Making the RARE voice heard
Edinburgh is the most accessible region in the UK for disabled motorists when it comes to refuelling at petrol stations, according to new figures.
The city district has, per head*, the highest number of petrol stations signed up to a unique wireless key fob service which enables drivers to call for assistance from their car.
The ‘MyHailo’ system, which is endorsed by the charity Disability Motoring UK, enables drivers with mobility problems to avoid the humiliation of having to blast their horn or wave out of the window to summon an attendant, or even being verbally abused by other drivers.
Users can easily identify petrol stations in their area through an interactive map and the specially-designed fob allows them to ask for assistance without leaving their vehicle. A beacon in the petrol station kiosk allows drivers to clearly see staff have acknowledged their call and that help is on its way when the light turns from red to green.
There are almost 500 petrol stations nationwide which have the MyHailo system installed and include locations at major retailers such as Asda, Sainsbury’s, Tesco and BP.
Edinburgh (with 1 MyHailo per 46,106 people) tops the table of city districts and counties with Bristol second, Somerset third, Shropshire fourth and County Durham fifth.
There are almost 500 petrol stations nationwide which have the MyHailo system
“Concerns about how to fill up the car can stop disabled drivers going out and can impact on their independence,” says Ran Meyrav head of business development for assistive technology firm Contacta which makes MyHailo. “They’ve also told us about the abuse they receive from other motorists for taking much longer to get help or to struggle out of the car to the pump.
“There are apps on the market that offer a similar service but with them you have to worry about whether you have any signal or charge on your phone, and you may still have to phone ahead to let them know you’re coming. With MyHailo you can always be confident you’re driving to a garage that will help you.”
Ian Oakley, 60, from Coventry has Charcot Marie-Tooth, a progressive neuro-muscular condition which means he needs to use a wheelchair.
“Before I had MyHailo I would have to flash my lights and sound my horn to get someone in the kiosk to notice my car,” he said. “I would get plenty of strange looks from other drivers; some of them would shout at me asking me why I wasn’t moving and I’ve been sworn at many times.
“Worrying about how and when I would be able to fill up did stop me travelling too far. MyHailo works and it works well. It has taken so much stress away.”
45 year old Mona Patel from Greater Manchester has been driving an adapted car since her late 20s because of GNE myopathy, a very rare muscle disease. Before using MyHailo she wouldn’t drive far unless someone could go with her to fill up the car.
“Putting diesel in the car by myself can easily take 20 minutes,” she said. “I have to open the automatic ramp at the rear of the car, disengage my wheelchair, manoeuvre to the pump, struggle to lift the fuel dispenser, which I find very heavy, and even then I can only put in about £5 worth before I get cramp in my hands.
“People give me impatient looks or honk their horn at me to hurry up. I have to wave my Blue Badge at them to make them understand. The MyHailo system is a far more dignified way for me to refuel and the forecourt staff are so helpful. Thank goodness for MyHailo!”
There are an estimated 1.9 million licensed disabled drivers in the UK and around 400,000 adapted vehicles. Ran Meyrav hopes the new figures released by Contacta will encourage many more to get on the road.
MyHailo is endorsed by Disability Motoring UK.
The MyHailo key fobs are available for a one-off cost of £19.95 from:
Contacta enhances customer service by creating and installing a unique range of assistance solutions, including hearing loops, speech transfer products, disability refuelling assistance and secure transfer units. www.contacta.co.uk
For further information please contact Lisa Pettifer
Company Expands Services to Provide Holistic Care for Hemophilia Patients and Caregivers
Frisco, Texas (May 30, 2018) – US Bioservices, a specialty pharmacy and part of AmerisourceBergen, has contracted with MedImpact, an independent, trend-focused pharmacy benefit manager, to dispense specialty prescriptions under the MedImpact Direct Specialty™ program. Under the program, US Bioservices is incorporating the use of myCubixx® temperature-controlled product storage devices for haemophilia patients – a first-of-its-kind offering for commercially-insured patients outside of the clinical trial setting.
As part of the MedImpact Direct Specialty program, myCubixx® allows for convenient, secure and monitored in-home storage for temperature-sensitive medications for MedImpact members. Instead of storing therapy in a home refrigerator that may have limited space and temperature variability, patients can store their treatments in myCubixx®. The unit, which records bleed information and dosage when opened, helps maintain optimal inventory levels and provides real-time data to the patient’s care team and payer, ultimately lowering overall costs for treatment.
With myCubixx®, US Bioservices helps haemophilia patients and their caregivers better manage their illness. The collaboration enhances clinically-coordinated patient care through real-time utilization management and improved inventory control that ultimately lowers healthcare costs.
“While there is no cure for haemophilia, patients can lead long, healthy lives with proper treatment, education and support,” said Kevin James, Vice President Payer Strategy, US Bioservices. “Through our work with MedImpact Direct, we create a seamless patient experience that combines treatment with individualized education and support for those who rely on us most – patients battling lifelong chronic illnesses.”
Providing “best-in-class” pharmacy support for haemophilia patients requires a multidisciplinary approach to care, with involvement from pharmacies, infusion nurses, haematologists, physical therapists and nurse educators. In recognition of this, US Bioservices operates a Haemophilia Center of Excellence for MedImpact members that:
“We are proud to work with US Bioservices to offer best-in-class treatment, education and support services for our members affected by haemophilia,” said Greg Watanabe, President and Chief Operations Officer for MedImpact. “By collaborating with US Bioservices, we are better able to help support our members’ adherence to therapy, which leads to improved condition management and quality of life.”
Haemophilia is a genetic condition in which patients lack a specific clotting factor in their blood. There are two main types of inherited haemophilia: A and B. In haemophilia A, factor VIII is deficient, and in haemophilia B factor IX is deficient. The amount of clotting factors in the blood determines if one has mild, moderate or severe haemophilia. Haemophilia affects approximately 20,000 individuals in the United States, and primarily affects men.
AmerisourceBergen provides pharmaceutical products, value-driving services and business solutions that improve access to care. Tens of thousands of healthcare providers, veterinary practices and livestock producers trust us as their partner in the pharmaceutical supply chain. Global manufacturers depend on us for services that drive commercial success for their products. Through our daily work—and powered by our 21,000 associates—we are united in our responsibility to create healthier futures. AmerisourceBergen is ranked #12 on the Fortune 500, with more than $150 billion in annual revenue. The company is headquartered in Valley Forge, Penna. and has a presence in 50+ countries. Learn more at amerisourcebergen.com.
About MedImpact Direct Specialty™ Program
MedImpact Direct, LLC manages a program on behalf of MedImpact that offers an easy-to-use drug benefit for maintenance and specialty drug therapies through a network of pharmacy partners. We serve as one source to control costs, utilisation and the member experience. Prescription-level utilisation management for all therapies, including limited distribution drugs, aligns dispensing with formulary, clinical guidelines and benefit design rules. Our model was created to be a consumer and plan sponsor advocate by providing more control and oversight between the physician/prescriber and pharmacy dispensing partners. MedImpact Direct, LLC is a wholly owned subsidiary of pharmacy benefit manager (PBM), MedImpact Healthcare Systems, Inc.
MedImpact Healthcare Systems, Inc., an independent, trend-focused PBM™, is the nation’s largest privately held PBM, serving health plans, self-funded employers and government entities. Our business model is unique. We focus on effectively managing client pharmacy benefits to promote Lower Cost and Better Care through One Source. Our model aligns us with our clients. We help promote prescribing of lower-net-cost, medically appropriate drugs with fulfillment at the most appropriate participating pharmacy providing competitive pricing, good value and high-quality service. Our number-one goal is client satisfaction by providing flexible solutions and member-centric products with a focus on lowest-net cost and quality outcomes.
Sobi puts on purple-themed funfair on ‘Wear Purple for JIA’ day to raise funds for juvenile idiopathic arthritis (JIA)
Today, as part of its commitment to supporting people with rare diseases, Cambridgeshire-based speciality healthcare company Sobi UK and Republic of Ireland (RoI) held a purple-themed fundraising funfair event in support of the juvenile idiopathic arthirits (JIA) awareness day ‘Wear Purple for JIA’. The event raised £352.62, which was tripled by Sobi UK and RoI, bringing the total amount donated to £1,057.86.
‘Wear Purple for JIA’ day is the annual fundraising and awareness-raising campaign from JIA at NRAS, the arm of the National Rheumatoid Arthritis Society (NRAS) specifically dedicated to helping those affected by JIA.
In line with the purple theme, visitors to Sobi’s offices in Granta Park were greeted by an eye-catching purple balloon archway. The balloons directed them inside, where they could make donations to participate in purple-themed games such as ‘purple hook-a-duck’, ‘blackcurrant pong’, guessing the number of purple sweets in a jar, purple hula hoop and throwing balls into purple buckets. Winners could claim purple-themed prizes, including purple wine.
As well as the games, funds were also raised through a purple-themed cake sale, and ‘Wear Purple for JIA’ merchandise. Showing their dedication to raising awareness of JIA, the Sobi team were all dressed in ‘Wear Purple for JIA’ t-shirts and merchandise, and fairy wings.
Anne Gilbert, Youth and Family Services Manager at NRAS said: “Although Juvenile Arthritis not a well-known condition, JIA is a debilitating disease which affects approximately 12,000 to 15,000 children and young people in the UK. It is great to see Sobi joining forces with our supporters across the country by taking part in ‘Wear Purple for JIA’ day, raising awareness of the condition and funds to help us continue to improve the information we provide and give support to all children with JIA and their families.”
JIA is a form of inflammatory arthritis which starts in children under 16, but may continue into later life. It is unclear what causes it. , There are seven different types of JIA, with a variety of different symptoms which can include joint pain, rashes or fevers.1,2 JIA is thought to affect approximately 1 in 1,000 children in the UK under the age of 16, with between 1,000 and 1,500 children diagnosed each year.1
Neil Dugdale, Sobi’s General Manager for the UK and RoI, said: “Sobi supports a wide range of charities who provide support for those affected by rare diseases, and we place patient value at the heart of what we do as a company. We are proud to be able to help JIA at NRAS continue their inspiring work by wearing purple to raise awareness of JIA, and by putting on our fundraising event.”
Sobi specialises in innovative treatments for rare diseases, including systemic-onset juvenile idiopathic arthritis (SJIA), the rarest of the seven JIA sybtypes.2 Despite its rarity, SJIA has the highest mortality rate, reported to contribute approximately two thirds of the total mortality rate for JIA.,
 JIA at NRAS. What is JIA? Available at: https://www.jia.org.uk/what-is-jia- (Accessed May 2018)
 Grevich S & Shenoi S. Update on the management of systemic juvenile idiopathic arthritis and role of IL-1 and IL-6 inhibition. Adolescent Health, Medicine and Therapeutics 2017; 8:125-135
 Woo P. Systemic juvenile idiopathic arthritis: Diagnosis, management, and outcome. Nat Clin Pract Rheumatol 2006; 2(1):28-34.
 Wallace CA & Levinson JE. Juvenile rheumatoid arthritis: Outcome and treatment for the 1990s. Rheum Dis Clin North Am 1991; 17(4):891-905
Sobi™ is an international speciality healthcare company dedicated to rare diseases. Our vision is to be recognised as a global leader in providing access to innovative treatments that make a significant difference for individuals with rare diseases.
The product portfolio is primarily focused on treatments in Haemophilia and Speciality Care. Partnering in the development and commercialisation of products in specialty care is a key element of our strategy. Sobi has pioneered in biotechnology with world-class capabilities in protein biochemistry and biologics manufacturing. In 2017, Sobi had total revenues of SEK 6.5 billion and approximately 850 employees. The share (STO:SOBI) is listed on Nasdaq Stockholm. More information is available at www.sobi.com.
For more information please contact
Alkaptonuria (AKU) is a destructive genetic disease. Due to a rare genetic mutation, the human body is unable to break down an amino acid called tyrosine, contained in the protein that we eat. As a result, a toxic acid – homogentisic acid – builds up in the blood. This attacks bones, cartilage and tissue, making them black and brittle. Early onset osteoarthritis can destroy every joint in the body. Patients can also suffer from prostate stones and aortic valve disease. It is estimated that one in 250,000 people worldwide suffer from the disease.
AKU was first identified as an inherited disease in 1902. When the AKU Society was founded in 2003, there was still no proven effective treatment. However, many patients use a drug called nitisinone on an ‘off-label’ basis. (In other words, they take an unlicensed drug because they believe it has positive effects.) In the mid-2000s, the National Institutes of Health organised trials in the USA. Though patients reported that nitisinone helped them, the trials failed. Too few patients were recruited and the criterion for success was not precise.
In 2012, the AKU Society spearheaded an international consortium called DevelopAKUre to organise new clinical trials. DevelopAKUre involves three clinical sites (the Royal Liverpool University Hospital, the National Institute of Rheumatic Disease in Piešt’any, Slovakia, and Paris’ Hôpital Necker), as well as researchers from the Universities of Liverpool and Siena, the biotech Nordic Bioscience and Bratislava’s Biomedical Research Centre. In addition the consortium includes the pharmaceutical company Sobi, which supplies nitisinone for the trial, clinical trial experts from a company called PSR Group, and our French sister society ALCAP. Together, we raised six million euros from the European Commission’s FP7 programme and received five million euros in co-financing.
We believe that this is the first time that a British patient group like the AKU Society has been the driving force behind international drug trials. With regulations restricting contact between pharmaceutical companies and patients, patient groups can play a key role in the success of clinical trial design, recruitment and retention, helping to ensure patient needs are met. We have built relationships with and between AKU patients across Europe through our existing social media channels and through the online forum RareConnect.
According to Datamonitor, 90% of clinical trials are delayed because it is difficult to recruit patients.[i] The AKU Society handled patient recruitment for DevelopAKUre. Through an online advertising campaign, presentations at scientific conferences and an email to 7,000 specialist doctors, we managed to recruit half of the known European AKU patient population for the trials. We are equally proud of our retention rate. Of the 138 patients who started our current clinical trial in 2015, 125 are still on board.
Our first trial, SONIA (Suitability of Nitisinone in Alkaptonuria) 1, lasted for four weeks in 2013. Forty patients took part. Over the course of the trial, which was held in Liverpool and Piešt’any, we were able to effectively calculate the optimum dose of nitisinone which most reduced homogentisic acid in the blood. We are now using this dose for our current clinical trial, SONIA 2. Held in all three clinical sites, this trial started in 2015 and is due to finish in January 2019. By comparing the progress of AKU in patients on nitisinone with an untreated control group, we want to find out if nitisinone can slow or stop the damage caused by the disease. If successful, we shall apply for marketing authorisation from the European Medicines Agency. This will allow nitisinone to be marketed in Europe for use in AKU.
AKU Society also runs an observational study, SOFIA (Subclinical Ochronotic Features in Alkaptonuria). This ran in 2017 and was intended to work out the age at which AKU symptoms begin. A paediatric observational study is in the pipeline too where we would hope to discover when - or if - children should start taking nitisinone.
Meanwhile, the AKU Society has been in charge of dissemination for the DevelopAKUre trials. Our funding requires that we promote the trials as widely as possible. By taking the lead on dissemination, we also get the chance to meet new partners with new ideas. In addition to our main website, we maintain the DevelopAKUre microsite, this is full of information about the consortium and is regularly updated with current news. Patients are also alerted via email about major developments as they occur.
Finally, we continue to raise awareness for DevelopAKUre at major international conferences. Just this year, we have been to the Global Orphan Drugs Congress Europe, the Annual International Medical Students Meeting, the Royal College of Nursing Congress, the Osteoarthritis Research Society International World Congress and the European Conference on Rare Diseases.
If you would like to find out more about the AKU Society presenting DevelopAKUre at a conference/event, please contact:
Reece Edmends at firstname.lastname@example.org
 ‘Online recruitment is streamlining clinical trials’, Datamonitor, July 2008
June 13th is an important date for people with albinism everywhere. It’s International Albinism Awareness Day, when people with albinism celebrate together and raise the positive profile of this rare and widely misunderstood condition. Albinism means partial to severe visual impairment for those living with it.
The United Nations has officially recognised International Albinism Awareness Day as a global event since 2015, following a resolution adopted by its General Assembly in 2014.
While we’re seeing progress in gaining a greater understanding of albinism in some respects, there is still much to do in tackling the many forms of discrimination and stigma that people with albinism face. I feel very strongly that this kind of discrimination should be stamped out.
Albinism is still, as the United Nations says, profoundly misunderstood, both socially and medically. And these problems do exist in the UK and the Republic of Ireland as much as elsewhere.
Albinism is a genetically inherited condition which is most noticeable because people with albinism have white – or very pale – hair due to the reduction of pigment in their hair, eyes and skin. It also means the person living with it suffers from partial to severe visual impairment and photophobia (a severe sensitivity to light). Nystagmus is a common factor among people with albinism, too.
People from all ethnic groups can be affected by albinism, and the Albinism Fellowship supports all of these groups with our services.
#TuesdayTakeover with Rare Revolution
This year, the Albinism Fellowship has a message of support for our charity’s members throughout the UK and Ireland. We’re using the social media and communications channels of charities and media outlets such as Rare Revolution magazine www.rarerevolutionmagazine.com to get our message across this year, and we are grateful for their support. On Tuesday 12 June, we will be posting from Rare Revolution’s social feeds on #takeovertuesday, please look out for our Tweets and Facebook updates. Follow us on 12 June on Twitter @RareRevolutionMagazine and via @RareRevolutionM as well as on Facebook.
We look forward to engaging with all the whole Rare Revolution Community.
New for 2018 "Understanding Albinism Brochure
At the Albinism Fellowship, we would remind our members of the range of services we can offer to help, and would encourage people with albinism who are not part of the Fellowship to join up.
New for 2018 is our ‘Understanding Albinism’ brochure which is already proving a valuable source of information for people with albinism, parents, healthcare professionals, visual impairment professionals, school teachers and others.
This booklet is already being very well received. Existing members should already have received their copy by now. Any new members joining us will be posted a copy of Understanding Albinism as well as our members’ magazine, Albinism Life.
And there will be an invitation to take part in a range of useful and enjoyable events, including our regional gatherings and our national conference in 2019.
Thames Valley Get-Together
Members tell us that while our online resources are of great benefit, meeting other people with albinism and their families face-to-face at our events is often the most valuable resource.
We have a range of opportunities this summer for new and existing members to do just that, including the Thames Valley Get-Together in Taplow, Bucks – which will be held on 23 June, just days after International Albinism Awareness Day. We’d love to see you there.
Finally on my guest blog, a “shout out” to our fund-raisers who continue to do an immense amount to support our small charity, which is run entirely by volunteers. If you would like to get involved in fund-raising for the Albinism Fellowship – which helps us run essential events like the ones above - or sponsor us, please do get in touch.
Your Support for the Albinism Fellowship is always very welcome, thank you so much.
Chair, the Albinism Fellowship
About International Albinism Awareness Day
The global awareness day International Albinism Awareness Day was launched by the United Nations in 2015. It was adopted June 13th as the official International Awareness Day following a resolution adopted by the United Nations General Assembly in 2014.
According to the United Nations, albinism remains a condition that is profoundly misunderstood, socially and medically.
Albinism is a genetically inherited condition which is most noticeable because people with albinism have white – or very pale – hair due to the reduction of pigment in their hair, eyes and skin. It also means the person living with it suffers from partial to severe visual impairment and photophobia (a severe sensitivity to light).
The Albinism Fellowship offers information about albinism as condition on its website via this link, including FAQs, PDFs and Word documents which can be downloaded. The charity’s new Understanding Albinism brochure provides a more in-depth resource.
· For more information, please contact Andrew Bennett, PR Coordinator for the Albinism Fellowship, on 07796 178346.
When I met Michael in October 2016 I was blown away by his passion and commitment to his charity Muscle Help Foundation and so we were absolutely delighted when they joined our #RareRevolution as charity members.
Working with Michael and the Muscle Help team over the last 18 months to promote their amazing organisation has been a real privilege and we are excited to be sharing with you some more of their achievements over the next few months.
In his recent TedTalk Michael talks about the importance of human connectivity, kindness, compassion, hope and above all love regardless of who you are.
We recommend taking a look for yourselves this is 20 minutes that should be viewed by everyone!
Rare Revolution Editor