If you’re a regular reader of my blog, you’ll probably know that one of the conditions I live with is trigeminal neuralgia. As well as being an extremely painful condition, it’s also rare. When you live with a condition which is classed as a rare disease, life can become even more difficult because rareness brings its own problems and challenges to the party.
Over 300 Million People Live With a Rare Disease
300 million. That number is quite difficult to take on board. That’s a lot of people across the world who live with a rare disease and many of them will be children.
Here are a few facts about rare diseases:
- In Europe, a condition is classed as rare when it affects fewer than 1 in 2,000 people.
- Rare diseases currently affect 3.5% – 5.9% of the worldwide population.
- 72% of rare diseases are genetic.
- 70% of those rare diseases start in childhood.
- 28% are the result of infections (bacterial or viral), allergies and environmental causes or are degenerative and proliferative.
Facts and information courtesy of the Rare Disease Day website.
Previous Posts About Rare Diseases on My Blog
Why We Need to Support Rare Disease Day
Supporting People With a Rare Disease
What is it Like to Live With a Rare Disease?
Imagine rummaging through the attic and finding an antique.
You’d probably handle it with kid gloves and cover it in bubble wrap to protect it. You’d do some research then you’d take it to an expert to have it assessed and valued.
Then imagine being told that the antique in your possession is extremely rare. You’d insure it then decide whether to sell it or keep it. Since it’s rare, it will be sought after. Everyone around you will be interested to hear about your rare discovery. Your life could change dramatically.
It would be a nice discovery, wouldn’t it? Just imagine the joy.
The Similarities Between a Rare Antique and a Rare Disease
There are four similarities between finding a rare antique and being diagnosed with a rare disease
Firstly, and most obviously, they’re both rare and hard to find.
Secondly, you need to do research.
Thirdly, you’d need to find an expert
And finally, your life could change dramatically.
That’s where the similarities end.
There is No Joy in Discovering That You Have a Rare Disease
There is no joy in discovering that you or a loved one has a rare disease. None. None at all. In fact, it’s the opposite. There’s panic, worry, stress, anger and fear.
People who are diagnosed with a rare disease are often afraid of the future because they don’t know what lies ahead. The truth is that in many cases, nobody knows. The knowledge simply doesn’t exist.
They believe that no one can understand what they’re dealing with because nobody has even heard of their condition.
With a lack of knowledge and support, they often feel alone. Very alone.
The Problems With Researching and Diagnosing a Rare Disease
Researching symptoms before a diagnosis is difficult. If you google symptoms, you could find a lot of wrong results which could lead you up a garden path. But often, doctors struggle to recognise symptoms too. They look at more obvious conditions rather than thinking their patient has a rare disease.
Diagnosing a rare disease can take years and misdiagnosis is common in the initial stages.
When diagnosed with a rare condition, people want information but there is often very little knowledge. There are so many unknowns, even to doctors.
When you live with a rare disease, finding an expert is also difficult because the expert in your particular condition is often even rarer than the condition itself.
Living With a Rare Disease Can Be Expensive
That rare antique might make you a lot of money whereas living with a rare disease could drain your finances. You might have to travel to the other side of the country or even the world in order to find an expert or receive specialist treatment. New treatments are often experimental and unapproved by the NHS, therefore if you want to try them, you might need to pay for them privately.
Insurance Cover is Often Non-Existent or Very Costly
Whether you want life, medical or travel insurance, you might come up against problems. Insurance companies aren’t always too keen on insuring someone with health problems. When your health problem is a rare disease that they know nothing about, they probably don’t want to insure you.
There is Little Funding, Research or Awareness
It’s understandable really. If a condition affects a lot of people, there will always be more funding, much more research and much more awareness. But if your condition is rare, there’s less of that going around. If your condition is extremely rare, there is virtually none.
It is often up to patients and their families to fundraise and create awareness themselves.
If Patients Don’t Raise Awareness, Who Will?
If patients don’t raise awareness, nobody else will. Awareness groups and organisations are normally set up and run by sufferers or their families. They may receive a small amount of funding from governments, donations and membership fees. However, most of the work is done by unpaid volunteers who are normally sufferers themselves.
There is Often No Cure
Following on from the last point, if there’s very little money for research, there is rarely a chance of a cure.
Please Support Rare Disease Day
Every year on the last day of February, people try to promote awareness about rare diseases. More information can be found on the Rare Disease Awareness Day website.
Remember that when we stand alone, our voices are quiet. Together we can be heard. Please share this post to make our voices a little bit louder.
Do you live with a condition that is classed as a rare disease? Have you come up against problems due to its rareness?
Those stats are quite eye-opening, especially with how 70% of rare diseases start in childhood. Wow. There’s something incredibly sad about that, isn’t there?
I love your antique analogy (is that the right word?) It’s a shame there’s no receipt when you get the Rare Disease Antique. It’s like buying from one of those pop-up shops that don’t offer refunds because they know the products are crap and they’ll disappear next week so nobody can return the stuff!
The loneliness aspect is, I imagine, quite a big one for so many with a rare condition. I personally find it’s a big issue for me with non-rare issues, so I can just imagine the challenge of feeling nobody understands or comprehends when living with something so rare. And diagnosis, that’s a kicker. I’ve struggled with diagnosis of different things for years and with being fobbed off. So many conditions don’t have black and white criteria for diagnosis, no simple blood test that will flag up a specific name for a disease. Even if you have suspicions of what it could be, as you say it’s not easy finding someone sympathetic or specialist in that condition.
“Together we can be heard.” Amen to that. You do a fantastic job of raising awareness & supporting others in their journeys, Liz. 🙏
Caz xx
Thanks Caz. Yes, the statistics are eye-watering, aren’t they. I wrote posts about Rare Disease Day a couple of years ago and was shocked. Some are so rare that there are maybe just a couple of people in the world. Some don’t even have proper names, just a bunch of letters and numbers. It’s pretty sad.
I’m glad you liked the antique analogy. It’s just a pity we can’t sell our rare diseases to the highest bidder. The auction halls would be empty. Who’d want to buy one?
Even when you , we have a common condition it is no guarantee that there are answers or suitable treatment, let alone understanding or empathy. I have debilitating tinnitus which has really impacted all aspects of my life. I am told to relax!
Yes, you’re right, many common conditions still don’t have suitable cures or treatments either.
I loved the comparison with the antiques! Great blog! Thank you!
Thank you, Mary.