18 Things People Need to Learn on World Rare Disease Day
just because a disease is rare, doesn’t mean the issues facing
it should be ignored — a lesson that is exemplified each year on World
Rare Disease Day. This February 28, the people affected by more than
7,000 rare diseases will come together
for a day of advocacy and education. Patients and their loved ones are
invited to raise awareness of the 350 million people living with rare
diseases and how politicians, researchers, communities and society at
large can make a difference in their lives.
We partnered with
Global Genes to
find out what the rare disease
community wants
others to learn on World Rare Disease Day. These are the lessons that
can help people understand why awareness of rare diseases is so crucial.
And if you’re interested in getting involved in Rare Disease Day in
your city, check out
these ideas.
Here’s what the community told us:
1.
“Genetic testing needs to be more accessible and less expensive.
Sometimes it is the only way to get a diagnosis. Even if the diagnosis
is difficult, it’s better than not knowing.”
2.
“Research is crucial. Not only can it lead to treatments but it also
helps raise awareness about each individual rare condition. This, in
turn, can reduce the wait for a diagnosis and reduce the number of
misdiagnoses people receive on their diagnostic odyssey. To me this
looks like a win/win/win/win scenario.”
3. “The
disease is rare but the human needs and dreams are common. Every patient
has the right to live no matter how small the number is. The support
for rare disease in many countries are little because the number is small, but when each disease comes together, it is not so rare.”
4. “Early diagnosis and early intervention are
essential. There have been such incredible advances in genome
sequencing, doctors need to think zebras when they are not sure what’s
going on with a patient. My daughter was diagnosed and started treatment
at 14 months, the average child waits years for diagnosis.”
5.
“Invisible does not mean nonexistent, a good day does not mean cured
and a long-term fight for a family requires reserves that can sometimes
be misunderstood. We do the best we can and at the end of the day, we
are are loving our children and trying to live our best lives possible,
too.”
6. “I know it’s natural to be curious, to
stare, but please smile, say hello. They are people, too. They may not
see, hear or know how to respond, but their caregiver, loved one or
friend will help spread awareness, knowledge and kindness in return.”
7.
“You may not fit the criteria of a rare disease but you can still have
it. I had a disease when I was 2 that is rare but is more common in boys
and Asian ethnicities. I don’t have any Asian background and I’m female
but still had it. Don’t let misdiagnosis settle with you.”
8.
“Even if we have a diagnosis, it doesn’t mean we have all the answers.
Rare can mean there aren’t many (or there isn’t any) studies,
information or treatments.”
9. “The act of listening seems simple enough, but
many are never heard when sharing or explaining important information
regarding their rare disease. It is a daily struggle to have someone
partially understand or relate to how and why a rare disease can be
difficult to live with. Especially when on the outward appearances you
look normal, or people perceive you to being healthy.”
10. “We need more specialists and doctors to take interest in rare disorders.”
11.
“You don’t have to completely understand in order to be supportive.
People with rare diseases (like mine, Cushing’s) can often feel alone,
isolated, afraid. The tests, procedures and treatment are so hard to go
through. I want people to learn to do something. Show up for your
friends and family. Seek to understand what they are going through.
Offer to do things like drive to doctor appointments, make a meal, clean
the kitchen. Isolation is so common with people with rare disease —
when you find out someone is going through any part of the process know
that they are fighting so hard — harder than you could probably ever
imagine.”
12. “Doctors — don’t blow us off or
tell us it’s ‘all in your head.’ I have a rare disease and probably know
more about it than you learnt in medical school. Listen to us. We can
teach you a thing or two.”
13. “If you’re
interested in learning about the disease, please ask. Googling only
scratches the surface and what you will find is so very pale in
comparison to the reality.”
14. “I’m really not
that different. I want many of the same things you do. I want to be
included in group projects and discussions. I really am more like you
than not.”
15. “Some people never get a diagnosis. That doesn’t mean we’re making up our illness;
it just means we don’t know what is causing it.”
16.
“Not every rare disease presents in textbook fashion. My rare disease
looks nothing like what even generalized medical practitioners are
familiar with seeing or hearing of from textbooks. That doesn’t mean I
don’t have it or I’m doing really well with it and those statements
completely invalidate the pain my disorder causes.”
17. “We were all — at one point —
undiagnosed.
Rare conditions are often harder to find and don’t necessarily show up
in standard medical tests. Please don’t be so quick to suggest that our
symptoms are somatic.”
18. “Being unique
medically is hard. Every day there are a thousand adjustments to operate
and achieve at the same level as everyone else.”
