Bridal shop praised for wheelchair wedding dress store front

A Bristol bridal boutique has been praised for displaying one of its wedding dresses on a mannequin sat in a wheelchair prominently in its shop window.


A photo of the display at The White Collection in Portishead, went viral on Twitter after it was shared by disabled artist Beth Wilson.

"The new wedding shop in town has a wheelchair using mannequin and it shouldn't be exciting but it's the first time I've ever seen disability portrayed in a shop window," Mrs Wilson said.


The 36-year-old has been a wheelchair user for the past five years and said she was pleased because the display made her feel represented. "So often disabled people feel invisible because we don't see ourselves in the media... especially not modelling beautiful clothes," Mrs Wilson. "I don't need a wedding dress but if I did, I'd definitely be far happier about going to a shop where I knew that I'd be accepted, wheelchair and all."


Laura Allen, who owns the bridal shop with her sister Sarah Parker, said they "didn't think much about it" when they installed the display.


"It's been great having such a positive response, but in a way it's quite sad people have done a double-take, it shows how rare it is to see a wheelchair in a shop window," said Mrs Allen.


"It would be nice one day for people to double-take just because they like the dress."


The 29-year-old thinks other shops should follow their example, although she adds she does not believe they are the first to represent disability in this way.

"It's an industry that's well known for not being inclusive, a lot of bridal shops you go past you see the standard skinny mannequin," said Mrs Allen. "But everyone gets married, it doesn't matter what you look like or how you are, your day is going to be special.

"The mannequin looks amazing and the dress looks just as good as if they were stood up."

The wheelchair in the display was given a decorative garland, something Mrs Wilson also praised.

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Skynews, 15:01, UK, Thursday 10 January 2019

Less than 100 days until Rare Disease Day 2019!

Tuesday 20 November marked 100 days until Rare Disease Day 2019.

The countdown to Rare Disease Day 2019 has begun...

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.


The 12th edition of Rare Disease Day will focus on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease and their families around the world face every day.

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Eurordis

Information video about European Reference Networks

The European Commission has released a new information video and flyer for patients and healthcare professionals explaining how #EuropeanReferenceNetworks work.

The most detailed scan of the wiring of a healthy human brain

An incredible new film shows the human brain in unrivalled detail, thanks to a partnership between Cardiff University and Siemens Healthineers.


BBC Medical Correspondent Fergus Walsh's brain was scanned at Cardiff University Brain Research Imaging Centre (CUBRIC) using Europe’s most powerful MRI scanner – the Magnetom Skyra Connectom 3T.

Siemens Healthineers used the scan data to produce amazing images of Fergus’s brain by adapting a technique used in the film industry known as cinematic rendering. These images provide a stunning new view of the pathways taken by the white matter, revealing the complex set of connections that underpin brain function.


Another volunteer to be scanned was Sian Rowlands who has multiple sclerosis. Conventional scans clearly show lesions - areas of damage - in the brain of MS patients. But the advanced scan, showing axonal density, can help explain how the lesions affect motor and cognitive pathways - which can trigger Sian's movement problems and extreme fatigue.

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https://www.cardiff.ac.uk/news/view/810390-the-most-detailed-scan-of-the-wiring-of-the-human-brain

Sainsbury's is rolling out a new scheme to help shoppers with hidden disabilities in store

Sainsbury's has launched a new in store initiative to help customers with hidden disabilities. Shoppers will be able to pick up a sunflower lanyard at participating Sainsbury's stores, which will act as a discreet sign to alert staff to customer who may need additional help whilst shopping. The scheme, which is the first of its kind, was set up to help those with a number of disabilities such as autism, dementia, visual or hearing impairment.

Sainsbury’s is the first supermarket to test this initiative, and was inspired by a similar scheme at Gatwick Airport where over 10,000 lanyards have been collected to date.

The lanyards themselves are free, and customers can keep them so they can wear them each time they come into store.

After a successful launch in Barnstaple, in North Devon, the retailer will roll out the scheme to a further nine stores across the UK.

Customers are already loving the scheme with one shopper telling Sainsbury’s, “I must say, it’s a great idea. This morning I did feel a bit stupid having to put on the lanyard and I told my husband I didn't want to wear it, but he encouraged me to." "I went to the petrol station first before going to the supermarket which I would never normally do on my own, but I found the lanyard gave me confidence as I knew people would help me. I'm partially sighted and have early onset dementia, so for me the lanyard is brilliant."

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Article

Paris bus driver kicks off every single passenger because they refused to make room for a wheelchair user

A Paris bus driver has been hailed as a hero after ordering all his passengers off the vehicle after they refused to make room for a wheelchair user to get on board.

Francois Le Berre, who has multiple sclerosis, was waiting patiently at a bus stop in Porte de Clichy in the French capital's suburbs. When the bus arrived the access ramp was put up but passengers on board did not move to allow him space, leaving him stranded outside. 

 

Spotting the problem, the driver shouted 'Terminus', instructing everyone to get off, before allowing Mr Le Berre on board and driving off with him and his brother as the only passengers.


Mr Le Berre said: 'Yesterday while waiting for the bus in Paris, I laughed because no-one wanted to budge. 

'When nobody moved the driver got up and said: "Terminus! Everybody off the bus!" 'After that the driver came to see me and said, "you and your helper, you can get on, and the others, you can wait for the next one!'


Speaking to France's Huffington Post, he said the bus driver had told him that 'everyone might need a wheelchair one day'.

After waiting for passengers to disperse he had come down to talk to Mr Le Berre and his brother and tell them they could get on the bus. The driver did not know him and had no disabled family members but had simply chosen to show 'a little civility', he said.

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Daily Mail, 1 November 2018

A simplified method for generating Purkinje cells from human-induced pluripotent stem cells

The role of the cerebellum in the coordination of smooth movements is well established. More recently, multiple lines of evidence have implicated this critical brain region in perception, emotion and cognition, via its extensive connections with cortical and subcortical centers.


Impairment of the cerebellar circuitry has been linked to the development of numerous motor and non-motor diseases, including ataxia.


The cerebellum is an intricately ordered structure, containing more neurons than any other brain region. Central among these are the Purkinje cells.

Purkinje cells (red) 

Dissecting the molecular mechanisms underlying this vulnerability requires a suitable model for the study of cerebellar development and degeneration. In the case of humans, brain tissue from affected individuals is difficult to obtain and is typically acquired postmortem, offering only limited insights into an advanced stage of pathology. Mouse models, on the other hand, can be studied throughout development. Nevertheless, they are hampered by species-specific differences in brain structure and gene function, which may affect the interpretation of results.


A big breakthrough in the field of human neurodegenerative disease research to date has come in the form of induced pluripotent stem cells (iPSCs). These cells can be derived directly from patients carrying disease-causing mutations. Importantly, they also have the potential to differentiate into any cell type of the body, offering the unique opportunity to study human neurons in vitro without the need for invasive surgical techniques shedding light on the pathology of numerous neurodegenerative diseases, including several of the spinocerebellar ataxias.


However, studies of cerebellar neurons remain remarkably rare, largely due to the complexities of development and neuronal architecture.


The authors describe a simplified method for the reproducible generation of Purkinje cells from human iPSCs, enabling investigations into disease mechanisms and therapeutic development using disease-relevant patient cells. Past approaches to differentiate cerebellar neurons from hiPSCs have proven lengthy, technically challenging and difficult to reproduce, and it is the author's hope that continued innovations, such as the simplified protocol described here, may make these models more accessible, in order to enable future advances in the field.

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Watson, L.M., Wong, M.M.K., Vowles, J. et al. Cerebellum (2018).
A Simplified Method for Generating Purkinje Cells from Human-Induced Pluripotent Stem Cells https://doi.org/10.1007/s12311-017-0913-2

The 2018 Rare Disease Day video

The official Rare Disease Day 2018 video launches today and is already available in 24 languages, kicking off the international patient-led movement that puts rare diseases in the spotlight.

Rare Disease Day 2018 (28 February) focuses on this year’s theme - research. This year’s video pays tribute to the role patients play in research. The patient community needs researchers. They discover diseases and develop treatments and cures. But researchers also need patients and reply upon their participation to ensure research is meaningful. Patients are not only subjects but also proactive actors in research.


There has been great progress in rare disease research, in part thanks to the advocacy work of the rare disease patient community. However, the fact remains that there are over 6000 rare diseases, an estimated 30 million people living with a rare disease in Europe and 300 million worldwide, but no cures and few treatments available for the majority of these diseases. To help change this, patient involvement in research needs to be taken to the next level.


Rare Disease Day 2018 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

About Rare Disease Day

Over the last 10 years, Rare Disease Day has become iconic as the global campaign for raising awareness of rare diseases. Rare Disease Day is a patient-led campaign launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008. Held on the last day of February each year, it seeks to raise awareness of the impact that rare diseases have on the lives of patients and those who care for them. Rare Disease Day brings together millions of patients, families, carers, medical professionals, policy makers and members of the public in solidarity.


Since Rare Disease Day began, thousands of events have been held throughout the world, reaching hundreds of thousands of people. In 2018, organisations in over 90 countries and regions around the world are participating in Rare Disease Day by holding local events. For the first time ever, Togo and Ghana will participate in Rare Disease Day.

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Submit your photo to the EURORDIS Photo Award!

What does it mean for you, your friends, family or the person you care for to live with a rare disease?


The EURORDIS Photo Award is an opportunity to visually express the reality of living with a rare disease and to share your rare disease story.

Submit your photo before 31 January 2018 to be in with a chance of winning the EURORDIS Photo Award 2018.


The last EURORDIS Photo Contest saw nearly 400 people from 54 different countries around the world submit a photo.


Upload your photo, including a short description of your image and your photo will appear in the gallery.


World-renowned National Geographic photojournalist Marcus Bleasdale will then select a shortlist of 5 photos that will be opened to a public vote.


Online voting for the five finalists will open on 13 February 2018 via blackpearl.eurordis.org/photo-award.


Voting will close and the winner will be announced live at the EURORDIS Black Pearl Awards Ceremony in Brussels on 20 February. The three finalists with the most votes will each receive a prize.


Be part of the action on the night - find out who wins the EURORDIS Photo Award and 12 other Black Pearl Awards on the evening of 20 February by watching a livestream of the Awards Ceremony via blackpearl.eurordis.org/live.

Pimped crutches win student award

A woman from Aalst is the 2017 Student Entrepreneur of the Year thanks to her creative ways of making crutches and wheelchairs more attractive and user-friendly.

Industrial engineer-designer Marie Van den Broeck has won the award, given by Unizo, the organisation that represents the self-employed in Flanders. Her business, My Add On, “pimps” crutches and wheelchairs to make them more beautiful, comfortable and practical.

Van den Broeck is a graduate of the industrial engineer-developer programme at the Kortrijk campus of Ghent University. She designs and distributes add-ons that users can click on to a crutch or wheelchair.

“She convinced the jury with the creative and innovative way in which she tapped into a whole new market, with products she designed herself,” Unizo said.

Her first product is MySleeve, a kind of sock that can be slid over the handgrips of crutches, to make the handles feel soft and prevent pain in the hands. It also has a built-in magnet, which means users don’t have to bend down to pick up a dropped crutch that fell but can pick it up using the other crutch. Van den Broeck is being helped by incubator-accelerator The Birdhouse in Ghent to expand her business.

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By Andy Furniere, journalist, 8 May 2017
http://myaddon.be/#assortiment (see video)

Chicken pox triggers onset of symptoms of SCA7 in child

A FOUR-year-old boy is wasting away in front of his parent’s eyes after chickenpox triggered a rare genetic condition.

Tiago Gouveia, from London, was a healthy toddler up until the age of three when he was exposed to the chickenpox virus while playing with his cousin.

But the virus triggered an inherited degenerative disease called spinocerebellar ataxia type7 that had been lying dormant in the youngster. Because the youngster’s immune system was weakened by the virus, the degenerative condition that causes the central nervous system to breakdown was able to attack.

Tiago’s father, Marvino Gouveia, 39, is a carrier of the disease and has watched his mother, sister and niece battle the illness. The condition causes the breakdown of muscles in the body, leading to the loss of motor skills and speech and, in some cases, blindness.

Poor Tiago’s body has deteriorated so badly that he weighs in at just one stone 10lbs – half the average weight for a four-year-old boy. Marvino said: "This is the fourth generation that I have had to see my family suffer from this illness." It is a curse because actually my mum said that nothing had ever happened before her. "Since then, I have seen her, my sister and her niece suffer with the disease."

"After contact with the chickenpox virus, we noticed that Tiago had started to lose balance and he was falling over a lot." "He was diagnosed and then started to get worse until eight months later he could not walk at all."


"We feel like this condition is bringing him down in age – he is back to being like a two-year-old boy now when he is four." Tiago was taken to hospital in April 2015 after his parents noticed that he kept losing balance. He was diagnosed with the rare condition and since then he has lost the ability to walk or eat and it has also affected his speech. It is an inherited condition caused by a defect in the SCA7 gene, located on the third chromosome.

The youngster has also developed nephrotic syndrome, a condition that causes kidneys to leak protein into urine, which has caused him to struggle even more to keep weight on. The condition affects just one in 50,000 children according to the NHS. He is due to undergo a gastrostomy operation on April 4 at Evelina London Children’s Hospital to help stop his plummeting weight. The surgery means he will have a feeding tube placed in his stomach to ensure his body is getting the vital nutrients it needs to survive.

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By Andrea Downey, Digital Health Reporter, 3rd April 2017
http://globalgenes.org/raredaily/chicken-pox-triggers-onset-of-symptoms-of-spinocerebellar-ataxia-type-7-in-child/

The National Ataxia Foundation unveiled a new logo

The National Ataxia Foundation (NAF), the ataxia patient organization in the USA, unveiled a brand new logo at the annual ataxia conference in March this year. The new logo was designed to encompass the proud past and to prepare to move into a focused future.

The concepts incorporated in the design: the font and the bold color of the "NAF" symbolize strength. The circle connected to the A is to demonstrate NAF's philosophy of bringing ataxia families, researchers, clinicians, and the community together. The gold portion of the circle represents hope for finding treatment and a cure. The light blue represents compassion felt through our entire community.

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http://www.ataxia.org