Today is Rare Disease Day and during the past week we have been featuring a number of families who have been affected by rare conditions. Even if you're not especially interested in the field as a whole, you cannot fail to be moved by the courage of those who face sometimes impossible odds for the survival of their child and yet still manage to help others with similar illnesses.
This isn't confined to people with rare diseases; I am amazed by the refusal of many people burdened with so much difficulty and daily trauma to just turn inwards and grieve for their own difficult circumstances and disrupted lives.
I understand it, this need to help others. Although my own children do not, thankfully, live with terminal conditions or need 24/7 nursing care, helping others can be life-affirming, knowing that whether or not your actions will help your own child, you may alleviate the suffering of someone else's. It can also give you back an element of feeling in control of your destiny, when you act to change your impossible situation and help others at the same time.
There is also the sense of obligation to help those charities who have helped support us or, as many do, set up support organisations for similar families where none previously existed. Increasingly, in these emerging times of crowdfunding and the patient advocacy, families are even setting up research and development non-profits to push forward progress into curing the conditions that afflict their loved ones.
In the past few years the voice of the expert patient and parent carer has become stronger than ever. The internet brings us knowledge, open access research and the ability to connect with clinicians and researchers who can help take up the challenges of finding answers.
Marry this with emerging technologies, genomics, stem cell medicine and precision medicine and it's possible to imagine that cures for those 6000+ rare diseases, the deadly cancers and other medical mysteries (not to mention the common cold!) will be possible.
But the challenge in both human and financial terms, is simply huge.
At a basic level, there is a still a long way to go in many areas for medical professionals to value the input that those using health services have to offer. Many may feel that they have enough to do coping with ever-changing government health policies without listening to patients' opinions too.
This is against a backdrop of scandals in the care of people with learning disabilities, overflowing A&E departments, rising numbers of people with dementia and other age-related conditions, not to mention caring for those who are living longer but in poor health.
The calls on public health funds are already so immense, that those families searching for answers to rare conditions have no option but to spend huge amounts of time on fundraising activities, push legacy giving or dip into crowdfunding. Only if a condition has a potential medicinal solution can they hope that super-rich drug companies will continue to invest more in orphan drug research. This has historically been neglected because of its limited returns due to the smaller number of patients with rare diseases set against the vast costs of research and development.
A strategy for rare diseases
The theme this Rare Disease Day is "Day by Day, Hand in Hand" and there was certainly much enthusiasm at the Rare Disease UK reception I attended on Wednesday at the House of Commons. Patient group members mingled with Pharma company staff and a few politicians popped in including Earl Howe, the Health minister.
The UK Strategy aims to ensure no one gets left behind just because they have a rare disease. We want to put the patients’ needs first. To do this, we will bring together the talent, skills and professionalism of all relevant sectors. This will bring real, positive change in how we deal with rare diseases and how we help people with complex conditions. UK Rare Disease Strategy 2013
The UK has a Rare Disease Strategy, published in 2013, and running to 40 pages, a recognition that collectively, rare diseases are a common occurrence and more attention needs to be focused on the area as a whole. The strategy contains 51 recommendations which all four countries of the UK have committed themselves to. The first one is:
Strengthen the mechanisms and opportunities for meaningful and sustained patient involvement in rare disease service provision and research, recognising patient groups as key partners...
We are concerned with rare conditions here at SNJ not because myself, Angela and Debs are all personally affected, but because so many of our readers are. In the UK alone, 3 million people have a rare disease. It might not be you now, but it may be one day because many conditions do not show themselves, or are not apparent to their full extent, until later in life. Trust me on this one.
I hope you've managed to read at least some of this week's posts about Rare Diseases. If you want to see all of our posts on the subject, you can find them here and to check out and share our Rare Disease Infographic (free to reuse) see here
- Our previous posts about rare disease
- Rare Disease Day official website
- Information about the UK Strategy for Rare Diseases and how it will be implemented.
- Rare Disease UK
- Support the Rare Disease UK open letter to the leaders of the UK's main political parties
Tania is an experienced broadcast and print journalist & author. She also runs a PR, web & social media consultancy, SocialOro Media.
Tania is a rare disease & chronic pain patient advocate with Ehlers Danlos syndrome.
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