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February 2019 Newsletter

FEBRUARY 2019
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Rare Disease Day:

Global Faces of Niemann-Pick Disease

NNPDF is proud to be part of the Global Faces of Niemann-Pick Disease project. Every year on Rare Disease Day the spotlight is placed firmly on all rare diseases, giving us the opportunity to come together to further collective awareness and look forward with renewed hope for effective therapies and treatments. This year, we join together with the International Niemann-Pick Disease Alliance (INPDA), a group which brings together Niemann-Pick disease member organizations from 15 different countries across the world, committed to raising this awareness every day.

This past month NNPDF has gathered pictures from all you across the United States and joined our international NPD families to visually strengthen our presences and fight against NPD through this Global Faces of Niemann-Pick Disease project. This map shows faces of our US community as well as community members from around the world. We show our ASMD and NPC together, united as one disease across the globe. Today, on Rare Disease Day, we show that though we are a rare community, Niemann-Pick disease has no boundaries and together we support one another throughout the Niemann-Pick journey. Thank you to those of you who participated in this global event.

As the U.S. member organization of the International Niemann-Pick Disease Alliance, we are proud to partner with our colleagues to strengthen the visibility of Niemann-Pick Disease across the states and globally, and in promotion of Rare Disease Day. To learn more about Rare Disease Day visit rarediseaseday.org.

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Annual Call for Volunteers

NNPDF is always looking for volunteers to help assist our work of supporting families and advocating on behalf of our shared needs. Throughout the year a variety of opportunities arise, including ad hoc working groups, committees and Board positions as members rotate off. We are continually looking for skills and experience that match the needs of these ad hoc working groups, committees and the Board.

If you are interested in being considered in one of these capacities, please send a letter of interest and resume or biography that provides us an understanding of your skills, interests and experience. You can send it to Missy Ward, Board Secretary. Once we receive your information, we will keep it on file and as opportunities come up during the year, we may call on you to learn more about your specific interests and experience. If you have questions, please do not hesitate to reach out to Joslyn Crowe, Executive Director, or to Justin Hopkin, Board Chair.

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NNPDF Industry Update webinar series

The NNPDF Industry Update webinar series is a special series that will allow our Industry partners the opportunity to present their latest updates in a unique webinar forum to the U.S. Niemann-Pick Disease community. The webinar series will feature each Industry partner exclusively with its own 1-hour forum. NNPDF Industry Update webinars may also be shared with the international Niemann-Pick Disease community via the International Niemann-Pick Disease Alliance (INPDA). The NNPDF is the U.S. member organization of the INPDA.
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Industry Updates Webinar Series: Featuring Orphazyme

Wednesday, March 6, 2019
8:00 pm EST/5:00 pm PST via Zoom video

Industry Updates Webinar Series: Featuring CTD Holdings, Inc.
Wednesday, March 13, 2019
8:00 pm EST/5:00 pm PST via Zoom video

To register for events in this series click here.

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Family Services Update

The past month has allowed me to connect with more of the NNPDF membership. It was wonderful to host the firsts of our Family Services Connections Chats, we had a great time sharing and learning with one another. Stayed tuned for more chats in the coming weeks. We are excited to create a combination of chats and webinars on the topics we know are important to you. First on the schedule will be the NNPDF Industry Update Webinar Series – pharmaceutical companies will be joining us for hour-long updates on their clinical programs. (Save the date for Orphazyme on March 6th and CTD Holding, Inc. on March 13th). Perhaps you have an idea for a webinar or Family Services Connections Chat? Let me know!

Do you have plans for February 28, Rare Disease Day? It is a wonderful way to raise awareness of the Niemann-Pick Diseases as well as all rare diseases. You can learn more at rarediseaseday.org. If you plan to do something special to honor the day, please send in your pictures to nnpdf@nnpdf.org.

NNPDF Family Support and Medical Conference 2019 is just around the corner and will be here before we know it! Work has begun on structuring this year’s conference with a perfect balance of education, support networking and the opportunity to renew your hope and strength with one another as we learn more about the promising treatments on the horizon. This conference promises to be one of the best yet. If you have not been able to attend in the past or have not attended in a while, we hope this will be the year you join us, you won’t want to miss this one! August 15-18, Bloomington, MN. Registration materials will be available soon.

As we move forward into 2019, I would love to have families I can call upon from time to time to assist with different projects and guidance. Please let me know if you are available to help.

I look forward to speaking with you, learning about your family and how NNPDF can better serve our membership. Please know I am available via email and phone – reach out any time at 603-413-8707 or familyservices@nnpdf.org.

Regards,

Laurie J. Turner


Family Services Manager

familyservices@nnpdf.org

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Additional Travel Funding For Those Participating in PFDD Meeting

CTD Holdings is providing funding through NNPDF to support families with travel assistance to the upcoming NPC Externally-Led Patient-Focused Drug Development Meeting (PFDD). Support is intended for additional family members who would like to attend the meeting but are not eligible for subsidy otherwise. As the national patient organization, NNPDF is glad to assist in providing this support to the Niemann-Pick community.

Externally-led PFDD events are driven by people with NPC and their advocates to provide the FDA with personal perspectives and experiences from the community, including challenges faced on a daily basis in living with NPC and hopes for future treatments. It seeks to better emphasize the voice of the patient in the therapy development process so that these therapies are better tailored to the needs and preferences of patients.

For more information on how to apply for this financial assistance, please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org.

For more information on the PFDD, or to register for the event, visit niemannpickc-pfdd.com.

Click here to read CTD Holdings press release.

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Clinical Trial Updates

Update from CTD Holdings, Inc.:
CTD Reports Initial Data for Two Clinical Trials of Trappsol® Cyclo™ Provided Intravenously for Patients with Niemann-Pick Disease Type C. Click here for complete announcement.

Update from IntraBio:
IntraBio Investigational New Drug application approved by the FDA for the treatment of NPC. Click here for complete announcement.

Update from Mallinckrodt Pharmaceuticals:
Mallinckrodt expects a submission discussion with the FDA in late Spring. Patients continue to receive VTS-270 in the open label portion of the pivotal study and through compassionate use. Click here for complete announcement.

Update from Orphazyme:
Orphazyme reports positive results from full data set of Phase II/III Arimoclomol trial in Niemann-Pick Disease Type C (NPC). Click here for complete announcement.

The NNPDF posts new information regarding clinical trial updates as soon as it is received. Please review our Clinical Trial Update procedure for alerting you to these updates as they are made.

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Honsinger Family

Jay, Donna, Mollie & JP (NPC)

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Tell us a bit about yourself, such as where do you live and what do you enjoy doing:
 

Donna, Jay, Mollie (18) and JP (15) live in Clifton Park, NY. Clifton Park is in upstate New York State about 20 minutes north of Albany, NY. We love going up to Saratoga Lake and hanging out on our boat in the summer months. The rest of the year we enjoy our home, having friends and family over for cookouts and campfires.

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When did receive JP’s diagnosis? What led you to diagnosis? 

JP has always been a happy kid, easy going and full of life. He loves sports that involve a ball. He played baseball, basketball and lacrosse in the past. About the age of 3, we noticed JP was very clumsy. He fell a lot and we thought he just had “low muscle tone”. We put him on a swim team, got him PT and hired a personal trainer to work with him a couple days a week. JP was also struggling in school. Going into 2nd grade he was diagnosed with ADD. JP got an IEP and we had a tutor coming to the house working with him. Even with all the support at school and at home, the gap wasn’t closing of where he should be compared to his classmates. At the age of 7, around the same time of getting him extra help we noticed his eyes didn’t move up and down and he couldn’t converge. Again, we got him help by sending him to a vision therapist weekly. He started having accidents in his pants, couldn’t get to the bathroom fast enough.

We knew something wasn’t right at this point. We brought him to many doctors to find out what was going on. We would google search his symptoms. We started changing his diet, adding different vitamins, trying different things. In the winter of 2013 we met with his neurologist and he said that he was going to send us to Boston Children’s Hospital. We scheduled an appointment and met with a neurologist. After JP’s exam he wasn’t too concerned. We were just finishing up and the doctor asked us if there was anything else going on. At that time, Mollie started to speak up. As she was speaking up, I was trying to hush her and say it was nothing what she was going to share with the doctor. She continued to tell the doctor that when JP laughs he kind of loses control of his head and shoulders and flops over. At that time, the doctor said if we wanted to do a skin and muscle test biopsy to rule out some diseases he would do one. We didn’t hesitate and scheduled the appointment for the skin biopsy right away. We went out in June for the procedure. The doctor told us that it takes three months for them to grow the cells and we scheduled our appointment for September 18th to get the results. We came home, JP finished 4th grade and Mollie finished 7th and we all had a great summer. The last week of August we went to Orlando, FL for our family vacation. While we were in Florida we noticed JP was having these drops again when he was just standing there. He wasn’t laughing, just standing watching TV and would lose control of his head and shoulders.

School started and JP loved his teachers and Mollie was excited being on team 8-2. The second day of school we got a call that JP fell to the ground and hit his head but he has ok. The school nurse asked us if maybe these could be seizures?!?! I called our pediatrician and described what happened. The doctor didn’t think with all the “other” symptoms that JP was experiencing that now he had seizures.

The next morning JP was brushing his teeth in the bathroom getting ready for school and I watched him have about 6 drops with his head and shoulders. At that time, I went downstairs, called in sick to my job and brought JP to Albany Med. He was admitted for four days. The results from the 30 minute EKG showed no seizures but a lot of seizure like activity. JP was then put on seizure meds. We went home and our life had changed. Our son had epilepsy!

A week after getting out of Albany Med we drove to Boston Children’s and this is where our life did change forever! We were given the devastating news that JP has Niemann Pick Type C.

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What were the first steps you took after diagnosis?
 

Facebook became my best friend for a few months. I found families that were already living this nightmare and I reached out to them. We found a family that lost their son to NPC only a few towns away. We talked and listened trying to navigate this new journey we were given.

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What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
 

We heard about the NNPDF and within days of our diagnosis we called them to get information. JP was diagnosed in September so we missed the annual NNPDF conference by a few weeks. We did go to the next family conference in San Francisco. We were nervous going not knowing what to expect. Being there was the best thing we could have done because each and everyone one of us found the support we all needed. We found our people, the people that really understand what life is like living with a NPC child. We saw what our future held for us, we met incredibly strong moms, dads and siblings, and we met some of our best friends! This is our new family and we look forward to the conference each year. NNPDF has helped us connect with families that gave us strength, advice, suggestions and support.

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What changes have you seen in the Niemann-Pick environment over the past 5 years?
 

NNDPF is the glue that keeps this community together. They keep us informed with news, good or bad. They are always a phone call away and help give direction. Every NPC angel has a difficult and bumpy journey they were given. They are special strong people teaching all of us life lessons about love, compassion and perseverance.

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What are your hopes for the future for yourself and for the Niemann-Pick community? 

It has been about 5.5 years since his diagnosis and we have learned a lot. We learned from other NPC families, NNPDF, researchers and doctors. JP is now on medications and vitamins and enrolled in a clinical trial that is hopefully slowing down the progression of the disease. He has now received over 115 treatments and he seems to be handling them very well. JP goes to school 4 days a week and audits all his classes. He has a wonderful 1:1 aide that moves up with him each school year. He attends classes in the morning and in the afternoon does internships. JP loves being around people and talking.

I would love a way that NNPDF could connect our NPC children together on a weekly basis, grouping by age groups. The healthy siblings need support too. I see Mollie, 18 years old struggling with this horrible disease. Watching the children declining year after year, the guilt of them being the healthy one and forced to grow up faster than their friends. Our healthy children have been moved to the back burner, not intentionally. They need has much support and love but sometimes they don’t get it because we are too busy taking care of the NPD child or children. I would love to see this group of special siblings get away from it all, together. Have a respite weekend for just them!

 

INPDR: How to Self Register

The INPDR is a disease-specific registry owned and managed by the International Niemann-Pick Disease Alliance (INPDA) with support from professional partners involved in the care of patients affected by all types of Niemann-Pick disease (ASMD and NPC). The INPDR is a collaboration between clinicians, scientists, researchers and patient associations across the world to collect clinical, genetic, diagnostic and outcome data from patients with Niemann-Pick Diseases (NPD).

The INPDR is a unifying force that has the power to increase knowledge and understanding of Niemann-Pick Diseases (NPD) through the collection of much-needed patient data on a global scale. By enabling appropriate access to anonymized data, the INPDR will encourage efficient and timely diagnosis, improve understanding of disease progression and influence patient care, whilst supporting global research efforts. The active participation of patients from around the world will provide robust data on this rare disease, facilitating the development and recruitment of future clinical studies and supporting access to new and emerging therapies.

Registration is quick and easy!  For step-by–step instructions, click here!

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Rare Disease Day
February 28, 2019
Click here for more information.

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Industry Updates Webinar Series: FEATURING ORPHAZYME
Wednesday, March 6, 2019
8:00 pm EST/5:00 pm PST via Zoom video
CLICK HERE for registration.

Industry Updates Webinar Series: FEATURING CTD HOLDINGS, INC.
Wednesday, March 13, 2019
8:00 pm EST/5:00 pm PST via Zoom video
CLICK HERE for registration.

NPC Patient-Focused Drug Development Meeting
Monday, March 18, 2019 | Hyattsville, Maryland
CLICK HERE for information.

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NNPDF 27th Annual Family Support & Medical Conference
August 15 – 18, 2019 | Bloomington, MN
Registration information coming soon!

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NNPDF In Action


Build-With-A-Bear

Last month the Hilton Rosemont/Chicago O’Hare sponsored a Build-With-A-Bear Workshop and the Chicago Bears in honor of the National Niemann-Pick Disease Foundation community! Thank you Hilton Rosemont for making this happen and for your generous contribution to our Foundation!

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Save the Date!

Registration opening soon! Watch for details…

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Fundraising and Awareness Events

Check out the following recent fundraising event! 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.
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Dillon’s Night  |  January 2019

In memory of Dillon Papier – NPC

The Urbana High School Girls Basketball Game hosted a fundraiser in memory of Dillon Papier (Dillon’s Night) on Jan 31, 2019. The evening began with a student sharing how loved Dillon is by his peers and the community, and how they aspire to live their lives like Dillon with passion, enthusiasm, love and laughter.

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Facebook Fundraisers

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 nnpdf@nnpdf.org 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!

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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.


2/28/2019 jjb
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