It all started 5 years ago when I began with awful symptoms of an unexplained chronic pain/burn inside my vagina. At first I thought it was a yeast infection, but after several studies that indicated there was no bacteria or anything that suggested a normal infection, I began to worry deeply. At one point, a very well-known gynaecologist in Mexico City (my hometown), told me that it was all in my head and that there was nothing wrong with me. “Ok, so now I’m going crazy?”, I said.
Looking for answers and self diagnosis
After two years of searching for doctors and specialists in Mexico, after spending all this energy, time and money, I gave up completely. Pretty much hating everything and everyone in my life. I swear to god that if one more person told me if I’ve tried alternative medicine or essential oils, I was going to hunt them down. It’s really a no brainer, of course I’ve tried EVERYTHING!
One day I was watching an episode of Sex and The City where I heard for the first time the term Vulvodynia. In that episode Charlotte was diagnosed with it, and she mentioned about it at brunch with the girls. I remember all four of them laughing, not taking the matter seriously, and, the worst part was when Carrie asked Charlotte if it hurts, and she said no. I have nothing against the show, in fact I’m a huge fan, but I was extremely disappointed how they addressed a serious medical condition. Not only does it hurts like hell, sometimes you can’t even sit down because anything that puts pressure on the vulvar area aggravates the pain.
When I googled about Vulvodynia I started extensively researching the subject, it was like seeing the light at the end of the tunnel.
So, what exactly is Vulvodynia?
To put it in simple words it's vulvar chronic pain with no known cause. It is persistent, unexplained pain in the vulva (the skin surrounding the entrance to the vagina). It can affect women of all ages and can occur in women who are otherwise healthy. Vulvodynia can be a long-term (chronic) problem that’s very distressing to live with, but much can be done to help relieve the pain.
Everything suddenly made sense, and it was such a relief to know that I wasn’t crazy and that there are in fact doctors who know about it, specialists that are investigating and researching on how to find better and new treatments. However, these special people were not in Mexico at the time, they were in the US.
My diagnosis and living with the condition
Luckily I was able to go to Florida and meet with incredible physicians. A gynaecologist specialised in vulvology and a team of pain management specialists as well. I started my treatment immediately with hope and positive vibes, even though from the beginning they told me that there are no guarantees. Not every treatment works the same, every woman is different, every body functions different. It might not work at all for some women. In my case some worked and some didn’t. It’s been five years and I’m still struggling with the pain, sometimes it gets better and some days I can’t even get out of bed.
The value of information
What keeps me going is the fact that I have more information now, and the fact that there are many women suffering from this as well. I’m not alone. I’m still seeing the doctors in Miami and I found a gynaecologist in Monterrey, Mexico. I also work with an acupuncturist, and I tried physiotherapy. There are certain tricks and home made hacks that help me at rough times, like coconut oil as personal lubricant. Hot or cold patches help to soothe the area and keep your mind off the pain. Essential oils work sometimes, magnesium for muscle spasms is great and eating an irritant free diet is very helpful. Breaking up with sugar is something to really think about.
Sex can be challenging, I’m not going to lie, but it’s not impossible. At the end of the day, one only needs a loving, caring and patient partner. Communication is key. If there is one thing that I’ve learned it is to listen to my body and we all know that there are other ways to give and receive pleasure.
What I’ve come to realise from this challenging journey is that the more I try to hide it or resist it, the more I try to pretend that I’m ok, the worse it gets. So, that’s why I’m breaking the silence, I’m making peace with the pain. I know the pain is there, I acknowledge it, and I’m letting it go.
I can proudly say that I’m the first advocate for Vulvodynia in Mexico. I started an Instagram account to raise awareness, let people know that this is real, it’s a real condition and a lot of girls and women are battling with it. I invite you to follow my story through @peacewithpain, a safe platform that aims to support other women, even if they only need to speak up and be heard.
Important things to know about Vulvodynia
New report reveals that while undiagnosed, rare disease patients have cost the NHS in excess of £3.4 billion
New research, commissioned by healthtech company Mendelian and undertaken by Imperial College Health Partners (ICHP), has, for the first time, shed light on the cost and resource impact the lengthy process of diagnosing rare diseases is having on the NHS. The research, which was collated using the Hospital Episode Statistics (HES)* NHS Digital database of over 60 million patients, found that over the last 10 years, rare disease patients during the diagnosis period have cost NHS England in excess of £3.4 billion. Using an analysis based on a cohort of 258,235 patients diagnosed with a rare disease during a 12 month period (2017/2018), the research focused on hospital visits and activity in the lead-up to diagnosis over the prior 10 years.**
An analysis of the data found a higher number of hospital visits and accompanying costs per rare disease patient when compared to the general patient population. Although the rare disease cohort included in this assessment only made up 0.94% of the HES reported hospital population during 2017/2018, over the preceding 10 years, they cost an average of over 2X more per patient compared with other patients who had a hospital visit during that year - requiring more resources on average and more costs per treatment (indicating an average individual difference of over £7,000). Furthermore, in a comparison of 64 inpatient and outpatient procedures, the total cost for the rare disease patient cohort outweighed the costs of the comparative population in the majority of procedures.
On a global scale, it is estimated that rare diseases affect 350 to 400 million people and around 1 in 17 people will have a rare disease at some point in their lives. Previous studies have also shown that rare disease diagnosis may take between 5 to 30 years, depending on the disease and healthcare setting and in the UK, it takes an average of 5.6 years, eight clinicians (including four specialists) and three misdiagnoses before the correct rare disease is identified.*** Commissioned by Mendelian, a healthtech company building the world’s largest repository of information to help accelerate the diagnosis of rare diseases, the research builds on this existing knowledge to give a clearer picture of just how costly identifying these types of illnesses can be to healthcare systems.
Julia Wilkins, Head of Data and Analytics at Imperial College Health Partners said: “The costs to the NHS highlighted by the research are in fact only the tip of the iceberg, due to the fact that routine healthcare data does not yet fully capture the true extent of the thousands of different rare disease classifications that can pass through the system. For example, the International Classification of Diseases (ICD-10) is believed to only account for approximately 5% of known rare diseases. Therefore, these recent findings might well be extrapolated in order to anticipate a complete picture of the impact of diagnosing rare diseases on the NHS, both in terms of cost and resource utilisation, which is most likely considerably larger than the estimate outlined.”
To read the full report click the image below:
* The HES data reports were developed by ICHP in partnership with Harvey Walsh Ltd (ICHP data partners) via a data sharing agreement with NHS Digital (DARS-NIC-05934-M7V9K)
** Please note, the research data as described above is based on hospital activity and visits including all admissions, outpatient appointments, hospital day cases, and A&E attendances at NHS Hospitals in England. It does not include drug treatment costs (as this occurs post diagnosis) or primary care data (GP visits).
Mendelian is a technology company building the world’s largest repository of information to help accelerate the diagnosis of rare diseases. The company is a team of eight based in London, with a wealth of experience across a range of complimentary disciplines including business, machine learning, data science, design and medicine. Currently Mendelian’s free service has been used by clinicians and specialists (geneticists, pediatricians, neurologists, cardiologists) across a range of disciplines in more than 150 countries.
Imperial College Health Partners (ICHP) innovates and collaborates for a healthier population. We turn the potential of innovation into reality to help solve pressing challenges by collaborating across the health sector. By connecting a unique network of health experts we can accelerate the adoption and spread of innovation amongst our member organisations. We are a partnership organisation bringing together NHS providers of healthcare services, clinical commissioning groups and leading universities across North West London. We are also the designated Academic Health Science Network (AHSN) for North West London and a member of The AHSN Network.
For media enquiries relating to the research please contact Natalie Hudson on Natalie.firstname.lastname@example.org or 07957 699884.
DEBRA Charity Launches Clinical Trial Exploring Cannabinoid Oil to treat Pain and Itch in Adults with Epidermolysis Bullosa
UK based charity DEBRA, the only national charity supporting people suffering from EB, is launching a patient driven clinical trial to investigate the therapeutic potential for cannabinoid-based medicine in treating pain and itch in EB.
EB is a genetic skin condition which causes the skin to blister and tear at the slightest touch. Blisters need to be drained and dressed every day – a painful procedure that can take several hours and is harrowing for both EB sufferers and carers. In some cases, internal linings and organs are affected, and complications as a result of infection and extensive scarring are common. Some types of EB can be fatal in infancy and others are severely life-limiting. There are over 5,000 people suffering from EB in the UK and half a million worldwide.
The trial is taking place at the Center for Blistering Diseases, University Medical Center Groningen, in the Netherlands, and is being run by Investigator Nicholas Schräder and Professor Marcel Jonkman. It’s a three-year study involving 15 participants being treated with cannabinoid-based medicine (CBM) and is only open to people 18 years old and over living with EB in the Netherlands. The CBM medicine being used in the study contains naturally derived compounds, phytocannabinoids, from the cannabis plant. The trial aims to gain an insight into whether CBM medicine could ultimately improve the quality of life of people with EB.
The current treatment for the relief of pain and itch caused by EB, is the prolonged used of opiates and anti-inflammatories, which are known to lead to unwanted and unnecessary side effects. On the trial the plant-based cannabinoid will be extracted from the cannabis plants and incorporated into an oil and administered as droplets under the tongue of the participants. While on the trial participants will report monthly on pain, itch and changes in their quality of life.
We are extremely pleased to fund this clinical trial, particularly in light of the government’s decision to legalise some forms of medical cannabis
Caroline Collins, Director of Research at DEBRA
Caroline Collins, Director of Research at DEBRA, said: “We are extremely pleased to fund this clinical trial, particularly in light of the government’s decision to legalise some forms of medical cannabis. This trial is designed to improve the quality of life for people suffering from EB by alleviating two of the most debilitating symptoms of the condition, pain and itch. Anecdotal reports from people suffering from EB suggest that cannabinoid-based medicines (CBMs) are effective for pain and itch symptom control. The clinical trial will start to gather the scientific evidence needed to prove that CBMs are an effective treatment for pain and itch caused by EB and will begin the work towards a new treatment protocol and evidence-based guidelines for the management of these debilitating symptoms, which we hope will improve the quality of life for many.”
DEBRA is the only national charity supporting people suffering from EB in the UK. The charity provides a wide range of care and support for individuals and families living with EB. It also funds pioneering research to find effective treatments and ultimately a cure for EB. DEBRA was founded in 1978 by Phyllis Hilton whose daughter Debra had EB – the charity was the world’s first EB patient support group. The charity is celebrating its 40th anniversary on Tuesday, 27 November and as part of the celebrations is announcing the appointment of Falklands war hero and war veteran Simon Weston CBE as its new president.
Simon Weston, CBE and President of DEBRA, said: “I am delighted to become the new President of DEBRA and I am looking forward to supporting the sufferers of this terrible skin condition. People with Epidermolysis Bullosa (EB) face constant, debilitating symptoms. I understand something of the pain and suffering that people with EB endure every day. Having suffered 46% burns on my body when injured during the Falkland War in 1982, I had to overcome not only my injuries but undergo 98 operations. For many years I was taking opiates to deal with the pain from both injuries and surgery. I experienced the side effects and the negative impact of long-term use of opiates on my body. An alternative method of pain control will be a welcome relief.”
To find out more about DEBRA and the clinical trial visit: www.debra.org.uk/cannabinoids
Max Appeal highlights the need for early diagnosis
Among the most powerful presentations of the Summit was the keynote panel moderated by physician anesthesiologist and now NORD Education Advisory Committee advocate, Dr. Anita Gupta. Dr. Gupta reflected upon her journey as a rare disease survivor, “Nobody cares how much you know until they know how much you care.”
Nobody cares how much you know until they know how much you care.
Dr. Anita Gupta
The common element in what each of them conveyed was the power of their “voice”. By focusing their efforts on education of rare diseases with determination these young leaders are helping to build a community that is influencing the industry and making impactful changes. Their reflections remind us of the importance of amplifying the patient voice and being a compassionate advocate.
Each year, the highlight for me at the Summit is the opportunity I have to connect with patients, their families and patient advocates. For any direct stakeholder in rare disease research or patient care, it is so important to hear from and try to understand patients and the long road they have traveled to diagnosis and onward to treatment. It is also stunning to hear from caregivers and care partners. Their dedication to those they care for is astounding.
Dr. Gupta’s message was compelling, as a physician who was a patient at the face of a scary medical journey over her life, she indicated that, “Investing in the human relationship with patients is so important. When doctors are empathetic, patient outcomes are better.” Dr. Gupta emphasized that doctors really need to take a step back and look at things with the eyes of the patient. Her message really resonated ─ each of us involved in advancing treatments and medical care in the rare disease space must think about the patient first. The impact at every touchpoint is critical insight to really understanding the patient journey and engaging with them along the way. It is through education, awareness and the tremendous work patient advocates do that we can learn to understand the complexities of a rare disease. This understanding will allow us to effectively contribute and help advance new drug development for rare diseases.
It has been tremendous to see gene therapy come full circle in my lifetime, to see its ability to transform different disease communities, far beyond what we thought was initially possible almost three decades ago
The importance of the collaboration for industry and patient advocacy was apparent throughout the Summit. Nadia Bodkin, a trailblazer of rare advocacy, echoed this in a panel on “Patient Access, Recruitment & Retention,” Nadia noted, “Every patient community is different. Industry really needs to shadow patients to get that valuable perspective.”
In my role at UBC, I work with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. By being on the ground, I am able to help alleviate trial-related patient and caregiver burden by offering study participants the option of having site visits conducted at their home through our clinical trial nursing services; and by providing participant travel services to study visits using our concierge service. We work closely with patient advocates and cast a wide net utilizing social media to connect people who suffer from similar diseases and speed drug development by building awareness of clinical trials.
Despite living with this impairment for six years, I can still barely understand it myself and the closest diagnosis I have come to in my own research is I have an auditory processing disorder. That’s what I usually tell new people in my life and explain to them that it doesn’t matter how loud they talk, if I can’t read their lips, I don’t know what they ‘re saying.
It all started the summer before my senior year of high school. It happened gradually, but it was talking on the phone that made me realise something wasn’t right. I’d have my phone up to my ear and hear someone talking but I couldn’t for the life of me understand what they were saying. I’d hear a word here and there, but basically, it all sounded garbled.
I also noticed (and everyone else) that I was saying “what” more often. Since I was already deaf in my left ear, my parents just assumed I was losing my hearing in my right and immediately hooked me up with a hearing aid. All that did was give me a headache because it amplified everything, yet I was still constantly asking people to repeat things.
I was confused because how could I hear someone clicking their pen behind me, opening a bag of chips, the AC running, etc., but not someone screaming my name. In fact, everything sounded ten times louder than usual. I’d get startled by turning the sink on because it sounded like I was standing next to a waterfall, I’d step outside and become overwhelmed by all the street noises, someone would drop something and it’d sound like a bomb went off in my ear.
I became the deaf girl and yet, I couldn’t help but respond to sounds, especially since I was now overly sensitive to noises. My friends were noticing this too and began to think maybe I wasn’t deaf, but it didn’t explain why I was having difficulty following conversations.
I don’t remember when I realised what my hearing problem was, but over the years, I got better at understanding how my ears work. It’s like the sound of your voice goes into my ear, then up to my brain, but then the words get lost. If I close my eyes when you’re talking, I will hear what sounds like a garbled voice but no matter how hard I try to make out a word, I usually can't.
No, I don’t know why sometimes I can’t hear you calling my name or why sometimes I can hear you talking in the other room. If I’m listening to music, I can still hear the beat, the rhythm, and the type of music it is, but unless I heard the song before, I don’t know the lyrics. I can recognise songs I know, though, and learn new ones if I listen to them a lot.
I don’t remember when I realised what my hearing problem was, but over the years, I got better at understanding how my ears work. It’s like the sound of your voice goes into my ear, then up to my brain, but then the words get lost
The only times I found that I don’t hear the music playing is when there’s a lot of other background noise. It’s like my brain can only pay attention to so many different types of sounds at the same time.
I’m lucky that because I was deaf in my left ear basically my whole life, I was forced to learn how to lip read as a kid. Without this ability, I would’ve had a more difficult time adjusting to my new problem. It’s hard at times because it’s like I’m in-between hearing and deafness, and lip-reading isn’t always easy but I try my best or, at least, pretend too.
Hanging out with my friends, I sometimes forget about my disability, as do they, because communication isn’t hard with people I’m comfortable with. They too have learned how to talk to me and if I really can’t understand a word, they’ll spell it out for me.
Maybe in the future, I’ll have an answer to what’s up with my hearing or, at least, find someone like me, but for the meantime, I just go through my day like everyone else, except maybe with a few extra “whats”.
The #RareYouthProject first project took place in 2017 finishing in March 2018 at a dedicated Youth Event in London where around 50 young people and their families took part in the Rare Youth Issue launch.
The finished 2017/18 magazine is outstanding and a testament to the hard work and passion that each member of the youth editorial team put into the project
While LifeArc tends to be involved early in the process of developing new drugs for patients, a collaboration like this reminds us why we do what we do and allows us to better understand the needs of those affected by a rare disease
“Following on from the success of our pilot programme we want to secure this project for future years to ensure our talented young rare community can continue to be heard and have access to the long-term benefits that come from the work experience, mentoring and friendships made during this programme. We are thrilled to have the support of LifeArc as Silver Sponsor of our 2018/19 Project and hope other companies will join them in supporting our annual programme.”
The 2017/18 Rare Youth Issue can be read here https://bit.ly/2IBjAhL If you would like to find out more about supporting this year’s #RareYouthProject please contact Rebecca on email@example.com
Rebecca Stewart, Title, NRG Collective
Tel: +44 (0) 13398 83838
Mobile: +44 (0) 7795663589
LifeArc Press Contact
Glenn Mursell, Communications, LifeArc
Tel: +44 (0) 207 391 2754
Mobile: +44 (0) 7799 261 060
An independent not for profit company NRG Collective Ltd are dedicated to making rare voices heard. Through their free publications Rare Revolution and the Rare Youth Edition they are raising awareness and providing valuable information for the whole rare disease community.
LifeArc is a medical research charity with a 25-year legacy of helping scientists and organisations turn their research into treatments and diagnostics for patients. LifeArc is pioneering new ways to turn great science into greater patient impact. The charity brings together a network of partners to tackle specific diseases and directly funds academic and early stage research. So far, LifeArc’s work has helped to develop four drugs (Keytruda®, Actemra®, Tysabri® and Entyvio®) and a test for resistance to carbapenems. www.lifearc.org Twitter @lifearc1
History of CSS Research
These patients wanted research to improve this outcome, and wanted alternative treatments to surgery. The first steps to this was establishing what was different in the DNA of these patients and their tumours and in 1995 in a partnership led by Professor Burn with collaborators at the Sanger Institute, a difference was found. This gene locus was called CYLD. In 2000 CYLD was cloned, and in 2003 Prof Alan Ashworth published one of three papers in the journal Nature highlighting CYLD’s function.
It has been a great privilege to work alongside Professor Ashworth and Professor Chris Lord, and in 2011 we highlighted a dependency on an enzyme called TRK in cylindroma cells. This enzyme, when blocked in cylindroma cells in the lab, would kill them off. But would it work in patients? The next seven years involved delivering a clinical trial to Newcastle patients that used a drug that would block this very enzyme.
For more information on this report read here
Importantly we have developed a roadmap for future trials, and this is relevant at a time when newer drugs that block TRK are being developed.
Lessons learned: Perseverance, patience, and patient partnership are crucial to take steps forward for rare disease and to keep going.
28th – 29th November 2018
Congress Centre Basel
BioData World Congress transpiring on the 28-29th November in Basel is the worlds-leading event for individuals working within Big Data and AI in life sciences and healthcare research. to drive forwards big data use in Pharmaceuticals.
The event was originally created with the support of leading institutes such as EMBL-EBI, Genomics England, Sanger Institute and the NHS and has since been commissioned by Roche and Merck along with others. Biodata brings together global heads of IT, data, analytics, digital, CDOs, CIOs, bioinformatics, genetics, oncology, rare disease, computational biology, translational medicine etc from leading pharmaceutical companies. BioData takes place over 12 tracks this year, including: Storage, IT and Management, Bioinformatics, AI and Machine Learning, Big Data in Cancer, Data Integration & Infrastructure, Big Data in Rare Diseases, Analytics Platforms and Data Sets, Next Gen Sequencing, Data Management, Genomics in Clinical Trials, Real World Evidence and Precision Medicine along with a Hackathon and two Start up Streams.
We have moved the 2018 edition to Basel as the Canton of Basel-Stadt are investing in the event long term. This will put us on the doorstep of a number of leading industry individuals such as Novartis and Roche.
There will be 200 speakers and 700+ attendees. In terms of speakers 70% will be pharma, 20% research institutes, 10% Academia. 70% of the attendees will be European based, 20% US and 10% rest of world.
The Biodata World Congress presents a lucrative opportunity for you to meet new customers and to grow your client base as you benefit from being able to sell to both our buy-side and sell-side audience.
Bertrand Bodson, Chief Digital Officer, Novartis
Sue Hill, Chief Scientific Officer, NHS England
Philippe Marc, Global Head of Integrated Data Sciences, Novartis Institutes for BioMedical Research (NIBR)
Diego Ardigo, Global Head of Rare Diseases, Chiesi
Vikram Bajaj, Managing Director, Forsite Capital Management, Former CSO Grail, Co-Founder, Verily (Google Life Sciences)
Ian Pepper, CTO/Head of Strategy and Integration Architecture, Novartis
Peter Speyer, Global Head of Real World Evidence Solutions, Novartis
Dirk Voelkel, Chief Technology Officer, GE Healthcare
Slavé Petrovski, VP and Head of Genome Analytics, AstraZeneca
Govinda Rao Bhisetti, Principal Investigator and Head of Computational Chemistry, Biogen
Giving complete control of topics, assignments and design to the young editorial team The Rare Revolution Team in collaboration with the RareTogether project support all aspects of their journey to support the successful launch of their final publication.
We are proud to continue our support of this great initiative, as part of Sobi’s commitment to the rare disease community. It is wonderful to see such a brilliant 2017/2018 Rare Youth issue of the magazine, and to hear from the vital and vibrant young voices which make up the community. We would encourage as many young people as possible to get involved in the coming year, to share their stories, and continue to build on the success of the #RareYouthProject
“The project’s aim is not purely about ‘powering up young voices’ but also provides participants with valuable real-life work experience often not available to young people with complex health needs as well as an opportunity to meet other young people who share their challenges. We are thrilled to have Sobi’s support with our 2018/19 project.” Rebecca Stewart CEO NRG Collective Ltd.
The United Kingdom and Republic of Ireland team is based in Cambridge and have been rated as the best company in Haemophilia in the UK through an annual independent survey in 2016 and 2017 and one of the UK’s great places to work in 2017.
Rare Revolution Editor