May 2019 Newsletter
Family Support & Medical Conference
Family Advisory Groups with Industry Partners
NPC Perspective | Newborn Screening
NNPDF Emergency Hardship Program
Spotlight | Clinical Trial Update | Pam Crowley Andrews
Upcoming Events | Thank You Chris Klauer
Fundraising & Awareness Events | Families Helping Families
Stay Connected With Us
Have you registered for the NNPDF Family Support & Medical Conference yet? You don’t want to miss out, our 2019 conference promises to be one of the best! Register by June 27th and get your name in a drawing for a free gift from the NNPDF Store!
Registration Forms & Fees: THURSDAY, JUNE 27, 2019
Hotel Reservations: WEDNESDAY, JULY 24, 2019
Rates increase June 28th!
Register TODAY to guarantee your participation in our inaugural Family Advisory Working Groups where you can be a part of helping share the community needs with Industry. Travel and hotel stipends will be provided to working group participants.
Your registration fee includes Thursday evening dinner, Friday and Saturday breakfast and lunch, and the Saturday evening Gala Event. Visit nnpdf.org/2019fc to learn more about the working groups, conference stipends, hotel reservations and to register.
We’re excited to see you in Bloomington!
Have you applied to take part in our inaugural Family Advisory Working Groups with Niemann-Pick disease Industry partners? Understanding the perspectives of patients and caregivers is of utmost importance, and this is done by communicating with you, the patients and families who are the most knowledgeable. Family Advisory Working Groups are an important opportunity for you to share with the pharmaceutical industry your unique patient /caregiver perspectives and provide guidance in the Niemann-Pick Disease patient and family experience.
Working Groups will take place prior to the Conference on August 15th from 10:00 am – 3:00 pm. Participants will receive a $500 Working Group stipend and 1-night hotel room. Participation is by application approval only. For complete details and to apply please visit nnpdf.org/working-groups. If you have any questions, please feel free to contact Family Services Director Laurie Turner at email@example.com.
By Debbie Kaflowitz
Mother of Rachael (06/21/1985 – 10/25/2018) NPC
It was July 2013. As we drove to Baltimore to attend our first NPC Family and Medical Conference, I tried to imagine what the next 2 days would be like. Rachael had been diagnosed in October of 2012, at age 27, and while I had made friends with other parents of NPC children on Facebook and spoke to a few parents over the phone, I had never met anyone in person.
Little did I know, I would meet an entire community of the strongest, most supportive and understanding, people in the world. These people were, and continue to be warriors, fighting the ultimate fight, to save their children. We would become close friends and each other’s support system. Over the next two days, I would experience sadness, happiness, confusion, clarity, hopelessness, and hope. We would laugh together and cry together and build an incredible bond. On the last night, we would all dance together.
Nevertheless, there was something different separating our family from almost all the other families at the conference: Rachael was diagnosed when she was an adult. She was labeled as adult onset, a term I had never heard before. Rachael had moved forward for 16 years. She was a camp counselor, baby-sat, had her driver’s license, and a part-time job. She was very conscious of the way her life was supposed to be. She expected to have boyfriends, parties, prom, college, marriage, and a family in her future. Little by little, each of these expectations drifted away. As she moved backwards, she mourned each piece of adulthood and independence that was taken away from her, and so did we.
There was one breakout session during the conference devoted to adult onset. I was happy to meet the other four or five families who were also dealing with Adult Onset. I don’t know what I would have done without the facilitators, Lori and Wayne Palmiter. They were extremely supportive and had a wealth of information. I was able to meet and talk to other parents in the same situation, which was so necessary for all of us.
Like several other families in this group, Rachael was no longer in school. Thus, there was no ready-made class of peers, and we were all at the mercy of state agencies. It was difficult to find comprehensive programs for our children that could give them a full life outside the house. The average age in most of the programs was about 40, which didn’t seem like a good match for our younger adults. Loneliness was a big concern. High school friends had left them behind long ago. Since our children were adults, financial considerations, health insurance issues, and guardian arrangements were different for us than for younger families. As parents, we were older, and the fear of what might happen to our children if we became ill or worse, was on our minds.
The adult onset population has grown tremendously since 2013. More is known about adult onset, but there is so much more to learn. Over the next several months I will be working with NNPDF on a series of articles that I hope will be of benefit to those of you facing late onset NPC and address some of the unique challenges presented with diagnosis. I will be asking for input on the “Aging With NPC” Facebook page, so future articles will represent several families, not just ours. If you have a child with Adult Onset and you are not on our Facebook page, please email me at firstname.lastname@example.org.
Topics you would like featured? Email me at email@example.com.
The working group for the NPC Community’s Newborn Screening Initiative, led by the Firefly Fund, has been busy this spring. If you are curious about the road map that is being built to make newborn screening for Niemann-Pick Type C a reality, please put one of the upcoming conferences or our July webinar on your calendar to learn more. NNPDF is a working group member and partner of the Newborn Screening Initiative.
In April, Allison Rosen of 3D Communications who coordinates Firefly’s Working Group, addressed the EveryLife Foundation and Genetic Alliance’s Newborn Screening Bootcamp in Chicago on the importance of coalition building. A link to that presentation can be found here.
There will be updates on the NPC Newborn Screening Initiative at the following NPC Community conferences.
- APMRF Conference – Sunday, June 2nd at 2:00 pm
- NNPDF Community Webinar – Wednesday July 10th at 8:00 pm EST/5:00 pm PST via Zoom video
- NNPDF Family Support & Medical Conference – Saturday, August 17th at 9:00 am
- NPUK Scientific and Family Conference – September 21, 2019
NNPDF encourages you to join one of these presentations and learn about the status of newborn screenings for NPC and their importance to the community. Click here for more information on Newborn Screenings.
The National Niemann-Pick Disease Foundation is pleased to announce its new Emergency Hardship Program. Starting on July 1st, NNPDF can help qualified member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating, 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.
The NNPDF Emergency Hardship Program Application will be available beginning on July 1, 2019. 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 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.
Mother of Daniel (12/7/2006 – 11/11/2011) NPC
Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I am a NYS licensed Certified Public Accountant who spent 20+ years working in government. I currently have my own accounting business helping small businesses with understanding their finances. I live near Albany NY (about 3 hours north of NYC). I enjoy reading, spending time with my family and finding fun things to do.
When did receive your diagnosis? What led you to diagnosis?
Dan received his NPC diagnosis in June 2011, after a 4 1/2 year long journey of multiple tests and wrong directions and wrong diagnoses. We finally used Google to pinpoint the possible diseases. We were led to believe that Niemann-Pick was tested at birth and was negative. We later found out only ASMD was tested, not NPC.
What were the first steps you took after diagnosis?
We were in the hospital when we received the diagnosis and we still had a few weeks before we headed home. While in the hospital, I was able to start the process of gaining Medicaid coverage (which took 4 1/2 months). We also obtained some immediate equipment and supplies (suction machine, feeding pump, etc). When we got home, I found the NNPDF and joined. It was only a few weeks before the annual conference in Norfolk VA. We considered going, but we were still overwhelmed and exhausted from the hospital stay.
How did you learn about the NNPDF?
Google search in 2010 and 2011.
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
In 2011 it was the only organization I found that had any support for families dealing with Niemann-Pick. I immediately found other families who understood the disease, offered practical suggestions for supportive care (there were no clinical trials) and were able to answer questions the doctors didn’t know anything about. We didn’t feel we were an island in a big ocean anymore.
What changes have you seen in the Niemann-Pick environment over the past 5 years?
Social media has exploded and more families are making connections worldwide. There are more decisions now on the families – which clinical trial? Do we participate in a clinical trial? Families are more open about discussing issues they are dealing with and reaching out for solutions.
What are your hopes for the future for yourself and for the Niemann-Pick community?
I will always be a part of the community – the family we never knew existed, but now we lean on. I will always offer support and advice to families – newly diagnosed or existing diagnosed.
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, Inc.:
CTD Holdings, Inc. announces its first home-based dosing using intravenous administration of Trappsol® Cyclo™ for NPC. Click here for complete announcement.
Update from Mallinckrodt Pharmaceuticals:
Mallinckrodt shares update on VTS-270-303 Study. Click here for complete announcement.
Please join the NNPDF in congratulating Pam Crowley Andrews! Pam has been nominated as RARE Champion of Hope by Global Genes as the only nominee involved in NPC1 for her extraordinary efforts on behalf of the NPC community. Pam is a mother of 2 daughters, a patient advocate, and both the co-founder and executive director of the Firefly Fund which is leading the national effort to add NPC to Newborn Screenings lists in the U.S. NNPDF is proud to be part of the Firefly Fund’s NPC Newborn Screening Working Group, focused on advancing the cause of newborn screening for NPC. Click here for more information on this important initiative. Congratulations Pam on this recognition!
Check out our Upcoming Events page at nnpdf.org/news-media/upcoming-events/.
Featuring NPC Newborn Screening Initiative
Wednesday, July 10, 2019
5:00 pm EST/2:00 pm PST via Zoom video
CLICK HERE for registration information.
27th Annual NNPDF Family Support & Medical Conference
August 15 – 18, 2019
Optional Working Groups will be held on August 15th
from 10:00 am – 3:00 pm
CLICK HERE to register today!
28th Annual NNPDF Family Support & Medical Conference
July 9 – 12, 2020
San Antonio, Texas
Please join NNPDF Board of Directors and Staff in sending well wishes to Chris Klauer as she begins a new adventure. Chris has been a valued member of our team always giving her utmost dedication and commitment to our families. We thank Chris for her years of unwavering support to our vision and mission. You have played a huge roll here at the NNPDF.
Wishing you much success,
NNPDF Board of Directors and Staff
(on behalf of all NPD families)
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.
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! Click here for information on hosting a fundraiser.
Family Support Program of the NNPDF
The NNPDF Families Helping Families program offers assistance to NPD families who wish to donate supplies and gently used equipment to other NPD families in need. Our goal is to ensure that all NPD families have access to the equipment or supplies that they may need to assist their loved ones affected by Niemann-Pick Disease. Click here for more information and to view all items currently available.
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.