Newsletter 2016 #3
Welcome to the NZORD newsletter for June 2016.
It has been a busy few months. I have just returned from attending the Eurordis conference on Rare Diseases and Orphan Drugs (ECRD) in Edinburgh. The theme was "game changers" and there were many fantastic outcomes that will benefit NZORD and our patients and families.
One outcome is New Zealand joining Rare Connect, this is an exciting opportunity for NZORD, there is more information on Rare Connect further on in the newsletter.
All the best for the upcoming months and keep warm.
Eurordis Conference 2016
Change in contact details
We have noticed recently in the support group directory that some group's contact details are no longer correct. If your contact details do change, please drop us a line so we can ensure your support group listing is up to date.
If you do have changes, please email Ben on firstname.lastname@example.org.
Folic Acid Fortification
Bread industry makes some progress with folic acid fortification and NZORD continues to advocate for more progress
Many of you will know that for the past 15 years NZORD has supported the fortification of a staple food (such as bread) with folic acid. Folic acid fortification occurs in over 70 countries (including Australia) and it has proven to be a safe means of improving maternal health and substantially reducing Neural Tube Defects (NTDs).
NTDs are serious birth defects. About 30 pregnancies a year in New Zealand are terminated because of early diagnosis of an NTD, and about 6 births (this includes live births and still births) in every 10,000 births are affected in New Zealand (based on data from the New Zealand Birth Defects Registry from 1996- 2013). There is no known cure or standard treatment for anencephaly, with most babies not surviving to birth and almost all live babies dying shortly after birth. Spina bifida outcomes are better, but it is a serious condition (for example, the hospital care costs alone are over $1,000,000 per spina bifida patient in their first 20 years.
Please click here to read the remainder of the update.
NZORD have been very aware of the increasing number of enquiries from patients and their families who have not yet received a diagnosis for their condition.
NZORD is in the process of setting up a Syndromes Without A Name NZ (SWAN NZ) website. If anyone out there has a story that they would be happy to share on the website, we would love to hear from you, please email to email@example.com.
Whilst in Edinburgh at the ECRD conference, Letitia met up with Lauren Roberts who is the National Coordinator for SWAN UK (see picture below). Lauren had some good ideas around setting up SWAN NZ.
NZORD would like to especially thank Heather Renton (President of SWAN Australia) for her valuable feedback and advice in developing this project.
NZORD will let you know when the SWAN NZ website is live.
Connecting Rare Disease Patients Globally
RareConnect was created by EURORDIS (European Rare Disease Organisation) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources.
This multilingual online platform provides disease-specific communities endorsed by over 700 of the world's leading patient organisations. Your patient organisation can also partner with us in creating a global community for your disease.
BE PART OF A GLOBAL COMMUNITY
People living with rare diseases and their families often feel alone or isolated. RareConnect aims to break this isolation by creating a secure environment, moderated by over 300 trusted, trained and supported patient representatives. Your patient groups can be part of it.
BENEFITS OF JOINING
- Be part of a growing worldwide community of over 100,000 monthly visitors.
- A unique opportunity to connect with people with rare diseases worldwide and across the language barrier.
- Free human translation service so that the information exchanged is accurate.
- Patient relevant information and patient focused community that is moderated by representatives from trusted patient groups.
- Stay up to date with research and treatment updates from around the world.
Get started today. Email us; firstname.lastname@example.org.
Photo below of Letitia and Robert Pleticha from Rare Connect.
University of Auckland Study
Researchers at the University of Auckland are leading a study to uncover DNA changes responsible for rare neurodevelopmental disorders that have not been explained through standard tests. They plan to apply revolutionary new DNA sequencing technologies to obtain a genetic diagnosis for participating families and demonstrate the benefits of routine clinical use of this technology in New Zealand.
They are currently looking for families who have a child (or children) with an undiagnosed neurodevelopmental condition with an accompanying intellectual disability. Participants need to provide a DNA sample (saliva or blood). This study is approved by the Northern B Health and Disability Ethics Committee, reference 12/NTB/59 and is part of a larger project investigating the genetic underpinnings of neurodevelopmental disorders in New Zealand. More information about the wider research programme can be found at: www.mindsforminds.org.nz, or by way of the contact below.
If you are interested in participating in this research project please contact the research team directly – Whitney Whitford at: email@example.com.
Williams Syndrome NZ's new website
NZORD's webmaster Ben Chapman has been busy these past few months. One of his completed projects is the Williams Syndrome NZ website for the Williams Syndrome support group.
The website looks wonderfully clear and concise, the photographs are delightful.
If you would like to visit head to www.williams-syndrome.org.nz, you won't be disappointed.