Newsletter 2016 #5

Letitia’s Greetings

Welcome to the NZORD newsletter for October 2016.

The NZORD team have settled into our new central office, the location is ideal for the team and we even have full length window branding which in itself draws attention to rare disorders.

NZORD office window 

The team have been really busy planning for Rare Disease Day 2017, with the current focus being the Rare Disease Day poster for 2017. There are more details further on in the newsletter.

The Annual Report is almost ready for distribution, so if you would like a copy, please do get in touch and let us know.

I was honoured to be the guest speaker at Muscular Dystrophy New Zealand’s Freedom Fashion show in Petone recently. This was held in conjunction with MDA’s annual appeal. Please remember NZORD and myself are here to support the rare disease community, and further on in this newsletter you will see the various ways we have been doing this.

Finally, I’m hoping to see as many of you as possible at the NZORD movie evening on Monday 17 October, if you would like a ticket please email: lyndal.bremer@nzord.org.nz.

Best wishes
Letitia

NZORD Movie Night

Please join the NZORD team at Lighthouse Cuba for a screening of “Girl on the Train” starring: Emily Blunt, Rebecca Ferguson, Haley Bennett, Justin Theroux, Luke Evans, Allison Janney, Edgar Ramirez, Lisa Kudrow and Laura Prepon star in The Girl on the Train, from director Tate Taylor (The Help).

In this thriller, Rachel (Blunt), who is devastated by her recent divorce, spends her daily commute fantasising about the seemingly perfect couple who live in a house that her train passes every day, until one morning she sees something shocking happen there and becomes entangled in the mystery that unfolds.

The movie kicks off at 6.30pm and tickets are $20, to book simply email: lyndal.bremer@nzord.org.nz.

Girl on the Train 

Ignite Consultants Team Up with NZORD

NZORD are extremely fortunate to have been one of the charities chosen to work with Victoria University’s Ignite Consultants. The student consultancy started in Wellington last year, after more than five successful years at Otago University. The student consultants work with no more than three non-profit organisations per semester.

Ignite presented their findings to the NZORD team last week, there were some wonderful recommendations for now and for in the future. The NZORD team will be working to implement these over the coming months.

NZORD would like to thank the Ignite team – Nikki, Darryn, Amelia, Grace, Abi and Kerry. NZORD were impressed with what a hard-working and enthusiastic group they were to work with. We feel very privileged that they chose NZORD to work with this semester and we are extremely grateful for all the hard work that went into this project.

All the best for your future endeavours.

Ignite and NZORD crews 

Meet the Poster Child for Rare Disease Day 2017

One month ago NZORD began to search for a poster child to appear on the Rare Disease Day poster for 2017. We advertised on our Facebook page and received eight applications from members of our rare disease community.

We would have been over the moon with any of the gorgeous applicants, the decision was not an easy one, but a decision had to be made.

We would like to introduce Adam Pram. Adam is ten years old and has a rare chromosomal disorder, 1q44 deletion along with a 5q34q35 duplication.

Adam 

SWAN NZ

For the past six weeks we have been welcoming new members to the recently launched SWAN NZ support group.

SWAN New Zealand is a support group for New Zealand patients and families affected by an undiagnosed genetic condition - a ‘syndrome without a name’. SWAN NZ has been established by the New Zealand Organisation for Rare Disorders (NZORD). SWAN NZ has now been running for two months, we have eight members and would like to hear from anyone else who would like to join.

Our next steps are to keep adding any information we feel would be helpful for this group, there are some articles that have been posted to the website.

The NZORD group are in the process of having a SWAN NZ logo designed, it is important for this group to have its own identity.

A SWAN NZ Facebook page has been set up and a Twitter account will be opened in due course. To visit the Facebook page, head to www.facebook.com/SWANNZ/.

We would love some patient stories to add to the website, sharing your story can be a huge help to other people out there struggling without a diagnosis.

If you would like to join SWAN NZ, please visit the recently launched website www.swannz.org.nz and fill in the membership form. SWAN NZ is free to join and is welcoming new members.

Testimonials from Support Groups

NZORD’s Chief Executive Letitia O’Dwyer is very happy to accompany groups to meetings where they feel they need some support.

A recent testimonial from the Prader–Willi Syndrome group:

“It was great to have the support of Letitia from NZORD at our recent meeting with PHARMAC. Prior to the meeting she reviewed our submission, listened to our concerns, and offered fresh ideas which is so helpful for support groups like ours who can feel very isolated. Having someone who knows the system was invaluable, and it was clear at the meeting that Letitia has established good working relationships with PHARMAC staff. We look forward to working with NZORD to achieve our objective of funded growth hormone treatment for all people with Prader–Willi Syndrome"

Sarah McLarin CEO, Prader–Willi Syndrome Association New Zealand.

NZORD and Ehlers–Danlos Syndrome

Ehlers–Danlos Syndrome is a condition where sufferers don't have the genetic ability to make normal connective tissue. This makes sufferers more prone to chronic injuries, painful musculoskeletal dysfunction, and serious systemic problems with multiple organs. As EDS is rare, little is known about the condition by the majority of New Zealand specialists. There are no treatment guidelines in any DHB for this hard to treat condition, and sufferers are usually left without the correct care, and are routinely prescribed treatment that causes harm. This is not only devastating for the patient, but also for medical staff who are trying their best to help their patients without any resources to aid them. Although EDS is incurable, many of these symptoms can be successfully managed. This means patients can live a normal life with reduced pain. Providing the correct treatment at an earlier stage also prevents the need for costly surgical interventions later on. NZORD and EDAO have been working toward establishing a team of specialists with knowledge of EDS to write up guidelines for patient care. We greatly appreciate the time medical staff and specialists are willing to give to this essential project, which will not only improve patient outcomes, but provide medical staff with the tools needed to successfully manage their patients.

Please do contact NZORD with any questions you or your support group may have: enquires@nzord.org.nz.

Auckland University Research Study

Researchers at Auckland University 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.

NZORD have been helping with the recruitment phase of this study, the good news is that the recruitment phase of this study is now completed, Auckland University have 20 participants taking part in the study.

More information about the wider research programme can be found at the link below: www.mindsforminds.org.nz.