There are nearly 7,000 rare diseases, and it can take over 7 years on average for a person to receive a proper diagnosis for a rare disease. Many rare disease patients see multiple physicians and receive several misdiagnoses before getting an accurate diagnosis. This is due to limitations in physician knowledge about rare diseases and limitations in available information. Efforts to increase awareness and improve diagnosis of rare diseases are important for helping patients receive timely and accurate diagnoses.

1. Journey into the Unknown:
The Search for Rare Diagnosis
There are nearly 7,000 rare diseases
Can you imagine knowing
something was terribly
wrong but not knowing
why? For over 7 years?
world.1
most affect children.1
In the US, it can take over 7 years for a rare
receive a proper diagnosis.2
Or worse, a diagnosis may never happen.
In 1 year, about 27,000
clinical trials and 150,000
case reports are published.3
“If I read and memorized 2 medical
of a year I’d be 400 years behind.”
-Dr. Donald Lindberg, Director of the
3
inaccurate diagnoses and hinder the uncovering of new disorders.4
By the age of 2, we have
achieved about half of
our adult height.5
From infancy to age 2, about
14 inches in height are added.5
receives 2-3 misdiagnoses.2
At 3 years old, a child’s
brain reaches 80% of its
adult size.6
In those first 3 years of life, the
brain has twice as many synapses
as it will in adulthood.6
8 physicians before receiving a proper diagnosis.2
By the age of 4, a child’s
vocabulary will have reached
over 1,000 words.7
Curiosity peaks at 4 years old—the age
when a child typically asks the most
7
In a survey, 42% of primary care physicians agreed or were neutral
about the statement, “I can’t get involved with the diagnosis of a rare
disease, there are just too many of them for me to be aware of.” 8
In 5 years, you can watch
all 8 seasons of the TV show
.9
House M.D. about
Recalling an episode of House, a 19-year-old
woman once diagnosed herself with
Guillain-Barré syndrome—and was correct.10
physicians about their child’s rare disease.8
In 6 years, you can receive a Master
of Science degree
from Stanford
University.11
12
Over half of primary care physicians rate their rare
”8
In 7 years, every single
cell in your skeleton will be
replaced with a new cell.13
As research efforts toward finding new
Rare Disease Day, help us also raise
awareness for the need for physician
On average, the clinical trial
process takes 6-7 years.14
diagnoses of rare diseases.
Resources for Rare Disease Diagnosis:
NIH Undiagnosed Diseases Program (UDP)
In Need Of Diagnosis, Inc. (INOD)
Syndromes Without A Name USA (SWAN USA)
U.R. Our Hope
SirenSong Blog
pinterest.com/sireninteract
Sources:
8.
1.
2.
2013;1(2):1-15.
community. Rare Disease Impact Report. 2013.
9. House M.D. IMDb website.
3.
Resources
10. Persch JA. House effect: TV doc has real impact on care. NBC
News website. Updated September 9, 2009.
health_care/#.UvFpU7S3hxV. Accessed February 4, 2014.
February 4, 2014.
4.
11.
Stanford School of Medicine website.
February 4, 2014.
5. Children’s Health: Can We Predict Height. Harvard Health
February 4, 2014.
12.
003. Accessed February 6, 2014.
6.
3/baby-and-brain. Accessed February 4, 2014.
November 5, 2013. Accessed February 4, 2014.
-
7. Development milestones record – 4 years. MedlinePlus website.
Accessed February 7, 2014.
J Rare Disord.
13.
research. Stanford School of Medicine website.
14.
February 4, 2014.