Since Rare Disease Day falls on the 28th of February, I thought I’d share some facts about rare diseases.
My Own Rare Disease Story
After living with facial pain for many years, a doctor finally gave me a diagnosis of trigeminal neuralgia in 2009. I was unfamiliar with the name so when I returned home, I Googled it and discovered that trigeminal neuralgia was a rare disease. No wonder I’d never heard of it before.
For me, getting a diagnosis was almost a relief. I had spent so many years telling doctors and dentists about my pain but had received very little help. I felt as though some doctors didn’t believe me and thought I was a nuisance patient. But when I had a diagnosis of trigeminal neuralgia, things changed. They took me seriously and recognised how much pain I had in my face and head. And, most importantly, they tried to treat it with the correct medication.
Rare Disease Facts
When Is a Health Condition Classed as Being Rare?
If a health condition affects less than one in 2000 people, it is a rare disease.
How Many People Have a Rare Disease?
According to Global Genes, 400 million people in the world are affected by a rare disease.
That is just short of 5% of the world’s population.
Rare diseases impact more people than cancer and AIDS combined.
Number of Rare Diseases
7000 rare diseases have been identified.
Some of those rare health conditions have names that people might recognise thanks to awareness efforts. But the majority of people have never heard of most rare diseases.
There are also some rare diseases that have been identified but don’t have a proper name as yet. Their names often consist of letters and numbers.
Lifespan
65% of rare diseases are associated with a reduced lifespan.
Genetics
80% of rare diseases are genetic.
Hospitalization
3 – 10% of all hospitalizations are related to a rare disease.
Rare Diseases and Children
It’s awful to know that someone is suffering from a rare disease but when children have a rare disease, it is extra heartbreaking.
50% of people with a rare disease are children.
3 out of 10 children who have a rare disease are unlikely to see their fifth birthday.
28% of neonatal intensive care deaths are caused by a rare disease.
Diagnosing a Rare Disease
It can take an average of between 6 and 8 years to get an accurate diagnosis.
People with a rare disease often receive a wrong diagnosis initially. Symptoms can overlap with other more common conditions, making it difficult for doctors to diagnose a rare disease. The same rare disease might affect people differently which also makes it difficult for doctors trying to diagnose patients.
A delay in receiving the correct diagnosis also means a delay in receiving the correct treatment (if there is one available).
Treatments For a Rare Disease
Over 95% of rare diseases have no FDA approved treatment.
Facts from Global Genes
Other Facts About Living With a Rare Disease
From those facts above, you can see that the road to getting a correct diagnosis and treatment of a rare disease can be a long process. But it can also be costly. Patients often travel around the world to see multiple doctors in the hope of getting help. If the illness is extremely rare, there will also be fewer doctors who specialise in it. There may be none at all.
The Benefit of Support Groups
Living with any health condition is difficult but when the health condition is classed as being rare, life can be even more difficult. There’s less information readily available and very little support.
Having a support network is vital.
It’s often easy to forget that trigeminal neuralgia is a rare condition because there are so many people in support groups on Facebook. There is a sense of unity in support groups. A sense of strength in numbers. It helps people. It is easier to cope knowing there are others who understand.
If you have a rare health condition, I hope you can find support and help.
Please click here for more information about Rare Disease Day
400 million people affected by rare diseases (at an estimate, which I imagine could be far higher, especially given rates of misdiagnoses and those undiagnosed). To think rare diseases affect more people than do cancer and AIDS combined is very eye-opening. What I hadn’t realised was the age issue, in that 50% of those with rare disease are children. My gosh, that is heartbreaking. It makes sense in the way that some conditions will have an hereditary/genetic basis, but it’s heartbreaking to think children have to suffer with such conditions, on top of the problems that come with them like stigma, feeling alone, struggling to get the healthcare you need and so on.
A very poignant post, Liz. We can feel very alone in our experiences with a rare condition(s) but knowing so many are on a similar journey make us realise we’re not as alone as we may often feel. More awareness is definitely needed in so many ways. xx
Great post! It’s hard enough getting diagnosed with even a common disease if you are a woman—half the time the doctors say “stress.” It must be so much worse if you have something rare and the average GP is not experienced enough to recognize it. I’m glad you finally got a diagnosis though!
This is such a great post, raising awareness and sharing such important facts about rare diseases. I’m so sorry to hear about your trigeminal neuralgia diagnosis. My friend also suffers from it so I know a bit from her how debilitating it can be. It’s so sad that there are 400 million people suffering from a rare disease, and it does seem as time goes on that more and more younger people are struggling with their health. The fact it takes 6-8 years to receive a diagnosis is awful. Like you said, even with as diagnosis there isn’t approved treatment for many of the diseases as there isn’t any or much research being undertaken. I really hope and pray that in time things improve and people receive quicker and better care and treatment.