Neurodegenerative diseases are a minefield of stigma, with lack of awareness resulting in damaging views, affecting diagnosis and treatment of these diseases. This stigma commonly leads to people isolating themselves from others for fear of being judged, worsening the progression of disease and removing key support networks.
Rare diseases: Struggle For Awareness
Fortunately, the stigma behind the most common neurodegenerative diseases (Alzheimer’s disease, Parkinson’s disease and vascular dementia) are reducing as awareness is raised in the general population.
Unfortunately, rare neurodegenerative diseases are not as well represented in public circles, and can lead to damaging stereotypes and stigma developing.
Friedrich’s Ataxia (FA)
One of these rare diseases is Friedrich’s ataxia (FA), a neurodegenerative disease and the most common hereditary ‘ataxia’ (movement disorder), affecting 0.5-3 people per 100’000 in European populations. Although this is a hereditary disease, it is recessive so the disease is not guaranteed to be passed through generations.
The disease is caused by a genetic mutation affecting the production of frataxin (a mitochondrial protein in cells) resulting in a loss of coordination, muscle weakness, and ultimately leads to being wheelchair-bound and having difficulties in swallowing and breathing.
No Current Treatments
This disease has no known treatment, meaning the end stage of a complete loss of mobility and independence is an unavoidable consequence.
This, combined with the stigma surrounding FA, make living and caring for a loved one with FA more difficult than necessary; with stigma being an avoidable consequence through raising awareness.
Sources of stigma come from many angles in FA. The major fuel for this is either misinformation or a lack of knowledge and awareness of the condition.
This can be reduced for the person with FA and their family through genetic counselling, which will outline the impacts of the condition and hopefully dispel any harmful preconceptions.
The other aspect which is much harder to control is the awareness of the wider community, outside of someone within FA’s inner circle.
To get another perspective on this condition, read this first-hand account of a young man living with Friedrich’s ataxia.
Without increasing awareness of FA to the public, it will remain a disease which is relatively unknown to people who don’t know someone with the condition and stigma will thrive.
Impact On Transitional Life Events
The age of diagnosis is commonly between 10-15 years of age – although this can extend to the twenties or thirties – coinciding with many transitional life events.
Abnormalities in walking and slurred speech can be embarrassing and difficult in an adolescent environment making these formative years very difficult. These symptoms can cause the affected person to shy away from social contact with friends and lead the individual to isolation, avoiding participation in sports and social activities.
Physical issues will progressively worsen over time and culminate (normally after 15 years) in the person becoming wheelchair bound with difficulties in breathing and swallowing. This prospect is extremely difficult for the person with FA and the friends and family who know that this eventuality is unavoidable.
This physical decline occurs without any effect to cognitive function, yet it is common for those with FA to be affected with the same stigma that affects the disabled and wheelchair bound. Being patronised or talked down to can be a regular occurrence.
Friedrich’s Ataxia Healthcare Burden
Although ‘rare disease’ may imply that a disease does not affect a significant proportion of the public, this is not necessarily the case. Rare diseases cause a huge burden on healthcare systems whilst suffering from a reduced impetus to study and produce therapeutics to treat the disease due to the reduced number of patients compared to more common diseases.
The annual burden of Friedrich’s ataxia is huge, with an annual cost per person of ranging from ~£11800-£19000. The annual cost coupled with the duration of time that patients have the disease typically being 40-50 years – compared to 20 years for Parkinson’s disease – piles a high burden on the healthcare system compared to other neurodegenerative diseases.
Hope For The Future
Hopefully with increased public awareness stigma can be reduced and the quality of life of people with FA can be improved.
A heightened awareness for the disease should also have the added advantage of increasing funding of medical research, producing more therapeutic targets for treatment. This may lead to the discovery of an effective therapeutic strategy to treat the disease, which would be a lifeline for those people living with the disease now.
Giunti, P. et al. (2013) Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany Orphanet J. Rare Dis. 8, 38
White, V.B. et al. (2010) Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling Behav. Brain Funct. 6, 65
Author: Geoffrey Potjewyd