Wednesday, 19 October 2016

Research Update

I'm a member of the Research on Motor Neuron Disorders: PLS, HSP/SP, and ALS
Closed group on Facebook. This is a really good group which keeps posting relevant news and information about HSBC.

This post just gives links to some of the information posted recently. I've only posted links to general stories rather than specific HSP studies. Big thanks to Rita Handrich for setting the group up and posting such good stuff.

This report shows that regular stretching boosts cardiovascular fitness if you can't undertake exercise.

This article describes using VR glasses to identify if people have a neurodegenerative disease (like HSP)

This report talks about chronic pain being it's own neurodegenerative disease, noting that there is often no identifiable source.

These are some non medicinal techniques you can use to control pain

This site reports a touchless catheter, which might be useful for some:

This article talks about care giving, but you need to subscribe to see the full thing.

This report indicates a link between weight and cognitive function - the higher your BMI, the higher your inflammation, leading to cognitive decline. Key message is maintain your weight to keep your brain on good form.

Friday, 7 October 2016

Hidden Costs of Rare Diseases - new report

Regular readers may remember me attending a drug re-purposing conference back in Feb this year

(reported here:

The item that caught my attention was the presentation about the hidden costs of rare diseases. I spotted the other day that Genetic Alliance have published a report on this very topic. The report is here:, linked from here

The report has some main findings:

  • Receiving coordinated care is important for rare disease patients, yet remains a challenge,
  • The full costs and benefits associated with different models of care for rare disease patients are unknown 
  • Patients and families face significant (‘hidden’) costs (both financial and psychosocial) associated with the way that their care is managed
  • There are significant limitations associated with existing data sets for rare diseases 

Whilst this is reported as being a feasibility study, within the report they have talked to various patients and carers, and there are some good observations on the difficulties which patients find, and they set out proposals for further research. They do identify and summarise these costs associated with rare diseases, which are very similar to those I heard in Feburary:

Costs associated with appointments: Time off work and reduced income; childcare; travel including petrol, public transport and taxis; parking; food and refreshments; accommodation; sundries; accessible vehicles and transport options.

Other financial costs associated with wider condition management: Private healthcare; childcare and respite; specialist activities and equipment; IT, internet and telephone costs (including paper and printing cost); prescriptions; fees for informal helpers and carers; disruption to employment and income.

Time: Time off work; time spent coordinating (‘project managing’) care and the various agencies and appointments involved; time spent fighting to access care and support.

Psychosocial, health and well-being: Disruption to schooling, employment and personal time; impact on relationships and social life; isolation; impact on identity and sense of self; living with uncertainty; mental health; fatigue; confidence and self esteem; anxiety and stress associated with appointments. 

Wider family: Costs identified above related to patients, parents and grandparents; siblings and wider support networks.