So, guess what? I never posted my notes and take aways from the conference last year. With this year’s symposium kicking off next week, there’s no time like the present. I know we discussed some of the fun highlights of the trip, but I’ll follow up this post with anything that might have been left out from our amazing trip.
The scientific conference didn’t start until Wednesday, so we joined in on a few sessions with the International Alliance of ALS/MND Associations which is always like a fun, family party. We were able to meet some local families living with MND. This is also when we introduced Flat Gudjon and shared him with everyone. More on that soon.
Not only is Bronson fun to look at but he actually knows a thing or two about medicine so this scientific conference was right up his alley. We divided our sessions, his more technical and specific and mine more patient centric. Occasionally our sessions overlapped which allowed for continued conversations. Carlie attended sessions where she found interest, and mostly enjoyed the warm Australian sunshine until her caregiving was required. Blessed is an understatement, these two took the best care of me the entire trip and allowed me to participate in the international conversation on this disease.
Some interesting sessions I attended and my takeaways are below. To read the abstracts from all sessions and poster presentations, click here.
- 2B – Sabrina Paganoni & Ben Saville
photo cred: @alsadvocacy
photo cred: @jensonje
- C26 – Andrea Calvo
photo cred: @bvirgo1
- C37 – Erik Pioro
Background: Pseudobulbar affect (PBA) is a neurologic disorder resulting from various brain abnormalities, including ALS. It results in uncontrolled outbursts of crying and/ or laughing, of varying severity and frequency. PBA episodes are: (1) involuntary, usually uncontrollable, and often exaggerated, (2) often different from the patient’s underlying mood, and (3) prone to cause distress and social isolation. … Treatment of PBA has relied on a variety of antidepressant medications until FDA approval in 2010 of Nuedexta®, a combination of dextromethorphan and low dose quinidine (DM/Q). After much preliminary research, a pivotal study showed significant suppression of PBA episodes with twice daily 20mg/10mg DM/Q dosing (6). DM/Q remains the most effective way of reducing PBA, which when severe causes more distress and a poorer quality of life in patients already suffering from ALS.
>> Unfortunately for those who have experienced one of my episodes, this PBA stuff is no fun. It’s embarrassing and exhausting. It’s frustrating for everyone and often terrifying to the people around me.
- C39 – Joost Raaphorst
Background: Cognitive and behavioural impairment in ALS, especially when severe, influences survival. The frequency and course of cognitive and behavioural impairment in patients with early ALS is unknown. These patients are under-represented in previous studies, although typically included in clinical trials.
Objectives: We aimed to examine the frequency and course of cognitive and behavioural impairment in an incidence cohort of early ALS patients.
- My friend Dr. Matthew Kiernan refereed the debate on what drives the development of ALS/MND hosted by Cytokinetics. Audience Pre-poll: 25 genes, 13 environment, 20 not sure. Post-Poll: 42 genes, 15 environment, 23 not sure.
>> This is always an interesting discussion with people in and around the ALS realm. What causes ALS? At diagnosis I was 27, sporadic (no known genetic factors), limb onset (left hand) with a disease that typically affects 65+ year old military veteran men. What does my environment have in common with the “normal” ALS person? What do my genes have in common? Everyone has their own theory, reasoning to how we got here – the importance lies in the continuation of this conversation, that’s where we’ll find answers, therapies, and a cure.
- C52 – Samar Aoun
Background: The neurologists and other doctors just don’t understand the needs of the patient’s partner in order that he (or she) is better able to cope and provide support!!.” (quote from a family carer). Family carers have a central role in the care and support of people with MND (PwMND), yet they face challenges from diagnosis to bereavement with multiple losses inflicted during their caregiving experience. They may experience a range of physical and psychological concerns and impairments in quality of life and social contacts. The economic disadvantage on families supporting PwMND in Australia has been estimated to be 54% of the total economic costs. Yet their support needs are often neglected because the focus of the services is primarily on the patients and some carers are dubbed the ‘hidden’ patients.
- C53 – Melinda S Kavanaugh
Background: The caregiving experience in ALS/MND is complex and can lead to heavy caregiver burden (1). Yet, little research has focused on the most vulnerable and isolated population of caregivers; children and youth caregivers, or “young caregivers”. This, despite evidence of the adult ALS/MND caregiver experience, highlighting depression, physical toll, and isolation (2). Young caregivers, between the ages of 5–19, participate in all aspects of daily care, from feeding and bathing, to toileting and transferring (3), all in relative isolation. A growing body of international young caregiver research highlights the emotional (4) and social (5) impacts, underscoring gaps in evidence-based programming across countries (6). Yet, the literature has limited information on complex neurological disorders including ALS/MND. A survey of U.S. families in ALS found almost 1/3 of families have a child or youth under age 18 providing care (7), data reflected in a similar study in South Africa. Recent data suggests sleep disruption and minimal caregiving training (8) is common, increasing anxiety and setting up the potential for long-term health effects in young caregivers. With the lack of treatment or cure, and the potential for earlier age of onset with ALS, attention to the experiences and needs of young caregivers is an important inclusion to the broader study of ALS/MND. This plenary will provide a discussion of current research on children and youth caregivers in ALS/MND, perspectives of the person with ALS, how research has been used to inform evidence-based interventions and supports, and a roadmap for future inclusion of children and youth in caregiving research, programming, and support across the globe.
- C54 – Miriam Galvan
Background: Few studies in Amyotrophic Lateral Sclerosis (ALS) have profiled caregivers’ burden, subjective distress, quality of life, and investigated this triad post-bereavement. Sixty-two ALS patients and their primary caregivers were enrolled with caregivers interviewed post-bereavement for the current study. Caregivers completed measures of anxiety, depression, caregiver burden, quality of life, and palliative care treatment to investigate the direct and vicarious impact of caring for a person following their diagnosis with ALS. Caregivers further provided information regarding health-service utilisation and patient clinical demographics were obtained through the Irish register for ALS.
Objectives: The impact of cognitive and behavioural changes on ALS patients and caregivers is gaining increased attention, however, there is a dearth of literature relating to caregiver presentations post-bereavement in ALS. To this end, the current research investigates cognitive status, socioeconomic characteristics, health-service specialist multidisciplinary team (MDT) engagement, financial factors, disease specific variables, palliative care, QoL, and psychological distress in relation to caregiver burden.
- C55 – Miriam Galvin
Background: Quality of life is a basic goal of health and social care. The majority of people with ALS are cared for at home by family caregivers. People who experience illness and those who care for them exist in a relational context and a personal one. It is important to recognize the factors that contribute to quality of life for individuals to better understand the lived experiences in a condition for which there is currently no curative treatment.
Objectives: To explore individual quality of life (IQoL) of people with ALS and their informal caregivers over the illness trajectory.
- C65 – Luc Deliens
Background: People with ALS in an advanced stage and near the end of their life have very high symptom burden and are in need of several health services, including palliative care. Palliative care is the approach that improves the quality of life of both patients and their family carers facing the problem associated with serious illness, through the prevention and relief of suffering by means of early assessment of needs and timely treatment of pain and other problems, physical, psychological, social or existential. It is recommended that symptom management and palliative care start immediately or soon after diagnosis. Hence, palliative care is applicable early in the course of illness, in conjunction with other therapies that are intended to prolong life, and includes those investigations needed to better understand and manage distressing clinical complications. In some cases of ALS existential suffering becomes unbearable and in these cases euthanasia might be the only right last resort option when requested explicitly by a competent patient and properly assessed by the health care providers. However, little is known about healthcare utilization, including euthanasia or voluntary assisted dying, at the end of life in ALS patients. In Belgium, where euthanasia or voluntary assisted dying has been legalised, people with ALS have also access to euthanasia and the incidence of euthanasia is among the highest of all patient groups. In this plenary presentation, we will address these issues by reporting on large scale epidemiological data from Belgium, partly based on administrative linked databases of health claim data, cause of death data, and reported euthanasia cases data. Administrative data provide a valuable source to describe healthcare utilization in small populations such as ALS, but more clinical evidence is needed on the advantages and disadvantages initiating or terminating treatments at the end of life.
- C77 – Susan Mathers
Background: Models of care for people living with progressive neurological diseases are active and evolving constructs—part intuitive response to gaps in service delivery and part ‘workarounds’ for barriers created by poor policy or practice. Increasingly, patients as consumers now sit, or should sit, at the centre of this design process.
The speed of change, the need for multi-dimensional assessment and a coordinated response from both health and disability sectors have meant that services for people with MND have led the way towards better comprehensive care for people with progressive neurological diseases.
A joint statement from Palliative Care Australia and the Neurological Alliance Australia called for ‘an education and support program for palliative care staff on neurological conditions including peer support from specialist centres and education on palliative care for people living with neurological conditions, their family and carer/s’ (1).
- C80 – Akshay Kulkarni
Background: Terminal care includes alleviation of the psychological distress and management of the physical symptoms. With appropriate palliative care services, over 90% of patients with motor neurone disease (MND) can achieve a peaceful death (1). The terminal phase including symptom burden and interventions required has not previously been described in an Australian context.
Objectives: To evaluate and describe the management of patients presenting MND in the terminal phase (last seven days of life).
>> You can compare my session choices to those of last year and you’ll see a common theme around easing caregiver burden and the importance of palliative care. I haven’t been quite about my worries for both of these topics, especially now as I navigate life after divorce. Easily the more morbid of conversations, I find comfort in helping with solutions rather than just being burdensome to the end.
- C78 – Samar Aoun
Background: Breaking the news of the diagnosis of MND is challenging for both neurologists and patients. The manner in which the diagnosis is imparted is one of the most sensitive steps in palliative care and it has implications for the way patients and their families move on from the devastating news of their diagnosis to the actions required for support throughout the illness trajectory.
Objectives: To identify the patients’ and their family carers’ perspective on receiving the diagnosis and compare it to the neurologists’ perspective on delivering it; to determine which aspects of breaking this bad news were associated with greater satisfaction with the way the diagnosis was delivered; and to highlight which aspects need to align better with best practice.
>> This session was interesting to me because no one talks about what it’s like to diagnose this disease, just the experience for the diagnosed.
- C95 Loss of appetite is associated with a loss of weight and fat mass in patients with amyotrophic lateral sclerosis
Background: Weight loss in ALS is associated with faster disease progression and shorter survival.Weight loss in ALS has different possible causes, including loss of appetite.
Objectives: Our objective is to determine the prevalence and impact of loss of appetite on change in body weight and composition in patients with ALS.
- C97 A multidisciplinary pilot study to trial the feasibility and effect of swallowing exercises and diet among people with amyotrophic lateral sclerosis
Background: Swallowing problems and poor nutrition intake compromise quality of life among people with ALS. Conventionally, ALS patients with dysphagia are supported with symptom management and not active therapy. A pilot trial with active exercises for the strengthening of the expi- ratory muscles showed promising results (1), which were later confirmed by a randomized controlled trial (2). Additionally, a study of mice provide a diet with 20% calo- ries as extra virgin olive oil (EVOO) had increased survival rate, improved motor coordination, reduced endoplasmic reticulum (ER) stress, and lowered muscle atrophy (3).
Objectives: The aim of this pilot study was to investigate the feasibility and impact of a moderate intensity swallowing exercises and diet program of 20% energy from EVOO, and to assess quality of life among people with ALS.
Discussion and conclusions: ALS patients who received combined diet and swallowing exercise intervention had a trend towards improved swallowing function, weight and QoL.The study suggests there is scope to include new mod- els of multidisciplinary care among people with ALS. Larger studies are indicated to confirm and further quantify the benefits of EVOO and swallowing exercises among peo- ple with ALS.
Extra Virgin Olive Oil for everyone!
- C106 The management of disordered breathing in MND
Background: Respiratory compromise is associated with significant morbidity and is the usual cause of death in peo- ple with ALS/MND. For this reason, supporting and main- taining respiratory function is regarded as an essential component of care. A significant advance in the respiratory management of ALS/MND was the discovery of the bene- ficial effects of non-invasive ventilation (NIV) overnight, in which the patient uses a mask ventilator system during sleep. A small but seminal randomised controlled trial found that NIV increased median survival in those without bulbar dis- ease by seven months (1). Cohort and case-control studies have further suggested that the survival benefit with NIV may be up to 19 months; much larger than that conferred by our available medications (2). As with multi-disciplinary clinics (3), much of the survival benefit seen with NIV is attributable to the way that clinical care is organised (4). Alongside NIV, there are a number of strategies reported to support breathing during wakefulness (5).Techniques that assist lung inflation and augment cough, such as lung volume recruitment and mechanical insufflation-exsufflation, are considered to have clinical utility in ALS/MND. Unfortunately, the evidence of efficacy is limited, which compromises the strength of clinical recommendations and hampers evidence-based practice.
- C110 The dawn of brain computer interfaces
Background: After 7 years of preclinical development, we have received approval to conduct the first in human implan- tation of the stentrode brain computer interface system in patients with severe paralysis.The device is a stent electrode array implanted in the superior sagittal sinus immediately adjacent to the parasagittal primary motor cortex bilaterally. The goal of the study is to demonstrate the safety profile of the implantation procedure. The secondary efficacy end- points include characterization of the signal profile of the system and capacity to decode beta and gamma synch and desynchronization into discrete output switches that can drive communication software. Data will be late breaking at the time of the conference.
And that’s all, folks! If you stuck with me this far, first, thank you and second, get ready for next week as we try it virtually this year. HUGE shoutout to the amazing patient fellows and caregivers. It has been an honor to serve alongside you.