1 in 17 people will be affected by a rare disease at some point in their life. (European Council)
This amounts to approximately 3.5 million people in the UK.
75% of rare diseases affect children and 30% of rare disease patients will die before their 5th birthday. (EURORDIS)
There are over 6,000 recognised rare diseases.
Collectively rare diseases are not rare.
Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. We believe that everyone living with a rare disease should be able to receive high quality services, treatment and support.
RDUK is campaigning health departments across the UK to implement the UK Strategy for Rare Diseases to ensure that patients and families living with these conditions have equitable access to effective services.
Key features of the UK Strategy for Rare Diseases, which was published in November 2013, include:
- making sure patients and their families and carers have the information they need, are listened to and consulted
- developing better methods of identifying and preventing rare diseases
- improving diagnosis and earlier intervention for those with a rare disease
- developing better coordination of care for those with a rare disease, including joined up consultation and treatment schedules
- building on research to improve personalised approaches to healthcare for those with a rare disease
To achieve the UK-wide vision for rare diseases, there are 51 recommendations which all four countries of the UK have committed themselves to.
There are over 6,000 recognised rare diseases each with different symptoms and prognoses, yet our research highlights that patients and families frequently face common problems regardless of which rare condition they are living with.
Some of the common problems experienced included:
- Difficulties in securing a correct diagnosis, with patients often reporting severe delays in diagnosis and multiple misdiagnoses.
- Patients and families struggling to access information on their condition and experiencing a lack of support with both their medical and non-medical needs.
- Patients reporting that their care is badly coordinated, particularly around the time of transition from paediatric to adult services.
- Patients having difficulties in accessing all the services they require for their condition.
Alastair Kent, Chair of Rare Disease UK, summarises our findings: “Many people living with rare diseases and their families have to go through years of medical tests and procedures before an accurate diagnosis can be made. Not only is it often a battle to get an accurate diagnosis, patients and families then struggle to find out the medical impact of a condition and how to manage it, on top of having to cope with day-to-day life without adequate support.”
While most patients face major difficulties, positive instances of timely diagnosis and good quality care and support were indicated by some. This highlights the inequalities that exist in services received by patients with different rare diseases, and even between those affected by the same rare disease in different parts of the country. This raises serious concerns about equality of access and fair treatment. Good practice should be the norm rather than the exception.
Alastair explains that the results hammer home the need for a coordinated UK-wide strategy “for the diagnosis, treatment and research of rare diseases. This is a hugely important issue that needs to be tackled; patients and families should not have to face an inequitable level of care from the NHS because they have the misfortune of their condition being rare.”
Patients and families often reported that patient organisations play an essential role in providing them with information and support. They provide help and assistance to patients with getting a diagnosis, and accessing appropriate services, information and support throughout the progression of their condition. They are also important sources of guidance for patients considering participating in groundbreaking research, vital to enable the development of new therapies, diagnostic tests and preventative measures.
Mesothelioma is counted as a Rare Disease and as such I was asked to tell my story to raise awareness tomorrow
Published: 03 Feb 2015
I’m just an ordinary woman who married at 18 and washed my husband’s clothes as he came home from work at the Chatham Dockyard as a Shipwright. I didn’t know the powder on Ray’s clothes was anything other than dust bought home from work. I shook his clothes and then put them in the washing machine. Forty-eight years later I find I have mesothelioma and a death sentence of 3 months.
After my husband’s apprenticeship and national service he returned to the dockyard. This is when he worked with asbestos all around as the laggers lagged everywhere in the ships when they were being refitted. My father also worked on the submarines as an electrician.
We lived a wonderful healthy life and bought up a family. I went to keep fit classes and walked miles with the dogs in our lovely countryside. Then we retired in 2000, sold our house, moved to the coast, bought a motor-home and settled into retirement.
Losing My Breath
Forty-eight years later and after a two month stay in Spain I couldn’t breathe and the story of mesothelioma began.
I had been to the GP as my arm had gone numb and I burnt myself on an iron but didn’t feel it. He thought I had a trapped ulnar nerve and made an appointment for me to have an X-ray and see a specialist.
In May I went to vote and I just couldn’t breathe. When I got home, to my amazement the GP phoned and told me the results of the X-ray were showing a mass and they had arranged a bed at the hospital for me to have my lung drained.
This was carried out and from the fluid they found cancer cells and believed I had mesothelioma.
Prognosis and Chemotherapy
That led to me being given 3 months to live. I didn’t accept that and after my pleurodesis at the Guy’s Hospital in London, I started chemo.
Cisplatin and Alimta which is the standard treatment in the UK. This worked for fifteen months then started growing again.
I was offered the NGR-hTNF trial at Maidstone, this clinical trial acts on the tumours blood vessels which I’m afraid didn’t work for me or I had a placebo. So two sessions of Cisplatin and Alimta, I became allergic but it did work and we had stability again for a while…then growth was found in my next scan.
The Life Line
What would I like next as there are no new trials or Chemo? I’m not used to a doctor having no answers.
I emailed Saint Bartholomews Hospital and that Friday I was in an appointment where Peter offered me the last place on the ADAM Trial, but it would mean another Bi-op and then I might not even be suitable.
He threw me a life line of GemCarbo chemotherapy and I could have that locally. Back to Canterbury and I was on chemo again until September.
The October scan was bad news…the chemo hadn’t worked. A scan every three months was showing the growth of three millimetres every three months.
I wasn’t happy.
So I got right behind the Saatchi Bill (The Medical Innovations Bill) and worked with Lord Saatchi and the doctors. I was also on the committee when it was launched at the House of Commons.
Then a Doctor gave me the advice to go to the Royal Marsden where they were starting a trial that might suit me, so I asked my Oncologist and she referred me.
Joining the Meso Warriors Community
I’m now on a Phase 1 trial of Immunotherepy.
It isn’t just for mesothelioma but the trial,, MK-3475, is a drug being tested as it blocks the interaction of a substance called PDL-1 with PD Inhibitor.
When I was first diagnosed with mesothelioma in 2009, I Googled the word as I’d never heard of the disease, only asbestosis. All the depressing reports and write-ups gave me a shock of as there seemed no hope.
I turned to Facebook and completed a search which gave me so many Lawyer sites; however I did come across Debbie Brewer’s Facebook which led me to a wonderful community of patients around the world called The Meso Warriors.
Debbie and I became friends and together we created more groups. I started the Q&A page so I could ask all the questions I needed and there are groups for other needs such as:
Mesothelioma Articles Groups with new trials and news so we can always be ahead and up to-date and also blogs where warriors can tell their day-to-day stories of their fight.
Meso Warriors and Carers groups to help carers understand the diseases as well as get help when needing to cope.
Individual Groups that are secret where each member can put their personal thoughts and stories and share with their own friends and family.
We even have a Tears Page for the partners that have lost a loved one so they share their lives afterwards. It’s amazing how that helps in so many ways. Post-mortems and wills and the day to day help to live again.
This has all become so successful that the world has joined in and we have members from America, Australia, and many other countries, we learn from each other, how the world copes with the disease. Also we fight for the ban of asbestos and how to manage it in the buildings.
Take Five Stay Alive Campaign is run by British Lung Foundation which I made a video for and became the centrefold in their annual report.
Suffering from mesothelioma, I wish we could take asbestos out of our lives or the closest to zero that could be humanly achieved. There is no statistical data as to the amount of fibres breathed in over time that can be medically proven to have caused mesothelioma.
I had my exposure from washing my husband’s work clothing, and many people have suffered and are going to suffer from asbestos as a result of unintended exposure. Since the use and importation has been prohibited in Europe, the exposure people are now suffering and still continue to be exposed to asbestos in our built environment.
For the sake of our future generations, asbestos must be removed from the world we live and work in. To do that, I believe it requires professional companies operating at the highest standards to continue to remove this category 1 carcinogen safely and make our world a safer place.
I fought against it by having chemo and now my last chance is MK3475, an immunotherapy treatment which is shrinking my disease very fast. For how long no-one knows at this point.
I fight on for the future and all our Meso Warriors past, present and future.
Very proud to be included in the day
Alongside ADAO http://www.asbestosdiseaseawareness.org/archives/31160
The Asbestos Disease Awareness Organization (ADAO), which combines education, advocacy, and community to provide a unified voice for asbestos victims, will be joining the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 28, 2015. On this day, thousands of patients and their families will share their stories and focus a spotlight on rare diseases as an important global public health concern. As the NORD supporters say, “no more Band Aids-just a cure!” Since 2005, ADAO has been listed as a mesothelioma resource on the NORD website.
A ‘rare disease’ is one that affects fewer than 200,000 Americans. Tragically, mesothelioma, a cancer caused from asbestos, claims the lives of more than 3,000 Americans every year, symptoms of mesothelioma may not appear until up to 50 years after initial exposure to asbestos. According to government statistics, between 85 and 90 percent of orphan diseases are serious or life-threatening, yet only about 200 of them currently have any effective treatments. Presently, prevention is the only cure.
Dr. Domenica Taruscio, Director, National Center for Rare Diseases, explains the importance of rare disease day and how it affects mesothelioma: “Mesothelioma has a well-identified environmental cause – asbestos. Yet, much research is still needed, in particular concerning early diagnosis and treatment. There is so much that can be done in order to prevent mesothelioma simply applying the current knowledge, deleting asbestos exposure from our everyday lives by appropriate regulations.However, to achieve these aims, a widespread awareness is needed. Thus, the mesothelioma issue is expected to benefit from the awareness raising stirred up by the Rare Disease Day.”
Every year Rare Disease Day has a specific theme worldwide. This year, the theme is “Living with a Rare Disease.” World Rare Disease Day was launched in Europe seven years ago and last year was observed in 60 nations. It is always observed on the last day of February. On that day, patients and patient organizations will post stories, videos, and blogs online and host events to raise awareness of these diseases, which are often called “orphans.”
ADAO represents patients and families affected by mesothelioma and other asbestos-related diseases throughout the United States and abroad. On April 17- 19, 2015, in Washington, D.C. ADAO will host the 11th Annual International Asbestos Awareness Conference, where more than 30 renowned experts and asbestos victims from ten countries will present the latest advancements in disease prevention, global advocacy, and treatment for mesothelioma and other asbestos-caused diseases.
For more information about Rare Disease Day activities in the U.S., go to www.rarediseaseday.us.
Together, change is possible.