World-first study puts research spotlight on neglected neuromuscular conditions

In a World - first, AN Auckalnd University of Technology (AUT) research team has embarked on a country-wide study of the prevalence and impact of genetic muscle disorders.

 

Ronelle Baker, acting chief executive of the Muscular Dystrophy Association of New Zealand

 

 

The MD-Prev Study, which AUT is carrying out in partnership with the Muscular Dystrophy Association of New Zealand (MDA) and the New Zealand Neuromuscular Disease Registry, and with funding from the Health Research Council of New Zealand, aims to help create brighter futures for those affected by genetic muscle disorders.

 

It is currently not known how many New Zealanders live with genetic muscle conditions, which affect males and females of all ages and ethnicities, including Pacific and Māori. Study lead Dr Alice Theadom, a Senior Research Fellow at AUT’s National Institute for Stroke and Applied Neurosciences, sees this void of information as a major obstacle to improving the prognosis and quality of life of individuals and their families who are affected by these disorders.

 

“Genetic muscle conditions are far less prevalent than others such as cancer and cardiovascular disease. Yet they can be devastating for those diagnosed and their families, and desperately need research attention,” says Dr Theadom.

 

Genetic muscle disorders are characterised by a variety of symptoms, but they all involve muscle weakness, can include heart and lung problems, and in some cases can reduce life expectancy. The severity of symptoms varies across the different disorders, 19 of which are being investigated as part of the MD-Prev Study.

 

“This study will provide an important evidence base that can be used to inform necessary developments in health services for these families. Establishing how many people are affected, and how, is vital to securing health care funding, making appropriate medication available and advancing the effectiveness of the treatment services provided,” says Dr Theadom. “Without this knowledge, it is near impossible to be able to resource services appropriately.”

 

RESEARCH THAT COVERS ALL BASES

 

AUTs Dr Alice Theadom, lead researcher of the MD-Prev StudyDr Theadom’s nation-wide team ultimately hopes to gain insights from everyone in the country with any one of the genetic muscle disorders included in the three-year study. It’s an ambitious goal, but one that has the potential to improve the lives of countless New Zealanders.

 

“We’re out and about in the community conducting assessments and getting the vital information we need to make headway in effecting positive change for people living with genetic muscle conditions, and their families,” says Dr Theadom.

 

“We have a wonderful team of healthcare providers across New Zealand supporting us and advising on the study – from neurologists, psychologists, people from the MDA, physiotherapists, occupational therapists, paediatricians and more. Everyone who needs to be there has jumped on board to support this initiative.”

 

“Nothing like this has been done before, so we’ve had a lot of interest from the international neurological community.”

 

“What’s happened previously is that studies have only looked at how many people are affected purely by the number of people who seek treatment by medical professionals at hospitals,” says Dr Theadom.

 

Dr Theadom also adds that there are significant regional variations in terms of access to general services.

 

“A lot of people don’t feel well-served by healthcare services, and they may not necessarily be in contact with a medical professional or a support organisation for a variety of reasons – we’re really keen to hear what these reasons are to help us identify ways in which New Zealand services can improve, and so that people can feel that they’ve got an outlet that they can go and seek support that’s relevant to them,” says Dr Theadom.

 

The research team is also careful to avoid bias of its results by not hearing from a range of people who have a depth of experiences with genetic muscle conditions.

 

“We don’t want to overemphasise or underemphasise the realities of living with these disorders. As symptoms can be so variable, we hope to hear from those who are managing well with few symptoms, as well as from those who are more severely affected.” says Dr Theadom.

 

“We want to hear from everyone, from different cultures and especially our Māori and Pacific communities, so we can build a really informed, accurate worldview of MD prevalence in New Zealand.”

 

Ronelle Baker (Ngāti Porou, Tainui), Acting Chief Executive at the Muscular Dystrophy Association of New Zealand says this research is hoping to unearth positive stories too.

 

“We want to know what’s working well. We don’t want to just look at the deficit model. We’re looking for those positive experiences to help us understand what strengthens and supports people, so that we can develop these aspects of our families and communities,” says Baker.

 

RESEARCH TO MAKE A DIFFERENCE

 

Ronelle Baker knows too well the impacts of living life with a neuromuscular condition. Diagnosed with Facioscapulohumeral muscular dystrophy (FSHD) at eight years of age, Baker is third generation in her family to live with MD.

 

“I’ve noticed technological advances and improvements in health and disability services over many years now, but there has always been a significant gap around estimating the prevalence of MD in New Zealand,” says Baker.

 

“This work is finally going to help us to understand the New Zealand experience so we can better advocate for, and reach all people living with MD conditions.”

 

WHAT DOES THE AUT MD-PREV STUDY AIM TO FIND OUT?

  • How many people are affected by genetic muscle disorders in New Zealand
     
  • How these conditions impact on the person and those close to them
     
  • What support affected people receive and what else is needed.

 

“The partnership with AUT has given this study the credibility and the robustness it needs to enable outcomes and solutions that will be more readily accepted by the academic, medical and scientific communities. This buy in is crucial to making a difference.”

 

HEAR FROM OUR PARTICIPANTS

 

Samoan-born, New Zealand-raised Tim Vogel has registered as a participant in the MD-Prev Study as someone who lives with limb girdle muscular dystrophy, and encourages anyone who has a genetic muscle disorder being investigated by the MD-Prev Study to get involved.

 

“It’s important for everyone to be aware of what MD means to people living with it, and their friends and families,” says Vogel. “The more aware we are, the better we can understand how to cope.”

 

“It’s great to see the MDA and AUT work together on this so that we can finally have the information that is really needed to introduce the right support services in New Zealand.”

 

“MD affects people in so many different ways – there’s no one-size-fits-all approach that works, so this research will be a real mind-opener, an education piece of sorts, to what it’s like for everyone directly or indirectly impacted by MD.”

 

Denise Ganley, another MD-Prev study participant who lives with MD agrees: “We don’t often have the opportunity to participate in research of this type so I think it’s vital that we do when it is offered,” says Ganley.


 

“It was interesting to take time out to reflect on just how this condition does impact on my life, and the life of those around me.”

 

AUT MD-PREV STUDY: WHAT’S INCLUDED?

 

The genetic muscle disorders included in the MD-Prev Study are: 

  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
  • Congenital muscular dystrophy and myopathies
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb girdle muscular dystrophy
  • Myotonic dystrophy
  • Oculopharyngeal muscular dystrophy
  • Distal muscular dystrophy
  • Myotonia congenital
  • Paramyotonia congenital
  • Central core disease
  • Pompe’s disease
  • Nemaline myopathy
  • Myotubular myopathy
  • GNE myopathy
  • Periodic paralysis
  • HyperCKemia
  • Manifesting carriers of muscular dystrophy

 

GET INVOLVED

 

Participants can take part by completing an assessment of the impact of their own and/or their significant other’s condition. People can register themselves or be referred by a health care professional for the MD-Prev Study, which is funded by the Health Research Council of New Zealand, by telephoning 0800 MDPREV (637 738), texting 021 245 8597, or emailing mdprev@aut.ac.nz
 

 

 

 

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