Quick facts on rare disease

accreditation
Shutterstock
What is a rare disease?
The U.S. Food and Drug Administration define a rare disease as one that affects fewer than 200,000 Americans at any given time.
The European Commission on Public Health defines rare diseases as life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
Because of definitions that include reference to treatment availability, a lack of resources, and severity of the disease, some people prefer the term orphan disease and use it as a synonym for rare disease.

So are Rare Diseases really Rare?
According to the National Institutes of Health, there are between 6,000 and 7,000 rare diseases affecting from 25 to 30 million Americans. The Global Genes Project estimates there are some 350 million people worldwide currently affected with a rare disease and as much as 6% to 8% of a population can be affected by one.

Why is the issue of Rare Diseases so low on the health agenda?

Is the life of a man, woman or child who has a rare disease “Less valuable” than those who have other, equally devastating, but perhaps more treatable diseases. What research is being done, what treatments are available and why are available treatments so expensive? Is our Government attending to the needs of those with Rare Diseases and will our envisaged NHS be equipped to diagnose and treat people who have a rare disease? What are the everyday difficulties that people who have a rare disease, or parents of children with rare diseases have to face? Is there support?

What is the Orphan Drug Act?
It is an American legislation provides incentives for companies to develop treatments for rare diseases.

Has this legislation been successful?
Yes. During the decade before 1983, only 10 new treatments were developed by industry for rare diseases. Since 1983, more than 2,200 products have entered the research pipeline and more than 360 have been approved.

How can people help a family member with a rare disease get the best possible treatment?
In South Africa, you can contact the Rare Disease Society – also known as the Gaucher’s Society. The contact person is Kelly du Plessis whose little boy Juan also has a rare disease.  Call Kelly on 0726236763 or go to www.rarediseases.co.za or www.gaucherssa.co.za

The Rare Disease Society can refer you to a specialist and can be tremendously helpful in many everyday ways, and they are also a wonderful way to network with other people who have the same disease.

One of the unique characteristics of the rare disease community is the close and supportive relationship that exists between medical experts and the patient community. It’s usually best, with rare diseases, to be treated by a specialist likely to have experience with rare diseases and in South Africa, like many other countries, there are only a few doctors, and only a few medical centres, with expertise on this particular disease.

Picture: Doctor and patient from Shutterstock

We live in a world where facts and fiction get blurred
In times of uncertainty you need journalism you can trust. For 14 free days, you can have access to a world of in-depth analyses, investigative journalism, top opinions and a range of features. Journalism strengthens democracy. Invest in the future today. Thereafter you will be billed R75 per month. You can cancel anytime and if you cancel within 14 days you won't be billed. 
Subscribe to News24
Voting Booth
The ANC's leadership race is heating up. Who do you think will be elected party president at Nasrec in December?
Please select an option Oops! Something went wrong, please try again later.
Results
Nkosazana Dlamini-Zuma has got it in the bag
6% - 327 votes
I foresee a second term for Cyril Ramaphosa
82% - 4186 votes
Don’t discount a Zweli Mkhize win
12% - 603 votes
Vote
Rand - Dollar
18.09
-0.8%
Rand - Pound
20.21
-0.2%
Rand - Euro
17.74
-0.1%
Rand - Aus dollar
11.59
-0.3%
Rand - Yen
0.13
-0.1%
Gold
1,660.90
0.0%
Silver
19.03
0.0%
Palladium
2,166.50
0.0%
Platinum
864.50
0.0%
Brent Crude
85.14
-2.4%
Top 40
57,390
+0.8%
All Share
63,726
+0.7%
Resource 10
60,230
+0.7%
Industrial 25
77,400
+0.8%
Financial 15
13,796
+0.7%
All JSE data delayed by at least 15 minutes Iress logo
Editorial feedback and complaints

Contact the public editor with feedback for our journalists, complaints, queries or suggestions about articles on News24.

LEARN MORE