Rare Disease Day: Hear our voice to help meet our needs

Monday 29th February 2016 is quite aptly named Rare Disease Day  - as a leap year it's the rarest day of the year. Around the world, people will be coming together to raise awareness for everyone affected by a rare condition.

This year the day’s central theme is about recognising the crucial role that patient voice plays in creating change and improving the lives of patients, their families and carers. This includes thousands of children in the UK - quite possibly your child, or the child of someone you know.

The slogan ‘Join us in making the voice of rare diseases heard’ is an appeal to everyone, including those who are not living with or directly affected by a rare disease at this time, to join in making the impact of rare diseases known.

At Genetic Alliance UK, we represent many patient groups, both large and small - SNJ is a member too and Tania is a Trustee. As part of this are two fantastic initiatives that families can get involved with: Rare Disease UK and SWAN UK (Syndromes Without a Name). SWAN UK is for people with conditions so rare they have not yet been identified. Many are children who face tough times finding treatments that work, possibly long spells in hospital and often difficulties accessing educational support.

We passionately believe that our work should be led by patients' voices. Patients’ opinions and experiences are central to every aspect of our work right from deciding the focus of the work we do, to the development of Patient Charters.

Listening to patients is finally being seen as crucial to providing the right care. We asked: “If you could change one thing about being ‘rare’ what would it be and why?” Below are just some of the insightful responses we received: Click to move through the quotes.

Unsurprisingly, the most common answer we heard was that increased awareness would hold no end of benefits for patients - both children and adults - with rare diseases.

Many of the patients and families we spoke to while drafting this blog, and during research for our ‘Rare Reality’ report, recognised that raising awareness isn’t just about more people knowing that there are rare conditions out there (and that they are more common than you think). Awareness pushes an issue up the agenda for clinicians, researchers and policy makers, helping to improve many aspects of patients’ lives. We hope that with better awareness of rare diseases, patients and their carers will see improvements in areas such as initial diagnosis, research, treatment and the everyday interactions that they have with friends and family. People who are living with a rare disease, and the families that support them, often feel isolated. Bringing the wider community together can help to bring them out of this isolation.

rare disease infographic
Click to enlarge - please share!

While it is true that rare diseases are higher up the healthcare agenda today than they have ever been before, more attention must be paid to developing processes that will ensure awareness of rare diseases permeates every corner of the health service – like letters running through a stick of rock.

Awareness will help us ensure that the UK Strategy for Rare Diseases is successfully implemented. When the strategy was published in 2013, it was the first time since the establishment of the NHS that patients and families affected by rare conditions had a clear, strong commitment from Government that their healthcare needs will be met. Now, the strategy must be successfully implemented so that people living with a rare disease have access to the best evidence-based care and treatment that health and social care services can provide.

If you have a moment, do think about what it might be like to have a rare condition, join us during our twitter takeovers, share our awareness poster on Facebook or attend one of the many Rare Disease Day events that are happening around the UK.

twitter takeover details
Click to enlarge - please share!

Pledge for Patients

We will also be launching our Pledge for Patients campaign in Scotland and Wales on the 29th February – so candidates for the Welsh Assembly and Scottish Parliament can show their support for patients with rare, genetic and undiagnosed conditions. If you live in Scotland or Wales please take a moment to send a letter to your prospective parliamentarians asking them to sign the Pledge for Patients.

pledge for patients
Please share!

This is the 9th annual Rare Disease Day, run by EUORODIS; hopefully it will be the biggest yet! After all, 3.5 million people in the UK will be affected by a rare condition at some point in their life – in reality, the experience of being ‘rare’ isn’t actually all that rare.

Editor's Note: Tania, Debs and Angela are all affected by different rare conditions, either themselves or their children. There are a lot of us about - if you are too, please name your/your child's condition in the comments as a sign of support for Rare Disease Day or add a photo of you or your rare kids raising your hands in their air in support to our Facebook page!

rare disease hands
Tania, small person, centre,  among delegates "raising their hands" at a rare disease workshop by the Findacure Foundation
Emily Muir, Genetic Alliance UK
Follow

Emily Muir, Genetic Alliance UK

Policy & Public Affairs Officer at Genetic Alliance UK
I studied Biomedical Sciences at the University of Warwick and previously worked in the field of Learning Disability - interning for the Challenging Behaviour Foundation. I firmly believe that the patient experience should inform all aspects of policy and public affairs.
Emily Muir, Genetic Alliance UK
Follow
  • Well done for a great overview of some of the issues – I’d like to add another huge issue for many for parents of undiagnosed children and those with rare conditions. When clinicians cannot find a reason for your child’s symptoms, increasingly these days rather than assuming a rare disease, the assumption is that there is a safeguarding concern. This prevents the child receiving the treatment they need and stops all parental involvement in the child’s care. When the child does not follow the rule book parental knowledge is often the difference between the treatment working or not. Ironically ignorance and the anti-parent safeguarding training is harming more children than it helps. This sort of child abuse is so rare that when a clinician raises concerns it is far more likely that they have missed a rare disease than they have intervened in an abuse case.