Saturday, 22 August 2015

UK Rare Disease Survey open till sept.

I saw this rare disease survey earlier in August, and have completed it myself.

Rare Disease UK ( last did a survey which was published in 2010 and have one open now for completion by anyone who cares for, or is affected by, a rare or undiagnosed disease.

The survey takes between half an hour and an hour to complete, depending on how much information/detail you put in. The survey is open until September, so there are a few weeks left for your contributions.

Rare Disease UK is the body which is:

  • Campaigning for a UK Strategy for Rare Diseases
  • Capturing the experience of the rare disease community to inform policy
  • Providing a united voice for the rare disease community
  • Raising the profile of rare diseases
  • Supporting the rare disease community

Completing this survey add another voice to the collection and may help shape policy/strategy in the future.

Thursday, 20 August 2015

5 Years of blogging

I realised the other day that we're already in August (and now over half way through). My first blog post was back in June 2010, which means that I've now been blogging for just over 5 years - and this is post number 128.

Reflections on this - When I first started this up I had in mind that it would be like a diary. I'd record my thoughts and findings, and that maybe a few other people would find it useful. I'm now 5 years down the line, and to a degree my blog still acts like a diary for my thoughts, and the way in which I write acts two-fold, firstly to present those thoughts so that others can read them, but also to act as a reminder to me for how I was feeling/what I was doing at the time.

I also realise that there are plenty of people who like to read up the information that I find. I get contacted fairly regularly be people who thank me for this blog, and how they have found it useful. the four most popular categories of pages in terms of readership are:

  • My own autumn survey
  • Reports from the UK HSP Support Group AGM
  • Pages about particular HSP symptoms
  • Reports about HSP research
However, I'm most happy to get comments when people are able to relate to the experiences that I describe or learn something new.

Talking of which I tweet about HSP some of the time. If you dont mind also seeing various noise/acoustics things you could follow me There are some recent #RareDisease things I've spotted and tweeted about:

Swedish scientists create an artificial neuron that mimicks an organic one

Scientists at Sweden’s Karolinska Institutet and Link√∂ping University have built what they claim is a “fully functional neuron” that mimicks the functions of a human nerve cell.
The “organic electronic biomimetic neuron” combines a biosensor and ion pump. It senses a chemical change in one dish and translates it into an electrical/ionic signal that travels along an “axon” to a “synapse” and releases chemical signals in another dish, that then trigger another neuron, etc.
Such a device could eventually be miniaturized and implantable, says lead investigator Agneta Richter-Dahlfors, Karolinska Institutet professor of cellular microbiology. The research objective: improve treatments for neurological disorders, which are currently limited to traditional electrical stimulation.
This strikes me as being potentially useful for HSP.

Paralyzed men move legs with new non-invasive spinal cord stimulation

Five men with complete motor paralysis were able to voluntarily generate step-like movements thanks to a new strategy that non-invasively delivers electrical stimulation to their spinal cords, according to a new study funded in part by the National Institutes of Health. The strategy, called transcutaneous stimulation, delivers electrical current to the spinal cord by way of electrodes strategically placed on the skin of the lower back.

“These encouraging results provide continued evidence that spinal cord injury may no longer mean a life-long sentence of paralysis and support the need for more research,” said Roderic Pettigrew, Ph.D., M.D., director of the National Institute of Biomedical Imaging and Bioengineering at NIH. “The potential to offer a life-changing therapy to patients without requiring surgery would be a major advance; it could greatly expand the number of individuals who might benefit from spinal stimulation.

This also strikes me as being potentially useful for HSP.

Nike Launches Flyease, Changing The Game For People With Disabilities

For college sophomore Matthew Walzer, simply putting on his shoes was an impossible task. Lacking the dexterity to get his foot in and out of his shoes, the Florida teen, who was born with cerebral palsy, had to enlist the help of his mother and father or others. While he could dress himself, Walzer, 19, told The Huffington Post, “shoes were the one issue” he had learned to deal with and accept.
So he decided to do something about it. Walzer, then in high school, sent a letter to Nike, first reaching out in 2012. His letter ended up in the hands of Nike CEO Mark Parker, who in turn passed it along to Tobie Hatfield, the company’s senior director of athlete innovation. Coincidentally, Hatfield had just embarked on his own journey to explore what Nike could do to help athletes facing physical challenges as well as the Challenged Athletes Foundation.
What resulted in the three years since was a partnership between Walzer and Hatfield’s team at Nike that culminated Monday with the company's unveiling of the Zoom Soldier 8 Flyease. The shoe is the first of its kind for the company, and perhaps any athletic brand specifically designed and dedicated to help those with disabilities and difficulties of buying and wearing shoes. It will be available July 16 in limited quantities at for North America.
“It’s basically kind of kickstarted a lot of work in this area,” Hatfield said of the shoe and the company’s hopes to continue innovating. “Once you start down this road, I don’t know how you could ever go back,” he said.
Whilst I've not yet had to deal with clothes issues, I already notice rapid wear on my shoes, and it makes me wonder if this focus might end up with there being some relevant clothing for those of us with a spastic gait.

Sunday, 9 August 2015

AGM2015: Potato Pants - Ian Bennett

The last part of the AGM was from Ian Bennett, who had been to an HSP meeting in Madrid. There were representatives from 9 HSP groups there, 7 from Europe as well as from Australia and the USA (and apologies from 2 more European groups). The meeing was at the Euro-HSP GA and AGM. You can read about the meeting here:

The meeting was talking about the various HSP groups joining forces and being able to form international groups, effectively enabling an international research alliance. Readers who are members of HSP support groups who wish to be considered for research programmes should make their group aware of this (whenever these have been discussed before, people would find out the details of the trial and be able to make a decision whether to participate or not. If you're not on the list then you wont be asked.....)

From the record of the meeting I copy-and-paste the part about setting priorities for the groups moving forward collaboratively/together:

Setting Priorities- the leader from each group nominated what they believe to be the most important mutual priorities emerging from the meeting. The most commonly mentioned priorities are:
  • supporting the development the global HSP registry with a view to successfully staging phase III clinical trials in the future
  • developing a common symbol/logo for HSP globally, that will signify alignment and collaboration between national support groups, and help present a unified face to external key stakeholders such as clinicians, researchers, regulators, relevant government and non-government bodies, the pharmaceutical industry, the global HSP community, and to the public at large
  • investigating taking on a new and different role in attracting funding.

These seem like a really good set of priorities!

The other part of the meeting which Ian talked about was the Potato Pants campaign....

You can see here a video of Lori Renna Linton describing how HSP has affected her, and how she described to her daughter that trying to walk with HSP is like having 10kg of potatoes on her legs. This was something which had to be tried at home, and after that a school set the challenge....

You can see the event in the school (in Austria) here where the runners have special "potato trousers". They then chose to issue the challenge to two other schools....

When I watch the video of the event I can see that there are indeed some similarities between these runners and how I see people move with HSP, so actually the 10kg of spuds (=potatoes) is a good description.

Why was this discussed at the meeting? - Firstly the event at the school raised 6000 euro for HSP, which is a great amount, and the nominations out to other schools is like the ALS ice bucket challenge from last summer. The questions are: Could potato pants be a global symbol for HSP? - and following that can we make this into an awareness/fund raising challenge like the ice bucket challenge?

Its a couple of months now since the UK AGM and I'm kind of drawn also to the idea that this could also be an educational thing as well. Like in ante-natal classes they sometimes get the dads to strap on a false tummy with (the equivalent weight of) a fully developed baby etc. inside. Could this be a STEM style activity?

I need to put the how could we fund raise from this into some more thought - its very easy and video friendly to get a bucket of iced water thrown at you, but more of a challenge to get some extra weight in your trousers and show. Thinking caps on.....................