll share them and details from your event in upcoming newsletters!
Kailey Florkiewicz Sweet 16 Celebration
A big party / fundraiser to celebrate Kailey’s sweet 16 birthday was held on August 17th. Many close friends and family attended. Everyone had a wonderful time and Kailey was happy the entire day! Click here to view more photos from the event. Happy Birthday Kailey!
Save the Date!
NNPDF Family Support & Medical Conference 2020
Mark your calendars for July 9-12, 2020 to join us at the NNPDF Family Support & Medical Conference – including Family Advisory Working Groups – in San Antonio, Texas!
Check out our Upcoming Events page at nnpdf.org/news-media/upcoming-events/.
Niemann-Pick Disease Awareness Month: Click here for information
OCTOBER 12: NNPDF Giving Day
October 19: International Niemann-Pick Disease Awareness Day
NNPDF Family Support & Medical Conference 2020
July 9-12, 2020 | San Antonio, Texas
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.