Below is an excerpt from the official rare disease day. Kenya marked it's first rare disease day last year with awareness creation in the media and on social media. I have highlighted parts that show you why as persons living with muscular dystrophy, this day is important to us, our families and the society as a whole.
What is a Rare Disease?
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. ( There is no data available on rare diseases in Kenya).
One rare disease may affect only a
handful of patients in the EU (European Union), and another touch as
many as 245,000. In the EU, as many as 30 million people alone may be
affected by one of over 6000 rare diseases existing.
- 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
- 50% of rare diseases touch children.
Characteristics of rare diseases
Over 6000 rare diseases are
characterised by a broad diversity of disorders and symptoms that vary
not only from disease to disease but also from patient to patient
suffering from the same disease.
Relatively common symptoms can hide
underlying rare diseases leading to misdiagnosis and delaying treatment.
Quintessentially disabling, the patients quality of life is affected by
the lack or loss of autonomy due to the chronic, progressive,
degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no
existing effective cures adds to the high level of pain and suffering
endured by patients and their families.
Common problems faced
The lack of scientific knowledge and
quality information on the disease often results in a delay in
diagnosis. Also the need for appropriate quality health care engenders
inequlities and difficulties in access to treatment and care. This often
results in heavy social and financial burdens on patients.
As mentioned, due to the broad
diversity of disorders and relatively common symptoms which can hide
underlying rare diseases, initial misdiagnosis is common. In addition
symptoms differ not only from disease to disease, but also from patient
to patient suffering from the same disease.
How can things change?
Although rare disease patients and their families face many challenges, enormous progress is being made every day.
The ongoing implementation of a better
comprehensive approach to rare diseases has led to the development of
appropriate public health policies. Important gains continue to be made
with the increase of international cooperation in the field of clinical
and scientific research as well as the sharing of scientific knowledge
about all rare diseases, not only the most "recurrent" ones. Both of
these advances have led to the development of new diagnostic and
therapeutic procedures.
However, the road ahead is long with much progress to be made.
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