June 2019 Newsletter
Message from the Executive Director
Family Support & Medical Conference
Family Advisory Working Groups with Industry Partners
2019 Board of Directors | Thank You Jill Flinton
NNPDF Emergency Hardship Program | INPDA Conference
NPC Perspective | Spotlight | Newborn Screening
Community News | Clinical Trial Update | Advocacy
Upcoming Events | Fundraising & Awareness Events
Families Helping Families | Stay Connected With Us
Dear Friends and Families,
Summer is here and there’s lots of exciting news to share. First, a warm welcome to our new NNPDF Board of Directors – Chrystelle Bougault, Meghann Ferguson, Liz Heinze, and Becky McGuire! Thank you to the nominating committee and Board leadership for undertaking the extensive process to identify these wonderful new volunteer leaders who will join our existing Board leadership. We are already motivated by the new energy everyone brings.
As we continue to grow and strengthen our Foundation here in the US, we also play an important role in the international Niemann-Pick community. Justin Hopkin, Board Chair, and I recently attended the 6th Biennial International Niemann-Pick Disease Alliance (INPDA) meeting. As the US member organization of the INPDA we shared updates and best practices from our community and our family support and advocacy work in the US with our international counterparts, participated in clinical update sessions, and also in planning sessions to shape the vision of the INPDA over the coming years. I am honored to have been elected to the Executive Committee as Vice President of the INPDA. I am joined on the Executive Committee by Lisa Chavez who was elected Executive Communications Officer. We greatly appreciate the support and recognition of our international colleagues.
It’s almost the best time of the year here at NNPDF – Conference Time! We hope your family will be able to join us in Bloomington, Minnesota. In addition to our clinical focused sessions we have added extra family-oriented break-out sessions this year – responding to feedback we frequently hear that more time with others who understand your journey is so beneficial. Have you registered yet? You do not want to miss out!
Did you know we are offering a unique opportunity? The Family Advisory Working Groups with Industry Partners will provide YOU the time to connect with our industry partners. These groups are a way to provide a voice for communication between patients, caregivers and their families, and the pharmaceutical industry to provide guidance on the patient and family experience. Patients and their families are often the most knowledgeable members of the care team, and can offer unique perspectives. You can be a voice of all NPD families providing guidance to pharmaceutical industry partners on your patient and family experience. Up to $500 travel stipend plus one-night hotel is provided for participants in the Family Advisory Working Groups. Space is limited and you must apply to participate! More details can be found here.
On July 1st, we launch the NNPDF Emergency Hardship Program to help member families facing a crisis. This program provides relief to members facing a situation that threatens their immediate health or safety or that causes a terrible hardship. We hope to provide short term financial assistance in a crisis situation. As always, Laurie Turner, our Family Services Manager, is available if you have any eligibility questions or need help with the application process: email@example.com. Find more information about the Emergency Hardship Program here.
I look forward to seeing you at our Family Support & Medical Conference in Minnesota this August!
Joslyn Crowe, MSW, MA
NNPDF Executive Director
August 15 – 18, 2019 | Bloomington, MN
Good news! We’ve extended our reduce rate registration to July 8th! We hope you’ll join us! Early registration gets you the discounted rate and your name in a drawing for a gift from the NNPDF Store!
Special hotel rates are being held for conference attendees until July 24th and are going fast! Reserve your room today before they are gone!
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.
Understanding your perspectives as patients and caregivers affected by Niemann-Pick Disease is of utmost importance to our Industry partners. 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.
Family Advisory Working Groups will take place prior to the Conference on August 15th from 10:00 am – 3:00 pm. Participants will receive up to $500 reimbursement for travel per participant 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 firstname.lastname@example.org.
We are very pleased to introduce your 2019 NNPDF Board of Directors. Each of these individuals have been personally touched by Niemann-Pick Disease, strengthening their commitment to serve the NPD community in this volunteer capacity. Each are highly motivated bringing knowledge, energy and expertise for the benefit of all affected by this devastating disease. Welcome! We look forward to working with you and your valuable contributions.
CLICK HERE to read the their personal statements of commitment to serving on your NNPDF Board of Directors.
The NNPDF would like to recognize and thank Jill Flinton for her dedication and many years served as an NNPDF Board Member. Jill’s knowledge and background as a CPA, has been a great asset to the NNPDF in her role as Treasurer. As Jill’s term on the board comes to an end, please join us in thanking her for all the work that she has done for the betterment of the foundation and the community it serves. Thank you Jill!
The NNPDF Emergency Hardship Program will become available July 1st.This program will offer 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.
NNPDF was one of the Niemann-Pick Disease member organizations from across the world that recently met at the 6th Annual International Niemann-Pick Disease Alliance (INPDA) conference in Lyon, France. It was a great opportunity for the global Niemann-Pick Disease community to strengthen its ties, hear clinical updates and discuss progress in moving forward together as a united community.
Congratulations to the newly elected leadership of the INPDA:
President: Sandy Cowie (Canada)
Vice President: Joslyn Crowe (USA)
Executive Secretary: Toni Mathieson (UK)
Executive Treasurer: Isabel Hontanilla (Spain)
Executive Communications Officer: Lisa Chavez (USA)
By Debbie Kaflowitz
Mother of Rachael (06/21/1985 – 10/25/2018) NPC
The Long, Long, LONG Road to Diagnosis
Last month, as part of an NPC Adult Onset Series, I shared our reaction to our daughter Rachael’s diagnosis of NPC at age 27 and our first trip to an NNPDF Family and Medical conference. Dealing with an NPC diagnosis when your child is on the brink of adulthood comes with different challenges than infantile or childhood onset. Adult onset also comes with unique diagnosing challenges, which I will be sharing in this article. I encourage you to share this article with anyone in the medical field that you feel could benefit from this information, so together we can continue to educate others about this rare disease affecting many undiagnosed patients and their families, especially those with adult onset.
Almost everyone in the Niemann-Pick community has a story about their long journey leading to the correct diagnosis for their loved one. Most of the infantile and childhood onset families I know, started their journey when a doctor noticed an enlarged spleen. Loss of cognitive ability, clumsiness, and seizures also sent many children’s parents looking for an answer. However, adult onset cases often do not present in this way. My daughter Rachael’s spleen was never enlarged enough for any doctor to notice. Even during her two month stay in the hospital before she passed, with every part of her body being checked, nobody ever mentioned the word spleen. Rachael also never had a seizure, as is also the case with most adult onset.
Many adult onset patients first present with a mental health issue, such as a psychotic breakdown, bipolar or schizoaffective symptoms, anxiety, or depression. All these words were used to describe Rachael over the course of eleven years. While a few parents never saw anything psychological, the majority of people I know had the same experience we had. These diagnoses are important because you must treat these symptoms. However, if nobody realizes there is an underlying cause, the search for anything else stops. Delays in disease diagnosis is critical due to the progression of symptoms related to NPC. Many symptoms can be postponed and better managed through early diagnosis with physical, occupational and speech therapy. We are also making great strides towards FDA approved treatments, which will make early diagnosis even more important.
Once someone presents with a psychotic breakdown, a bipolar episode, depression, or anxiety, the search for the right medicine begins. Given the number of different medications available, the variety of doses possible, and the possible side effects, finding an effective medication for any one person can feel like looking for a needle in a haystack, especially for someone like Rachael who was extremely sensitive to medications. The same drug can affect people differently. What stabilizes one person, might make another manic. In the field of mental health, I would compare the task of finding the right medicine to the math strategy of “Guess and Check,” which I taught to my elementary school students. The doctor makes an educated guess about which medicine to try first. You start at a small dose to make sure there isn’t a dangerous reaction. Then you wait to be able to check your findings. Sometimes you get lucky and see a change fairly quickly. However, more often than not, it takes a good month to figure it out. You spend weeks wondering if nothing is happening because that medicine isn’t ever going to work or because your loved one needs a higher dosage to reach the drug’s therapeutic level. To make it even more difficult, often a cocktail of medications is needed. Frequently we would try a medication and find that Rachael got better, but was not stable. That meant adding another medicine and starting the waiting game again. This process can go on for weeks, months, and in Rachael’s case, years.
Rachael had four long term hospitalizations to try to stabilize her, three 8 week stays in different local hospitals and one 8 week stay in Payne Whitney, which is part of New York Presbyterian Hospital. During Rachael’s stay at Payne Whitney, Steve and I moved to NY for eight weeks to be near her. Luckily, Steve could work by computer. As a teacher, I had a substitute, and I spoke to her daily. Rachael never came out of those hospitalizations fully stable. Her own psychiatrist would continue to tweak the medication to get her as close to stable as possible. However, usually within 6 months or so, everything would fall apart again.
Why? Because we were putting a bandaid on a much bigger problem.
Other symptoms started to appear, but we still didn’t look any further than the mental illness and the meds. Rachael started to be unsteady on her feet. That can be a side effect of lithium. Sometimes she had trouble swallowing. That can be a side effect of risperdal. However, her cognitive ability was decreasing. Was that from the medicine? That part was a mystery. Teachers in school kept telling me that “the gap was getting wider,” seeing only that Rachael’s peers were passing her by. They did not seem to see that the reason the gap was getting bigger was that Rachael was actually LOSING ground; she was no longer able to do things she had been able to do a year earlier.
Rachael’s cognitive abilities declined more and more. This was very scary, and nobody had any answers. Her psychiatrist now thought that either Rachael had two illnesses, one causing the emotional symptoms and one causing the physical ones or that Rachael was not bipolar, psychotic, or schizoaffective, but was suffering from a different illness that was causing all the symptoms. He also guessed it was a rare, genetic disease.
When Rachael’s doctor attended his yearly psychiatrists’ conference, he purposely went to a session called “Genetic Illnesses that Mimic Bipolar.” He called me from the conference saying they had just described Rachael, and he was finding a doctor for us to see. We saw a doctor in Philadelphia who diagnosed Rachael in about five minutes. He did have some help. Both Rachael’s psychiatrist and I had sent him letters explaining our observations. The doctor later admitted he was pretty sure Rachael had NPC before we even got there. He talked to us, watched Rachael walk, and then tested Rachael’s eye movements. That was the clincher, vertical gaze palsy. The only thing left was confirmation through a blood test.
We know there are many undiagnosed adults. According to a study, using the International NPC Registry, published in April, 2019, “Out of 386 NPC patients included in the registry as of October 2015, psychiatric abnormalities were reported to be present in 34% (94/280) of those with available data. Forty-four patients were confirmed to have identifiable psychiatric manifestations, with text describing these psychiatric manifestations. In these 44 patients, the median (range) age at onset of psychiatric manifestations was 17.9 years.”
For us, nothing would have been available to help Rachael if we had known about NPC earlier. However, with several possibilities available now and more research being done, knowing the diagnosis as early as possible is crucial. As we learn more about adult onset, educating psychiatrists becomes more and more important.
The Poincilit’s are a wonderful family who live in Switzerland. They had 3 children with NPC. Sadly, they lost their son, but their two daughters are still fighting the disease. Click here to view the video “Forgotten Youth,” the story of their oldest daughter Alix.
Topics you would like featured? Email me at firstname.lastname@example.org.
Mother of Tyler (03/30/97 – 12/26/05) NPC, Katie (11/21/01 – 1/22/2016) NPC, & Faith (9/4/03 – 7/22/2018) NPC
Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
Hi I am Liz Heinze and my husband Tim and I have four beautiful children. I am a Patient Care Tech on a medical/surgical unit at a local hospital. I am currently working at finishing my degree in pre-nursing and hope to apply for the nursing program soon.
When did receive your diagnosis? What led you to diagnosis?
Our oldest son Tyler was diagnosed with NPC in January of 2003 at the age of 5 1/2. At the time of diagnosis I found out that I was pregnant with Faith which is our fourth child. After she was born she had complications with gaining weight and with the intestine surgery came testing for the NPC gene and in January of 2004 at 5 months old, Faith was diagnosed with NPC. The family needed a break from all the news and so we waited a few months before having our second oldest Serina and our third child Katie tested. With this came the diagnosis of Katie at the age of 3 1/2 years and the news that Serina is a carrier of the gene.
What were the first steps you took after diagnosis?
After each diagnosis we worked to keep life as “normal” as possible. Especially for Serina who is now pursuing a degree at the University of Central Florida and we just loved our kids through each step of a devastating disease. We treated each symptom and researched each new treatment and trial available.
How did you learn about the NNPDF?
I contacted the NNPDF for any information I was able to get my hands on.
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
I joined what was called the Niemann-Pick List Serve shortly after diagnosis and was able to follow other family’s stories and ask many questions and truly get to know others dealing with the same issues we were. We lost Tyler on December 26, 2005 and took peace in the fact that the community was there to offer condolences and support. Katie passed January 22, 2016, and Faith went to join big brother and sister July 22, 2018. In 2007 we were able to attend our first of many Family Conferences and we have only missed one year since. I love the feeling of being in a place where everyone understands what the other is going through and that we can all lean on each other. I have enjoyed volunteering my time at each of the conferences since 2010 and look forward to meeting the new families and giving more to the community.
What changes have you seen in the Niemann-Pick environment over the past 5 years?
We have seen many changes in the past few years. Some good and some scary, but change can be scary, and I look forward to what the foundation has in store for our future.
What are your hopes for the future for yourself and for the Niemann-Pick community?
I am excited to be a board member and hope to be a positive addition. I would like to have more personal interaction with the community and to be an ear to listen and offer support to those fighting for a cure, and to those who have lost their loved one. We need to bridge the gap to be a shoulder for all in every step of the process.
On Tuesday, June 25, the US House of Representatives Health Subcommittee held a legislative hearing to discuss the reauthorization of the Newborn Screening Saves Lives Act, HR 2507. This bipartisan legislation reauthorizes federal activities that assist states in improving and expanding their newborn screening programs, supporting parent and provider newborn screening education, and ensuring laboratory quality and surveillance. Without reauthorization, these programs will expire at the end of Fiscal Year 2019.
Led by the Firefly Fund, the Niemann-Pick C community launched a newborn screening initiative two years ago to add NPC to newborn screening lists nationwide. The NNPDF has joined this initiative’s working group that is on a path to accumulate the data and information needed to support a successful application to include NPC on the federal list of recommended diseases screened for in state public health laboratories.
Today, 49 states and the District of Columbia screen for up to 35 recommended conditions. Adding NPC to the list is critical so that every family has a chance to know sooner about their child’s diagnosis and discuss with their doctor the best plan for possible earlier intervention.
But before we can add NPC to the federal list, we must ensure that the underlying federal legislation supporting this essential public health program is reauthorized. Members of Congress need to hear from our community, letting them know how important it is to screen for NPC at birth and eliminate the long and arduous diagnostic odyssey that so many families travel on the way to a proper diagnosis.
We Need Your Help! Please click this link and see how easy it is to email your member of Congress and ask him or her to cosponsor this legislation. Become a Newborn Screening Advocate today!
Amicus Therapeutics and the University of Pennsylvania Announce Major Expansion of Gene Therapy Collaboration
Amicus Therapeutics and the UPENN Gene Therapy Program (GTP) have recently announced the expansion of their ongoing gene therapy research and development collaboration, adding the lysosomal disorders of Niemann-Pick Type C. Click here for complete announcement.
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 closing on $7.4 million private placement. Click here for complete announcement.
Update from IntraBio:
IntraBio share update on IB1001 drug series in NPC. Click here for complete announcement.
Update from Orphazyme:
Orphazyme to prepare for filing of Arimoclomol in Europe for NPC. Click here for complete announcement.
Institute for Clinical and Economic Review (ICER)
NNPDF recently supported a coalition letter, led by the Haystack Project, in response to the Institute for Clinical and Economic Review’s (ICER) national call for suggestions on how to improve its value assessment framework.
Haystack Project is a non-profit organization enabling rare and ultra-rare disease patient advocacy organizations to coordinate and focus efforts that highlight and address systemic reimbursement obstacles to patient access.
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!
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.
Judy Desouza will be hosting a Yankee Candle fundraiser in memory of her daughter, Bryanna (NPC) and in honor of all Niemann-Pick Disease families. Judy, in working with Yankee Candles, will dedicate 40% of profits from both local and online orders to the NNPDF. This fundraiser will begin July 11th and run through January 8, 2020. Click here for complete details.
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?
14th Annual Dillon Papier Bowie Baysox Benefit was recently held in Maryland
Urbana High School Girls Basketball Fundraiser in memory of Dillon Papier
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.