Are you or a loved one living with a rare disease? If so, you may find it difficult discussing your condition and treatment options with friends and family members, who may not be aware that your condition even exists. Worse still, what if your doctor or healthcare practitioner had no clue what was wrong with you – much less knew how to treat you?
According to the Children’s Rare Disease Network, some 1 in 10 Americans may be living with a rare disease, and many of them may not know it. Even more worryingly, in some cases, even leading doctors may not know how to deal with particularly rare or newly discovered diseases, beyond managing symptoms.
To help address this issue, the last day of February has been designated as World “Rare Disease Day”, to call attention to the public health issues associated with rare diseases. The Children’s Rare Disease Network has compiled some facts and figures about rare diseases, which they’d like to share with you here:
– Approximately 7,000 rare disorders are known to exist. Many new ones are discovered each year.
– Rare diseases affect between 25-30 million people in the United States, and approximately 30 million people in the European Union.
– One in 10 Americans is living with a rare disease.
– Children represent the vast majority of those afflicted with rare disease.
– Approximately 80 percent of rare diseases are not acquired; they are inherited. They are caused by mutations or defects in genes.
– In the United States, rare diseases are defined as those affecting 200,000 or fewer people or about 1 per 1,000.
– Rare disease is often referred to as an “orphan” disease.
One grave concern among the medical community is that orphan or rare diseases are often not pursued by the pharmaceutical industry, because they provide little financial incentive for the private sector to make and market new medications to treat or prevent them. To further complicate matters, there are often not enough patients to make research cost-effective or to provide large enough control groups to take part in clinical and medical research.
Aside from the distress this causes sufferers, these related problems may even be crippling research into common diseases, for research on rare diseases can often lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes, stroke and other major health problems.
As a whole, rare diseases represent a large medical challenge. Combine this with the lack of financial incentives to treat or cure rare diseases, and a serious public health issue is created.
But there is a light on the horizon. The US Orphan Drug Act (ODA) of 1983 has been one of the most successful pieces of health related legislation ever enacted in the United States. Through a system of tax credits, government grants, assistance for clinical research, as well as seven years marketing exclusivity, the Orphan Drug Act has resulted in hundreds of approved orphan medicines, treating over millions of patients worldwide. Similar legislation has been adopted in Japan, Australia and the UK.
If you have other facts and figures not on our list, please send them to us by visiting www.crdnetwork.org. We are particularly interested in international facts on rare disease that do not seem to be available.
The following are a few examples of rare diseases that afflict children – if you have or know someone who has any of the following rare diseases, please encourage them to visit our website to share info with us:
Acute Lymphocytic Leukemia, Angelman Syndrome, Apert Syndrome, Aase-Smith Syndrome, Batten Disease, Carpenter Syndrome, Coarctation of the Aorta, Chronic Myelogenous Leukemia (CML), Crouzon Syndrome, Cystic Fibrosis, Duchenne Muscular Dystrophy, Ewing’s Sarcoma, Eisenmenger Syndrome, Fabry Disease, Fragile X, Epidermolysis Bullosa, Gastroschisis, Gaucher Disease, Hirschsprung’s Disease, Hurler Syndrome, Krabbe Disease, Legg-Calve-Perthes Disease, Marfan’s Disease, Microcephaly, Niemann Pick Disease, Neuroblastoma, Neurofibromatosis, Patent Ductus Arteriosus, Pompe Disease, Prune Belly (Eagle-Barrett) Syndrome, Sanfilippo Syndrome, Spina Bifida, Sickle Cell Anemia, Tay-Sachs, Tetralogy of Fallot, Tourette’s syndrome.
Following are a few examples of rare diseases that afflict children:
Acute Lymphocytic Leukemia, Angelman Syndrome, Apert Syndrome, Aase-Smith Syndrome, Batten Disease, Carpenter Syndrome, Coarctation of the Aorta, Chronic Myelogenous Leukemia (CML), Crouzon Syndrome, Cystic Fibrosis, Duchenne Muscular Dystrophy, Ewing’s Sarcoma, Eisenmenger Syndrome, Fabry Disease, Fragile X, Epidermolysis Bullosa, Gastroschisis, Gaucher Disease, Hirschsprung’s Disease, Hurler Syndrome, Krabbe Disease, Legg-Calve-Perthes Disease, Marfan’s Disease, Microcephaly, Niemann Pick Disease, Neuroblastoma, Neurofibromatosis, Patent Ductus Arteriosus, Pompe Disease, Prune Belly (Eagle-Barrett) Syndrome, Sanfilippo Syndrome, Spina Bifida, Sickle Cell Anemia, Tay-Sachs, Tetralogy of Fallot, Tourette’s syndrome and Williams Syndrome.
– Chris Hempel
RARE Blog Contributor
For more info on rare diseases and to read the full blog, visit www.crdnetwork.org
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