Author: SSAdmin

Evidence that it improves quality of life

The evidence is clear. Physical activity is good for people living with disability.

Whilst it may seem like a no-brainer, the study reported here provides solid evidence that health-related quality of life (HRQoL*) improves with physical activity.

Expectedly, the study showed that HRQoL is lower for people living with disability compared with the general population anyway.

*HRQoL covers physical, mental, social and spiritual aspects thus providing a balanced measure of quality of life.

Background: Any form of long-term physical or mental impairment might negatively influence health-related quality of life (HRQoL). HRQoL, as an independent concept, covers a wide range of characteristics that includes physical, mental, social, and spiritual functions. People with disabilities are continuously exposed to multiple barriers that deteriorate their HRQoL. It also creates impairment in performing physical activities. However, experts opine regular physical exercise as an intervention to help disabled people. This research aims to investigate the association between disability and physical activity with HRQoL among the adult population in Australia.

Design: A retrospective cohort study.

Methods: This study utilized the most recent 19 waves of data (2002-2020) from the nationally representative Household, Income and Labour Dynamics in Australia (HILDA) survey. Component summary scores such as physical component summary (PCS) and mental component summary (MCS), and SF-6D utility scores were utilized to measure HRQoL. Random-effects GLS regression technique was fitted to estimate the association between disability and physical activity with HRQoL, after adjusting for a range of socio-demographic and health-related characteristics.

Results: Disability was negatively associated with the PCS (-5.95), MCS (-2.70) and SF-6D (-0.060) compared with non-disabled counterparts. However, respondents engaged in the recommended level of physical activity had substantial gain in PCS (b = 0.96), MCS (1.57), and SF-6D (0.021) scores. Besides, the results showed that performing the recommended level of physical activity in the presence of disability has lessen the negative effect of disability/ positive moderating effect of physical activity on PCS, MCS, and SF-6D scores by 1.84 points, 0.82 points, and 0.013 percentage points, respectively.

Conclusion: This study found an inverse association between disability and HRQoL among Australian adults. However, physical activity was associated with improved HRQoL. Therefore, public health interventions, such as the orientation of physical activities, have a higher potential to dwindle the burden regarding HRQoL.

SOURCE:  PLoS One. 2022 May 12;17(5):e0268304.  doi: 10.1371/journal.pone.0268304. eCollection 2022. PMID: 35552556

Disability, physical activity, and health-related quality of life in Australian adults: An investigation using 19 waves of a longitudinal cohort

Syed Afroz Keramat ^1 2 3, Benojir Ahammed ⁴, Aliu Mohammed ⁵, Abdul-Aziz Seidu ^6 7, Fariha Farjana ¹, Rubayyat Hashmi ^2 8, Kabir Ahmad ², Rezwanul Haque ², Sazia Ahmed ¹, Mohammad Afshar Ali ^2 9 10, Bright Opoku Ahinkorah ¹¹

1 Economics Discipline, Social Science School, Khulna University, Khulna, Bangladesh.

2 School of Business, University of Southern Queensland, Toowoomba, QLD, Australia.

3 Centre for Health Services Research, University of Queensland, Brisbane Australia.

4 Statistics Discipline, Science, Engineering, Technology School, Khulna University, Khulna, Bangladesh.

5 Department of Health, Physical Education, and Recreation, University of Cape Coast, Cape Coast, Ghana.

6 Centre For Gender and Advocacy, Takoradi Technical University, Takoradi, Ghana.

7 College of Public Health, Medical and Veterinary Sciences, James Cook University, Townsville Australia.

8 QUT Business School, Queensland University of Technology, Brisbane, QLD, Australia.

9 Quality Use of Medicines and Pharmacy Research Centre (QUMPRC), Clinical and Health Sciences, University of South Australia, Adelaide, South Australia.

10 Department of Economics, Jagannath University, Dhaka, Bangladesh.

11 School of Public Health, University of Technology Sydney, Sydney, Australia.

Exploring home & living solutions, promoting independence

Do you struggle to find solutions to increase your independence at home?

Advance Rehab Centre (ARC) is hosting a free patient webinar on Monday, June 20th at 11 am AEST ‘Exploring home and living solutions, promoting independence’ to be presented by ARC’s Housing Solutions and SDA Manager, Jo-Anne Bennett.

Mark the date in your calendar now.

Registration is essential. Register using this link

What the webinar will cover

This free webinar will provide an overview of mainstream accommodation and support models as well as cover Specialist Disability Accommodation (SDA) for NDIS participants. Jo-Anne will discuss how the latest technologies can be used for your situation, highlight the role of the environment, and how supports, as well as major and minor modifications, can all be used to increase independence. This will be an interactive session to explore the different home and living solutions

About Jo-Anne

Jo-Anne is the Manager of the Housing solutions and SDA team at ARC. She started this very specialised and dedicated team of Occupational therapists almost 5 years ago to support people with complex disabilities to access accessible, supportive environments. She and her team are at the cutting edge of equipment, technologies and models of care that can help people meet their everyday living goals.

What you need to know

The numbers getting infected and the numbers of people dying from COVID are at an all-time high in Australia.

With the lifting of COVID restrictions nationwide, and with news and media outlets, as well as the community, tiring of the ongoing saga with the pandemic, many have become resigned or complacent.

We asked Dr Kishore Kumar for his thoughts https://hspersunite.org.au/covid-19-vaccination-hsp/ in February 2021, and felt it was time for an update. Dr Kumar, a neurologist at Concord Hospital in Sydney, outlines what the HSP community now needs to know to stay safe and help avoid serious medical consequences. Dr Kumar said that people with HSP may be particularly vulnerable to the effects of the COVID pandemic. Learn more about COVID.

Avoiding Infection

The currently dominant strains of the virus, the Omicron variants, are highly contagious. Coupled with the almost complete lifting of restrictions, the cessation of free, mass testing, increased social activity and interactions, greatly reduced mask wearing and with winter and the flu season upon us, there is now a scenario playing out nationally of huge rates of infection.

Fortunately, vaccination rates are high, including a majority who have now had at least one booster shot. Unfortunately, the death toll from the virus is now averaging around 50 per day, which is an alarmingly high number, and predictably occurring in vulnerable populations such as the aged and those with other medical conditions.

• If you are eligible for a booster, get one! Second booster shots are now more widely available.
• Weigh up the risk of going where there will be crowds; avoid if possible
• Wear a mask when unavoidably mixing with people; an N95 rated mask is best
• It is also now Flu season – talk with your GP about whether a flu shot is right for you.

Managing Infection

Symptoms & Testing

If you develop cold or flu like symptoms such as a cough, sore throat or nasal congestion, use a RAT (Rapid Antigen Test) to see if you have a COVID infection. If the test result is negative, test again the following day and at least again the day after as it can take some time after symptom onset before a RAT returns a positive test result if you have COVID.

Antiviral Medication

Immediately isolate if positive and consult your GP. Treatment with antiviral medication within the first 5 days after infection is normally highly effective in helping avoid the more serious medical outcomes that require hospitalisation.

Rest

Take it easy … be kind to yourself, no physical exertion, plenty of rest. This is particularly important to continue in the second week after infection, even if you are feeling okay. Any weakening of the body’s immune response at this time can lead to the condition becoming more serious, with the potential for “long COVID” where serious symptoms can persist beyond 3 months.

Restarting your therapy program

While important to try and avoid COVID-19 infection, it can be helpful to restart your physiotherapy, occupational therapy, and/or rehabilitation program. A published study (van de Venis et al.) suggested that patients with HSP had worsening of their HSP symptoms due to pandemic related lockdowns, and so restarting your therapy programs in a COVID-safe way may help to alleviate them.

Take a Survey to help research

Two mums of children with HSP, Bridget from the US and Ece from the UK, would like to hear from other parents of children with HSP to gather data that might help researchers and clinicians working on treatments.

They would like you to take a survey to create a register of childhood-onset HSP cases. The survey is not scientific, so everyone can answer the questions. It will take about 5-10 minutes to complete.

Bridget lives in the US. Her son, Donovan, just turned 18 and has complicated, sporadic SPG4. Donovan was diagnosed with cerebral palsy (CP) at age 2. As his symptoms worsened during puberty, his diagnosis was revised to HSP when he was 14.

Ece lives in the UK. Her daughter, Emily, is 3 years old and has complicated, sporadic SPG3A. Emily was diagnosed with HSP shortly after turning one. Her mutation is rare and so far, has been reported in only one adult.

Since getting their children’s HSP diagnosis, both Bridget and Ece have been finding other children with HSP.  As with any research into cures for rare diseases, there is strength in numbers and they are trying to bring as many people with HSP together as possible to collect data to help guide research. 

They will share the aggregate results of this survey anonymously, without any identifiers or email addresses of the participants, with researchers working on HSP and HSP associations around the world. You will have the option to choose your communication preferences as you take the survey.

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Ece and Bridget hope that parents of children with HSP, or individuals who had HSP symptoms before the age of 18 themselves, can complete the survey.

You can find further information on the survey and the survey questions at this link.

If you have any questions, you can email Bridget and Ece.

Disclaimer: The HSP Research Foundation is publicising this survey as a service to these parents, but is not in a position to provide an endorsement or recommendation.

Victorian HSP family the motivation

Aaron Nguyen, an industrial designer from Victoria has relatives with HSP. They are the inspiration behind his concept and design of an ankle foot orthotic (AFO) that previously won the James Dyson Award for design 2021 and has now taken out the student design prize in the Victorian Premier’s Design Awards for 2021. Aaron studied industrial design at the Royal Melbourne Institute of technology (RMIT).

The LUNA Modular AFO is a new approach to Ankle Foot Orthosis design, targeted at young and growing individuals with Hereditary Spastic Paraplegia (HSP).

AFOs aid individuals’ ability to walk but do not account for growing users, especially children. The LUNA Modular AFO uses a new modular design that allows the device to adapt and conform with the growing child.

Design Brief

Aaron said “Having grown up with two relatives with Hereditary Spastic Paraplegia (HSP), I quickly realised current orthoses largely ignored growing users.

The project seeks to design a holistic solution that modularly grows and adapts with the user—additionally designing for the orthotists by integrating better fabrication processes and technology to create more consistently accurate AFOs.

Design Process

Aaron started with an in-depth investigation into children’s common symptoms and conditions with Hereditary Spastic Paraplegia (HSP).

The information gathered established a base understanding of the physiological and biomechanical requirements of the design solution. He also investigated existing AFOs.

An opportunity was seen for AFOs to use better technology, fabrication processes and clever design techniques like modularity and computerised generative design to create a superior solution, together with the initial concept to use modular components to conform to growing children.

Aaron then reached out to Physiotherapists, Osteopaths, Child Orthotists and Biomechanical Engineers who played a vital role in the design process.

Local and international fabricators were contacted to identify the ideal material and process and collaborated with the project to create a full-scale functioning prototype.

Design Excellence

The LUNA Modular AFO is a complete redesign and reimagining of Ankle Foot Orthosis (AFO) systems. Currently, there are two common types of AFOs; affordable “One Size Fits All” solutions that lack support or more expensive custom fabricated solutions that provide optimal support.

The intuitive and tool-less modular design uses a “One Size Fits Many” backbone and uses modularly attached 3D printed components to offer the user customisation and optimal support. The modular system allows the device to grow with the user, adapt to their condition and be repaired when damaged. A traditional AFO will fit a child for 6-8 months on average, and the LUNA Modular AFO extends this to 2-3 years.

The LUNA AFO reduces weight and allows for visual and aesthetic personalisation, including the child’s name, contact information and graphics of their preference.

The LUNA AFO also champions user safety and med-tech innovation with consideration for first aid and user comfort. The sustainably sourced nylon polymer used in the additive manufacturing components has been engineered into a semi-flexible material, allowing the design to be both rigid in supportive areas and soft and flexible in sensitive areas.

The softening of sensitive areas minimises cuts, bruised and blisters, providing the child with a better quality of life, a vital aspect of the design brief.

Design Innovation

The hallmark innovation with the LUNA Modular AFO is the modular system that allows the device to grow with the user, adapt to their condition and be repaired if damaged.

Features include the first aid keyhole allowing first responders to care for the user without taking off the AFO and possibly worsening the injury or the use of semi-flexible plastics to soften sensitive areas to reduce AFO related injures.

The genuinely groundbreaking innovation is the Shapechange Feature, which is part of the design that physically morphs and visually indicates when the AFO is too small and requires an upgrade.

Design Impact, Circular design and Sustainability

A traditional AFO will fit a child for 6-8 months on average, meaning that between infancy and young adulthood, they can use up to 28 pairs of AFOs and cost up to $30,000. From an environmental perspective, the current AFOs are mainly fabricated from non-renewable thermoplastics, and the one-piece design often means that damage can render them redundant before their end-of-life.

Conversely, the new modular approach reduces waste by using fewer AFOs between infancy and young adulthood and less material between upgrades. The modular design also allows the entire device to be repaired by the user/clinician when damaged.

Furthermore, the modular components use sustainably sourced nylon polymer made from flax seeds which can be recycled entirely. The polymer can be heated and ground back into the raw materials and reused to produce more components in the end-of-life phase.

The project was developed by:

• Aaron Nguyen – Industrial Designer
• Darren Tan – Biomechanical Engineer
• Jarrod Cahir – Orthotist
• Dr Giuliano De Antonis – Osteopath
• Emma Luke – Honours Supervisor

Read the full article 

SOURCE: Victorian Premier’s Design Awards – Best in Category Student Design 2021

Luna Modular AFO

Aaron Nguyen / Darren Tan – Biomechanical Engineer / Jarrod Cahir – Orthotist / Dr Giuliano De Antonis – Osteopath / Emma Luke – Honours Supervisor

Data on wellbeing, relationships, acceptance and more

Results from an on-line Survey for People with Hereditary Spastic Paraplegia (HSP) linking Wellbeing with Relationships, Acceptance, Life with HSP and Bladder issues.

Here are the results of Adam Lawrence’s ninth survey, launched in October 2021. 

There were 565 respondents who completed the survey, predominantly from the USA, Germany, Brasil, and the UK. Results show information on HSP diagnosis, gene type, wellbeing, mobility analysis and much more about life with HSP.

Around 64% have had a genetic test. The proportion having a genetic test is lowest in Brasil (48%), and highest in Germany (82%) and Austria (80%). 321 respondents (57%) know which type of HSP they have.

Overall, well-being scores are average, not being significantly different from most previous years surveyed and not significantly different from the general population.

20% say they have been excluded from social events because of their HSP.

63% always feel comfortable discussing HSP with their partner/family, with 29% feeling comfortable sometimes.

In a romantic relationship, 50% say they would be uncomfortable but would discuss their HSP, with 43% saying they would be comfortable discussing it. Around 20% indicate that their HSP has negatively impacted a long-term relationship either in the past or currently, with 31% thinking that there will be negative impacts on long-term relationships in the future.

There is low to moderate acceptance of having HSP on average across the more than 500 who responded. The survey established a strong link between acceptance and wellbeing, with those scoring low on acceptance having significantly lower wellbeing than those who scored high.

The two main causes of stigma were seen as lack of understanding of HSP and the symptoms of HSP.

The proportion of people who identify as disabled increases with reduced mobility although it is not the only factor in how people see themselves.

Almost 3/4 of respondents reported mild or moderate bladder effects.

87% would like to participate in HSP research projects.

There is a wealth of information in these results, backed by in-depth analysis and thoughtful conclusions – well worth reading at length.

Get an abbreviated version of the results:  http://hspjourney.blogspot.com/2022/02/2021-survey-results.html

Get the full results 

SOURCE: A journey to HSP/FSP, Feb 2022

2021 Survey Results

Adam Lawrence

8 years from symptoms to genetic diagnosis

A review of 16 childhood-onset cases of HSP from two clinics in Atlanta Georgia (USA) found the time from symptom onset to genetic confirmation was 8 years on average. 70% of cases were complicated by one or more of cognitive impairment, polyneuropathy, developmental delay, autism, epilepsy and ADHD.

Background: Hereditary spastic paraplegia (HSP) encompasses several rare genetic disorders characterized by progressive lower extremity spasticity and weakness caused by corticospinal tract degeneration. Published literature on genetically confirmed pediatric HSP cases is limited.

Methods: We conducted a retrospective review of childhood-onset HSP cases followed in the neuromuscular clinics at Children’s and Emory Healthcare in Atlanta. Clinical presentation, family history, examination, electrodiagnostic data, neuroimaging, genetic test results, comorbidities, and treatment were recorded.

Results: Sixteen patients with HSP (eight males, eight females) with a mean age 19 years ± 15.7 years were included. Ten patients (66%) presented with gait difficulty. Seven (44%) were ambulatory at the last clinic follow-up visit with an average disease duration of 7.4 years. Genetically confirmed etiologies included SPAST (3 patients), MARS (2), KIF1A (2), KIF5A (1), SACS (1), SPG7 (1), REEP1 (1), PNPT1 (1), MT-ATP6 (1), and ATL1 (1). Symptom onset to genetic confirmation on an average was 8.2 years. Sensory motor axonal polyneuropathy was found in seven patients, and two exhibited cerebellar atrophy on magnetic resonance imaging (MRI) of the brain. Neurological comorbidities included developmental delay (n = 9), autism (n = 5), epilepsy (n = 3), and attention-deficit/hyperactivity disorder (n = 2).

Conclusions: In our study, a significant proportion (70%) of subjects with childhood-onset HSP had comorbid neurocognitive deficits, polyneuropathy with or without neuroimaging abnormalities, and rare genetic etiology. Genetic diagnosis was established either through inherited genetic neuropathy panel or whole-exome sequencing, which supports the utility of whole-exome sequencing in aiding in HSP diagnosis.

SOURCE:  Pediatr Neurol. 2022 May;130:7-13. doi: 10.1016/j.pediatrneurol.2022.02.007. Epub 2022 Mar 3. PMID: 35303589 Copyright © 2022.

Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature

Tanya F Panwala  1 , Rocio Garcia-Santibanez  2 , Joaquin A Vizcarra  2 , Aixa Gonzalez Garcia  3 , Sumit Verma  4

1. Florida Atlantic University, Charles E. Schmidt College of Medicine, Boca Raton, Florida.

2. Department of Neurology, Emory University School of Medicine, Atlanta, Georgia.

3. Department of Pediatrics, Genetics Section, University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, Little Rock, Arkansas.

4. Department of Neurology, Emory University School of Medicine, Atlanta, Georgia; Division of Pediatric Neurology, Children’s Healthcare of Atlanta and Emory University School of Medicine, Atlanta, Georgia.

How they are related and why

Increased trunk movements go hand-in-hand with reduced balance capacity in people with HSP. Those with markedly increased trunk movements were more often toe walkers.

With disease progression and the ability to correct for impaired gait decreases, trunk movements are likely employed as a balance correcting strategy.

Objective: Hereditary spastic paraplegia (HSP) is characterized by a bilaterally spastic gait pattern. During gait, increased trunk movements are often observed. People with HSP likely generate trunk movements to improve foot clearance and step length, but there may be additional explanations. Here, we investigate whether there is an association between reduced balance performance and increased trunk movements, as an increase in trunk movements may partly reflect balance correcting strategies.

Methods: We analyzed an historic cohort of 86 people with HSP who underwent gait analysis and balance examination. Two researchers reviewed gait analyses videos and classified the observed trunk movement as (1) normal, (2) moderately increased, or (3) markedly increased, and categorized participants as ‘toe walkers’ (yes/no). Balance performance and spatiotemporal gait parameters were collected from the medical files. Parameters were compared between people with normal vs. moderately increased trunk movements, moderately vs. markedly increased trunk movements, and normal vs. markedly increased trunk movements.

Results: Patients with moderately increased trunk movements during gait scored lower on the Berg Balance Scale (p = 0.002) and/or the Mini Balance Evaluation Test (p = 0.043) than patients with normal trunk movements. Likewise, patients with markedly increased trunk movements performed worse on the BBS (p = 0.037) and/or the Mini-BESTest (p = 0.004) than patients with moderately increased trunk movements. Patients with markedly increased trunk movements were more often toe walkers than patients with moderately increased (68% vs. 6%; p < 0.001).

Conclusions: We found an association between increased trunk movements and reduced balance capacity. This may have several-not mutually exclusive-explanations. One of these explanations is that trunk movements, at least partly, reflect balance correcting strategies. With the disease progression, ankle strategies and foot placement strategies become impaired and insufficient to restore balance after intrinsic perturbations. Hip strategies are then potentially recruited to maintain balance, resulting in increased trunk movements.

SOURCE:  J Neurol. 2022 Mar 20. doi: 10.1007/s00415-022-11054-6. Online ahead of print. PMID: 35307753 © 2022. The Author(s).

Increased trunk movements in people with hereditary spastic paraplegia: do these involve balance correcting strategies?

Lotte van de Venis  1 , Vivian Weerdesteyn  2 , Aletta Konijnenburg  2 , Bart P C van de Warrenburg  3 , Alexander C H Geurts  2   4 , Jorik Nonnekes  2   4

1. Department of Rehabilitation, Center of Expertise for Parkinson and Movement Disorders, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. lotte.vandevenis@radboudumc.nl.                 

2. Department of Rehabilitation, Center of Expertise for Parkinson and Movement Disorders, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.                                                                          

3. Department of Neurology, Center of Expertise for Parkinson and Movement Disorders, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.                                                                                        

4. Department of Rehabilitation, Sint Maartenskliniek, Nijmegen, The Netherlands.

Full clinical picture & revisiting test results important

This massive study of 500 families by a multidisciplinary team established a diagnosis of genetic disease in 43% of families on initial interpretation and a further 17% on follow-up and reinterpretation over time.

Success was attributed to:

• using trio sequencing (both parents and child)
• having a multidisciplinary team consider the full clinical picture
• and with regular follow-up and reinterpretation of genetic test results as needed.

Abstract

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic disorders, but the proportion of patients found to have pathogenic or likely pathogenic variants ranges from less than 30% to more than 60% in reported studies. It has been suggested that the diagnostic rate can be improved by interpreting genomic variants in the context of each affected individual’s full clinical picture and by regular follow-up and reinterpretation of GWS laboratory results.

Trio exome sequencing was performed in 415 families and trio genome sequencing in 85 families in the CAUSES study. The variants observed were interpreted by a multidisciplinary team including laboratory geneticists, bioinformaticians, clinical geneticists, genetic counsellors, pediatric subspecialists, the referring physician, and independently by a clinical laboratory using standard American College of Medical Genetics and Genomics (ACMG) criteria. Individuals were followed for an average of 5.1 years after testing, with clinical reassessment and reinterpretation of the GWS results as necessary.

The multidisciplinary team established a diagnosis of genetic disease in 43.0% of the families at the time of initial GWS interpretation, and longitudinal follow-up and reinterpretation of GWS results produced new diagnoses in 17.2% of families whose initial GWS interpretation was uninformative or uncertain. Reinterpretation also resulted in rescinding a diagnosis in four families (1.9%).

Of the families studied, 33.6% had ACMG pathogenic or likely pathogenic variants related to the clinical indication. Close collaboration among clinical geneticists, genetic counselors, laboratory geneticists, bio-informaticians, and individuals’ primary physicians, with ongoing follow-up, reanalysis, and reinterpretation over time, can improve the clinical value of GWS.

Read the full article

SOURCE:  HGG Adv. 2022 Jul 14; 3(3): 100108. Published online 2022 Apr 18. doi: 10.1016/j.xhgg.2022.100108 © 2022 The Authors.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Alison M. Elliott, 1,2,3,* Shelin Adam,1,2 Christe‘le du Souich, 1,2 Anna Lehman,1,2 Tanya N. Nelson, 4 Clara van Karnebeek, 5,6 Emily Alderman, 1 Linlea Armstrong, 1,2 Gudrun Aubertin, 1 Katherine Blood, 1 Cyrus Boelman, 2,7 Cornelius Boerkoel, 1,2 Karla Bretherick, 4 Lindsay Brown, 4 Chieko Chijiwa, 1 Lorne Clarke, 1,2 Madeline Couse, 1 Susan Creighton,1 Abby Watts-Dickens, 1 William T. Gibson, 1,2 Harinder Gill, 1 Maja Tarailo-Graovac, 2 Sara Hamilton, 1 Harindar Heran, 1 Gabriella Horvath, 2,8 Lijia Huang, 4 Gurdip K. Hulait, 1 David Koehn, 1 Hyun Kyung Lee, 1 Suzanne Lewis, 1,2 Elena Lopez,1,2 Kristal Louie, 1 Karen Niederhoffer,1 Allison Matthews, 4 Kirsten Meagher, 1 Junran J. Peng,2 Millan S. Patel,1,2 Simone Race,8 Phillip Richmond,2 Rosemarie Rupps, 1 Ramona Salvarinova, 2,8 Kimberly Seath, 1 Kathryn Selby, 2,7 Michelle Steinraths, 1 Sylvia Stockler,2,8 Kaoru Tang,1 Christine Tyson, 4 Margot van Allen, 1,2 Wyeth Wasserman,1,2,5 Jill Mwenifumbo, 2 and Jan M. Friedman 1,2

1. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

2. BC Children’s Hospital Research Institute, Vancouver, BC, Canada

3. Women’s Health Research Institute, Vancouver, BC, Canada

4. Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children’s and Women’s Hospitals, Vancouver, BC, Canada

5. Department of Pediatrics, Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada

6. Department of Pediatrics, Emma Children’s Hospital, Amsterdam, University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands

7. Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada

8. Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada

How, when, where is best?

After being told that you have HSP, it is normal for the mind to go into overdrive. A thousand questions pop up, including ‘should I tell my partner, kids, family, friends, colleagues, employer ….?’.

And if you do decide to say something, what should you say … how … when … where?

These are far from trivial questions. There are instances where raising and discussing the topic of HSP has led to serious rifts and estrangement in families, especially between different parts of extended families.

from an article in Brain&Life, American Academy of Neurology, Feb/Mar 2022

Karen Jaffe, an obstetrician-gynecologist from Cleveland, OH, reacted to her 2008 diagnosis of Parkinson’s disease by telling her husband that night but didn’t tell their daughters for months. She kept it secret from siblings for a year and many friends and colleagues for three years. It was easy to do, as her condition was well controlled with medication and she had no tremors. She was worried about being forced to leave her practice (she eventually retired in 2013) and was haunted by a drawing from the 1800s of an old, stooped man with Parkinson’s disease—she didn’t want people to think of her that way.

Receiving a diagnosis of a serious neurologic condition is an intensely personal experience. People may feel shock, confusion, and a sense of loss. There’s so much to process, intellectually and emotionally. One of the first decisions people often confront is whom to tell and when. Most likely they’ll tell their life partners early on, but what about young children living at home or adult children? Then there are siblings, parents, other relatives, close friends, casual acquaintances, friends at work or clubs or school, and connections on social media.

You don’t have to decide right away about disclosing your condition. “You are in control,” says Gary McClain, PhD, a mental health counselor in New York City and author of After the Diagnosis: How Patients React and How to Help Them Cope. “You own it.” Psychologists recommend that you wait until you come to terms with your diagnosis and feel emotionally ready to tell others.”

That’s not to say you should keep it a secret, especially for a long time. Opening up requires vulnerability, but letting friends and family know what’s happening has many potential benefits.

“People can’t help you if they don’t know what you’re facing,” says O’Donnell-Ames. And hiding a diagnosis may perpetuate the stigma around the condition, says Jaffe, who wishes she had reached out to others earlier. “I should have told people up front,” she says. “There’s no shame in having Parkinson’s.” And she now realizes it would have been good to befriend another person with Parkinson’s a lot sooner.

Proceed Cautiously

Three main risks of disclosure are stigma, exploitation, and overreaction, says Winston Chiong, MD, PhD, associate professor at the Memory and Aging Center at the University of California, San Francisco. “Many neurologic disorders are associated with a great deal of stigma and a loss of social standing in the eyes of family members and others who are important,” he says. “Patients may be worried about being treated differently.”

That’s one reason why he recommends thinking twice about broadcasting a condition on social media. “There’s a big difference between Facebook friends and real friends,” he says.

Another fear is that family members or friends may become overprotective and limit a patient’s freedom. “When you have a mobility disorder,” says Dr. Chiong, “your family may be terrified that you’ll fall, and [they may] discourage you from walking or doing other things you can do. Patients who aren’t active can become deconditioned or isolated, which affects their outcomes.”

Cultivate Support

The best solution is to tell people close to you relatively early. “While disclosing too broadly can add to the stigma, telling family and friends can mitigate stigma—especially self-stigma, which can be worse if patients feel they can’t talk about their diagnoses with people they know and trust,” says Dr. Chiong.

Share Genetic Information

If the condition has a genetic component, says Cecchi, “it’s your responsibility to disclose it to family members so they can make their own independent and informed decisions about whether to get tested, which may affect what careers they pursue, whether they start families, whether they make large purchases, and when to retire.”

Disclosure – how, when, where?

Many people may refrain from talking about their conditions because they don’t want to be burdens to, say, adult children with their own stresses. But that can backfire. “Some people will feel unappreciated if you don’t tell them,” says Dr. McClain, “and you’re limiting the support you’ll get during an important emotional time.” Knowing about a loved one’s condition, and helping, may make others feel better, too. “Your family benefits by being able to help you,” he says. “It benefits us to give—when you give, you receive.”

To disclose a diagnosis, some people may want to gather family members together and let them all know at once, while others may feel more comfortable reaching out individually. “It doesn’t need to be a big production,” says Cecchi.

You also could use a digital platform such as Caring Bridge (http://caringbridge.org), a website where people create health journals to share with specific individuals. Support groups are another venue for opening up, finding resources, and getting emotional support.

Dr. McClain often suggests a script for people who are still adjusting to their diagnoses. They could tell others: “I am going to talk to you about something I’m dealing with. I don’t need advice, and you don’t need to fix it or share words of wisdom. I just need you to listen. If I need help, I’ll ask for it, so just be there for me.”

Be aware that not all reactions will be helpful. Some people may say inappropriate things or rush to solve the problem with advice about self-help or alternative medicine. Others may feel overwhelmed and not want to engage. They may say something like “You’ll be fine; let’s not talk about this anymore,” or lecture about not being negative.

And it’s okay to ask for help—the more specific the better. “You can say, ‘I want you to go grocery shopping for me or to make me dinner—pick one,’” suggests Cecchi. One friend or relative may be good for sending an uplifting text each day; another might do research; a third might just cry with you on the phone once in a while.

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SOURCE: Brain&Life, American Academy of Neurology, Feb/Mar 2022

How to Share a Diagnosis with Friends and Family

https://www.brainandlife.org/articles/how-to-share-diagnosis-with-friends-family

By Bob Barnett