Once identified, families began understanding MJD and losing feelings of shame, realising no one was to blame. Yet, knowing did not stop feelings of grief and sadness for the loss of family members, loss of their own independence, worrying about the burden they would place on family and worrying for those in the family yet to find out they too had MJD.
And I want to work , like some of the strong people , they work. I want to be like them. Family members without MJD reported struggling with the knowledge that some in the family have MJD while others do not, wishing the disease on themselves rather than watching family suffer. They recognised that the support provided by the MJDF for individuals and families today, was far greater than 30 years ago, reducing the burden on their family, promoting awareness and reducing stigma.
Now I sit here today , and I am proud. Rather than dwelling on their sadness, participants reported focusing on living a happy life as long as possible. Finding ways to avoid or delay the impact of MJD offered a pro-active way of protecting themselves and their families from the disease. For some, this meant hiding away, not engaging with family or services or ignoring associated medical problems. Others preferred not to talk about the disease, fearing being treated differently.
Family members without the disease also found MJD difficult to talk about, preferring instead to talk about how they were helping their family to live a happy life. When finding out they had MJD, some participants immediately wanted to do something about it, to protect themselves and prepare for the journey ahead. Some acted early, before symptoms became apparent while others waited until forced to act, once walking had become difficult.
So , I started playing sport again , playing footy , and doing more work… like doing my gardening things , like landscaping , like digging , raking , lawn mowing , putting in new plants you know. Participants stressed the importance of ensuring young people learned about MJD, so they could have time to prepare for the onset of disease and for a meaningful future. Participants spoke about adjusting their lives once walking and moving around and participating in work and family roles were becoming challenging.
I might , you know. Adjusting to life with MJD would often mean using mobility aids and accepting help from others. Adjusting could also mean managing consequences of the disease, such as bladder and bowel dysfunction, fatigue, cramps, falls, pain, and other illnesses such as colds, flu and infections.
Nevertheless, participants found ways of adjusting, ways of pushing themselves to move around the community to do what was important to them, calling on support or trying new ways of doing things. Being able to keep walking and moving around was perceived as extremely important by all participants because it enables individuals and families with MJD to do what matters most to them in their lives. Doing so was helping families protect themselves as the disease progressed, enabling them to manage challenges along the way.
And because I love doing all those things. Exercising your body. Riding the exercise bike, walking on a treadmill or doing leg and arm strength training was considered a way of complementing an active lifestyle. Keeping the body moving every day, with more strenuous exercise at least once a week, was recommended. Participants felt that sitting or sleeping too much caused faster disease progression. Sadness was expressed about others where shame or embarrassment was preventing them from exercising.
Family members reported feeling proud seeing their loved ones exercising and working hard to keep walking and moving around. To stay active as the disease progressed, participants found ways of making walking and moving around easier. This included taking your time, moving in cooler parts of the day, eating and sleeping well as well as using assistive devices, transport and home modifications.
Those who are wheelchair bound were trying to keep exercising in sitting or seeking more physical help to move. With increasing severity of disability, exercising your body could mean relying on support from families and services to keep moving around the community. Something important to do. Participants felt that having something important to do was forcing those with MJD to keep moving and to stay physically strong.
Having something important to do offered a way to contribute meaningfully to family and community, and to keep feeling strong on the inside. Something important could mean a paid job, hobbies, playing sport, studying, being a parent, or keeping up with caring for yourself and your home to support your family. Participants advocated that those at risk of having MJD, especially children, should get an education, find a job or something important to do for their future, to make sure they have a reason to push themselves to keep walking and moving around.
You have to get up and prepare for work. You have to get ready for work… You have to prepare for everything you know. Like if you are going out there pointing out at the community , you have to get moving to get there. Being unable to work due to progression of the disease caused some participants to worry about getting worse faster. Participants felt that they gained inner strength by pushing themselves and setting an example for their family and others. So I can show my kids or families… and they can respect me…love me…so when after , when I pass away from this disease…When this disease gets worse and worse and worser than me…they can talk to people about this sickness.
Keeping yourself happy. Feeling happy and positive was a way participants felt they could keep persevering in life despite having MJD and how families could continue supporting them. Feeling depressed and worried could provoke feelings of physical weakness and reluctance to move around.
Exercising your body, relaxing, having fun, listening to music, doing or watching dancing and managing health issues were also considered to be beneficial. For those not ready to accept help, continuing to offer them support was important so the person could feel happy in knowing help was there if they needed it.
Searching for good medicine. A belief is shared by many participants that a cure for MJD is undiscovered somewhere in the country around them. Searching for the cure, for some, was a great motivator for keeping walking and moving around. Medicines from the clinic could also help and were often used together with bush medicine. As high levels of mobility are required, gathering bush medicine for those no longer physically able provided ways for families to support those experiencing disability resulting from MJD, who in turn, felt supported by family.
Families helping each other. Family support is provided in different forms, varying according to the individual, the family and the stage of MJD. For some, physical assistance from family to move around the home safely, was helping them stay strong on the outside.
For others, having families visit and stay with them was offering social support, helping them feel strong inside. All participants recognised the importance of having help from family, from their own experiences of caring for other family members with MJD.
Family members undertook carer roles without need for discussion, just knowing to be there at the right time. Individuals lacking family support drew heavily on these services. Going country. The term refers to the lands where there is a shared traditional and spiritual connection through stories and knowledge from ancestors, and the people, animals, plants, earth, rocks, water, air, songlines and dreamings of these lands.
Going country meant getting out and about, to places meaningful to the individual, to do things things that matter, with people that matter. Going out looking for bush medicine. Moving around. I know that it is really important to me and those people with MJD.
They should keep going out to the bush. Get those yams. Get those sugar bags , fishing. It is very important for us , with this disease…Because being on country you know… it helps us feel stronger…it makes me feel strong , inside it makes me strong.
For example, difficulties with toileting led to people feeling like a burden or embarrassed if reliant on others. Supporting family to go country could be hard due to problems accessing a vehicle, time spent fulfilling responsibilities to other family members or accessing services in the city.
All felt emotionally low when unable to go country. The aforementioned strategies or lifestyle practices reported by participants contribute to the framework for staying strong on the inside and outside, and were perceived to provide individuals and families with MJD the best chance to keep walking and moving around as long as possible. Despite the challenges of the disease, no one was willing to let it overcome them.
This is the first study to explore perspectives of individuals and families with MJD, on walking and moving around. Walking and moving around were considered essential to do what matters most in life. To keep walking and moving around, regardless of level of disability, staying strong on the inside and outside was thought to work best. It is proposed that these strategies provide a framework for staying strong that can inform service delivery.
The impact of MJD as described in this study, includes knowing and learning about the disease, long before symptoms are recognised, or a positive genetic test recorded. Participants described how the family is continually living with the impact of MJD over the generations, similar to the experience of those with other hereditary neurodegenerative diseases [ 28 ]. Yet, rehabilitation services for this population have typically focused on the individual, rather than families, and commence after onset of symptoms [ 29 — 31 ] when adjusting to life with the disease may be the only alternative [ 28 , 32 , 33 ].
The experience of MJD described in this study aligns closely with the biopsychosocial Family System Genetic Illness FSGI model [ 34 ], which recognises the ongoing impact on individuals and families along the life cycle and phases of genetic disease [ 35 , 36 ]. Services designed to support individuals with MJD therefore, need to provide appropriate and ongoing access to information and support. Opportunities for participation in rehabilitation for both individuals and families with MJD are also necessary to minimise the impact of MJD on their lives.
Individual autonomy is of central importance across many cultures [ 37 ], with strong links to health and well-being [ 38 , 39 ]. For Aboriginal and Torres Strait Islander people in Australia, lack of respect for autonomy has led to resistance to external control and avoidance [ 40 ]. Hence, culturally-safe, person-centred care [ 41 , 42 ] that enables individuals and families to make informed decisions [ 39 , 43 ] is essential. Staying strong on the inside and outside means choosing strategies that simultaneously address both physical and psychosocial well-being.
While this aligns with holistic conceptualisations of health fundamental to Aboriginal and Torres Strait Islander people [ 44 ], it is also consistent with the views of other individuals with ataxias, who have advocated for person-centred interventions for physical and psychosocial well-being [ 45 , 46 ].
The International Classification of Functioning, Disability and Health ICF provides a holistic framework to guide assessment and planning to ensure services for families with MJD [ 47 ] are inclusive of evidence-informed physical [ 48 , 49 ] and psychosocial strategies to promote mobility.
In this current study, the framework for staying strong on the inside and outside, as described in the results, is reflective of a strength-based approach: both personal and environmental strengths relevant to the context are drawn upon to find solutions. One unusual feature of SCA and many other expanded repeat diseases is a phenomenon called anticipation , in which the signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next.
This is due to the tendency for the expanded repeat mutation to further expand when being passed to the next generation, especially when passed from the father. Physicians diagnose SCA through various neurological tests and by taking a family history of any disease.
They ask detailed questions about family members who show or showed symptoms of the disease, the kinds of symptoms seen in these relatives, the age s of disease onset, and the progression and severity of symptoms. Neuroimaging, using computed tomography and magnetic resonance imaging, can show atrophy of the cerebellum and other brain structures. Other forms of imaging can show changes in brain function. A definitive diagnosis of SCA can be made only with a genetic test.
Genetic testing can confirm mutations of a known gene to cause SCA. Those individuals who are at risk for MJD or another SCA for example, those who have an affected parent but do not have any symptoms can undergo presymptomatic testing to determine whether they carry the gene mutation and therefore will likely later develop the disease.
Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing. For more information on genetic testing, see MedlinePlus: What is genetic testing?
There is no definitive treatment to cure SCA or slow its progression, but some symptoms of the disease can be treated. Ongoing research includes efforts to better understand the genetic, molecular, and cellular mechanisms that underlie repeat expansion diseases related to SCAs including MJD, and other abnormal triplet repeat expansion diseases. Overlapping mechanisms may be involved in triplet repeat disorders such as MJD, regardless of whether or not the repeat is in a protein-producing or coding region of the gene.
Modifications of the mutant protein can impact toxicity, which may explain why some triplet repeat diseases have onset later in life. Clinical trials include investigating treatments for SCAs including MJD, identifying biomarkers signs that can be used to diagnose a disease and monitor its progression , a natural history study of and genetic modifiers in the SCAs, and developing a patient registry for rare diseases, including the SCAs, to allow individuals with these disorders and researchers to connect as easily as possible to help advance treatments and cures for rare diseases including the spinocerebellar ataxias.
Other research includes work to better understand the molecular mechanisms involved with SCAs, improve current diagnostic procedures, and develop disease-modifying and other therapies for the spinocerebellar ataxias. Box Bethesda, MD National Aphasia Association P. Box 87 Scarsdale, NY naa aphasia. NIH Publication No. We manage this for our clients to ensure that your business critical devices are kept under warranty during their usable lifetime.
This will depend on how critical the device is to your core business, for example your server would be highly recommended to have a quick response time as this will have a higher number of users relying on this device to carry out their work activities.
Whereas a PC or laptop may be enough to have a next business day response as you could potentially use another device while waiting for the warranty call. This way you can help to ensure you get 5 years or more out of the lifetime of your device, some servers are able to be extended up to 8 years thus reducing the need for new devices and the disposal of old IT equipment.
Home Services. Why should I keep my device under warranty? Published: 15 January Written by Natalie Dunscombe.
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